Newborn Screening Manual

Newborn
Screening
Manual

A GUIDE FOR NEWBORN CARE PROVIDERS EDITION: 1

2015

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 Newborn Screening Manual

Newborn Screening Manual:

A Guide for Newborn Care Providers

This manual was created by Kuwait National Newborn Screening Committee

(KNNSC) as a comprehensive guide for newborn screening offices (NSO) and
other health care providers to ensure that all infants born in Kuwait have a high
quality newborn screen completed. This manual outlines recommended practices in
newborn screening, along with common problems encountered in practical
settings.

This manual is available free of charge to governmental and private hospitals that
submit newborn screening samples to NSO. Revised or additional pages of the
manual will be distributed periodically to ensure that the information contained is
consistent with current practices.

If you have any questions about the information contained in this manual, or would
like to order additional copies for your hospital, please e-mail
neonateq8@gmail.com .

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Table of contents
Background Introduction
information Newborn screening history
Newborn screening system
Newborn screening timeline
Limitation of newborn screening
Scope on parts of screening program
Role of the screening team
Specimen collection Definition
Ensuring that the screen performed
Parental right for refusal
Time for specimens collection
Special consideration in sample collection
Recommendation for neonate in ICU
Specimens handling after collection
Transportation guidline for DBS
Unsatisfactory Identification of unsatisfactory specimens
specimens
Causes of unsatisfactory specimens
Privacy and Privacy and confidentiality health information
confidentiality
Storage of the dried blood spot samples
Use of dried blood spot samples
Destruction of the dried blood spot sample
Specific Overview of NSO process
information
Screening methodology
Factor causing of false positive and false negative
Special consideration that affect results of screen
Outline of 22 disorders included in the panel

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Table of contents

Appendices Filter paper for dried –blood Algorithm for Decreased

spot specimens APP1 APP20
BIOTINIDASE
Referral form for early
discharged babies APP2 Algorithm for elevated C3

NBS report form for Tandem

MS/MS APP3 Algorithm for elevated C5DC

NBS report form for DELFIA Algorithm for elevated 17OH

APP4
progesterone
Transportation checklist APP5 Algorithm for elevated TSH
Laboratory refusal form APP6 Algorithm for Decreased GALT
Low birth weight and sick
newborns guidline APP7 Algorithm for elevated C16OH

Newborns admitted to NICU APP8 Algorithm for elevated C8

Newborn screening flowchart APP9 Algorithm for elevated C14:1
Newborn screening order form
(KMGC) APP10 Algorithm for elevated C5

Newborn screening order form

(each hospital) APP11 Algorithm for elevated C5OH

List of disorders in the Algorithm for elevated

newborn screening APP12
CITRULLINE
Newborn screening card Algorithm for elevated
replacement form APP13
METHIONINE
Parental refusal for newborn
screening APP14 Algorithm for MSUD

Newborn Screening sample Algorithm for elevated

collection procedure APP15
PHENYLALANINE
Diagram of invalid specimens Algorithm for elevated
APP16
TYROSINE
Diseases screened by Kuwait NBSResults and
symptoms APP17 APP21
Confirmatory Testing
Disease summary APP18
Brochure APP19

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Introduction :
Newborn screening is a public health system made up of
many different yet integral parts: screening, diagnosis,
management, evaluation and education.
The idea was born 1979 when Kuwait Medical Genetic
Center constructed. Kuwait National Newborn Screening
Program was based on screen two diseases in the
governmental hospital of Kuwait (MOH). KNNSC
coordinated the modernization of Kuwait newborn
screening system over the last few years, both in the
logistical aspects of how the program is run and in the
ability to screen for an increasing number of diseases.
To ensure that the newborn screening system runs
smoothly, Newborn Screening Offices (NSO) is
responsible for communicating with a multitude of
newborn screening stakeholders including the families of
infants screened, Newborn Screening labs, neonatal
departments and the Ministry of Health.
Expanded newborn screening began in October 2014,
making Kuwait one of the most comprehensive newborn
screening programs in Middle East.
The primary goal of newborn screening is the early
identification of affected infants in time to prevent
serious health problems. To do so, every infant must be
offered screening. Realizing this goal involves the
combined efforts of health care providers across the state.
The purpose of this guide is to ensure that all infants born
in Kuwait have the opportunity to have a high quality
newborn screen completed.
This manual outlines:
• recommended practices in newborn screening
• common problems with screening practices
• general information about NSO
• diseases currently included in the newborn screening
panel.
While all of the diseases tested for are rare and not
usually apparent at birth, a collectively large number of
affected infants in Kuwait will be found to have these
conditions every year but with low incidence. NSO can
help these children to have the best start in life through
timely newborn screening, early diagnosis and treatment.
The cost of missing one of these conditions is immense,
both in human suffering and in financial terms. Untreated
infants can develop mental retardation, serious health
problems, or even die, sometimes without a diagnosis
being made.
Ensuring that every infant born in Kuwait is screened
and that every affected infant receives appropriate
treatment and follow-up requires the coordinated efforts
of three main groups of Health care providers (HCPs):
• NSO in hospitals :
They are responsible for the prompt follow up in the event
of positive screen, unsatisfactory sample or a screen is
missed. The NSO will release statistics with the confirmed
cases and false positive screening results. They responsible
for parent education about newborn screening, specimen
collection, providing accurate and complete information for
every screened infant, and for prompt follow-up in the event
a sample is unsatisfactory or a screen is missed.
• Newborn Screening Laboratories at KMGC :
NSL is responsible for testing, record keeping, quality
assurance of testing, communication with NSOs about
unsatisfactory or missed samples, referring screen positive
infants to NSO in hospitals, obtaining follow-up
information on screen positive infants, and providing
education about newborn screening to parents, health care
providers, and the general public.
• Metabolic and Endocrine clinics:
Every screen positive infant is referred to metabolic
specialist clinic . The metabolic specialist is responsible for
ensuring confirmatory testing of screen positive infants,
management of confirmed cases, providing NSO with
follow-up information, and for education of local health
care providers.
Newborn Screening History in Kuwait
1965 – Screening for Phenylketonuria (PKU) as a pilot
study
1978 – Screening for congenital hypothyroidism (CH) as a
pilot study
2005 – Screening of PKU and CH start in Kuwait medical
genetic center after receiving DELFIA system
2007 – Screening of PKU, CH, 17OH progesterone,
Galactosemia and biotindase start in Kuwait medical
genetic center after receiving DELFIA system
2014 – Screening of 22 diseases in Kuwait started after
receiving Tandem mass spectrometry system.
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Kuwait Newborn Screening system

In addition, the Newborn Screening Committee includes most

expert professionals in newborn screening to establish the
policies of newborn screening program, for any information,
contact neonateq8@gmail.com

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NSO contact information

Dr. Mona Al-khawari Up to date protocol:

Kuwait National Newborn Screening –Chair Kuwait National Newborn Screening Committee will
add any new update of forms in the website .
Phone: 97290055
If you would like to be informed with any new update,
Fax: 22436149
please send an email with your name, institution, fax
E-mail: malhawari@gmail.com
and phone number to:
Dr. Laila A.Bastaki neonateq8@gmail.com
Kuwait Medical Genetic Center –Director
Phone: 99641572
Fax: 24814328
E-mail: lailabastaki16@yahoo.com 10 important points to remember about
Newborn screening laboratories at Kuwait newborn screening
Medical Genetic Center 1. Please use the term “Newborn Screen.” The term
Phone: 24814328 “Genetic test” is confusing to parents.
Fax: 24823242
e-mail:neonateq8@gmail.com 2. The incidence of all the newborn screening diseases
Our lab hours are Sunday to Thursday 8:00am-16:00pm very low and few cases are discovered per year
Holidays 8:00 – 01:00
3. Screen every infant. Newborn screening detects rare
NSO at Farwanyia Hospital diseases that are not apparent at birth. Most affected
Phone: 24888000 - ext.: 6319 infants do not have a family history of the disease;
Fax: 24805072 therefore every infant is at risk.
e-mail:farwanyia.neonateq8@gmail.com
Office hours are Sunday to Thursday 8:00am-13:00pm 4. Screen every infant prior to discharge from
hospital.
Infants discharged prior to 24 hrs of age should have
NSO at Al adan Hospital a sample taken prior to discharge. Inform parents of
Phone: 23941628 the need and process for a repeat screen prior to five
Fax: 23966826 days of age. If an infant is transferred to another
email:adan.neonateq8@gmail.com hospital, ensure there is communication between
Office hours are Sunday to Thursday 8:00am-13:00pm hospitals regarding the responsibility for obtaining the
newborn screen.
NSO at Al jahra Hospital 5. Goal of Newborn Screening:
Phone: 24569418 Diagnose and treat in early life.
Fax: 24577213 If undetected and untreated these disorders may cause
e-mail:aljahra.neonateq8@gmail.com mental retardation, serious health problems, or even
Office hours are Sunday to Thursday 8:00am-13:00pm death. Early detection and treatment can greatly
improve the outcome for these babies and sometimes
NSO at Maternity Hospital even save their life.
Phone: 24843100 ext. 7206 For example, infants with PKU and congenital
24842100 ext. 7206 hypothyroidism irretrievably lose significant cognitive
Fax: function if phenylalanine and thyroid stimulating
e-mail:maternity.neonateq8@gmail.com hormone (TSH) are not under control by three weeks of
Office hours are Sunday to Thursday 8:00am-13:00pm age.

Al- Sabah Hospital laboratories

Phone: 24815000 ext. 3432- Dr.Rao(mob.99535228) / 3716-Dr.Jassim Abbas (mob . 66661580)
3713 – Dr.Ayman Salloum (mob. 66057790)
Fax: 24840319
e-mail:sabahnbs@gmail.com
Office hours are Sunday to Thursday 8:00am-13:00pm

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6. A) A positive screen does not mean a baby is
affected with a disease:
• confirmatory tests must be done to confirm or rule out a
disease
B) A negative screen does not rule out a disease:
• Any infant symptomatic of a disease should have
the appropriate diagnostic evaluation immediately.
7. Newborn screening is standard of care and is
strongly recommended for all infants, but is
not mandatory.
Ensure that you have thoroughly explained newborn
screening to all parents. If parents do not consent to
testing, it is extremely important to document the refusal
in the infant’s records.
8. Unsatisfactory samples require a repeat sample
immediately.
The NSO that took the initial sample is responsible for
ensuring the repeat sample is done, even if the infant has
been discharged. Delays in obtaining a repeat sample can
lead to delayed diagnosis and serious health problems in
affected infants.
9. Ensure that the newborn screening cards are
filled out completely and accurately.
All requested information is essential for accurate
interpretation and follow-up of results. Incorrect or
missing information can lead to false positive results and
unnecessary testing for healthy infants.
10. For any additional information contact
Neonateq8@gmail.com
Newborn screening timeline
Before birth
As a provider of antenatal or newborn care, you should
discuss newborn screening with your patient. Information
about newborn screening should also be discussed with
prospective parents in their prenatal education classes. To
assist with parent education, pamphlets about newborn
screening are available in many different languages
(Arabic/English) and can be found in the NS offices in
hospitals .
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After delivery
A newborn screening blood spot collection card should
be completed between one day (24 hours) and seven
days after the birth of the infant, ideally, between two
days (48 hours) and three days (72 hours) after birth. If
tested before 24 hours of age, the test should be
repeated within 5 days (eg. at the first postnatal
checkup). Blood spots from infants are collected using
the heel-prick method, which is detailed on the back of
the specimen card. The parent should be given the
education, pamphlets to orient with the program.
Newborn Screening offices in hospitals will fill out
demographic information about the infant and the
infant’s mother on the blood spot collection card. This
information allows newborn screening laboratory to
correctly interpret the infant’s results, and, in the event
that the infant screens positive for a disease, it will
allow the NSO coordinating follow-up to contact the
parent quickly to retrieve the infant.
It is important that you emphasize to parents that
newborn screening is part of their infant’s routine care
and could save their infant’s life and/or prevent serious
health problems. The vast majority of parents agree to
have their infant screened. Parents may choose to
decline newborn screening for their infant. You should
discuss this decision with them, and you should
document this decision in the infant’s medical record.
NSOs will ask parents to sign a form indicating that
they have refused newborn screening for their infant.
It is critical that newborn screening laboratories
The newborn
receive screening
the newborn screening (NS) sample
specimen card as
soon as possible after the blood spots are collected.
Therefore, the cards should be sent no later than 24
hours after collection and, ideally, as soon as the
blood spots are dry (2-3 hours after collection).
Infants with some of the diseases screened will start
to become ill and may suffer irreversible damage
soon after birth.
DO NOT BATCH SAMPLES FOR
TRANSPORTATION.
 Newborn Screening Manual

When the sample is received, the blood spot is tested and

the demographic information from the newborn screening
card is entered into a database. This database links the
infant’s information with the results of the screening tests,
and also serves as a way to store the infant’s newborn
screening result.
The results of the screening tests are reviewed by a
biochemistry consultant to determine if the infant has a
lower risk of having a disease (“screen negative”) or a
higher risk of having a disease (“screen positive”).
Newborn screening results
Screen negative results (low risk)
Screening limitations
As with all screening tests, false positive and false
negative results occur in newborn screening. False
positives may increase parental anxiety, while false
negatives will give a misleading sense of
reassurance. If an infant in your care displays
symptoms of a particular disease, the child should
be investigated and managed appropriately
regardless of the results of the newborn screen. The
relevant specialist should be contacted immediately
for further advice.

If the infant is “screen negative”, he or she has a low risk There is wide variation in the clinical presentation
of having any the diseases included on the screening of the diseases that the newborn screen detects.
panel. In this case, a report is mailed to the hospital or Therefore, some affected individuals – infants who
health care provider that submitted the infant’s sample. have had diagnostic testing indicating that they
have a particular disease– will remain
Unsatisfactory sample asymptomatic or have very mild symptoms, even
without treatment.
If the infant’s sample is unsatisfactory (for example, if it
was taken too early, or if there was not enough blood to
do the testing), newborn screening laboratories will
contact the hospital that sent in the sample and ask them
for a new sample. The NSO who submitted the sample
should send another if the baby still present in the
neonatal department but if discharged they will need to
call the parent to tell them that the infant’s test needs to be
repeated and make arrangements for another sample to be
taken as soon as possible.

Screen positive results (increased risk)

If the infant is screen positive, this does NOT mean that

the infant has a disease; however, it does mean that the
infant has an increased chance to have a disease. An NSO
physician will refer the infant to metabolic specialist for
follow-up diagnostic testing to determine if the infant
truly has the disease. In some cases, NSO staff work
directly with families to arrange testing.
The metabolic specialist will provide the referring
physician at NSO with follow-up information about the
infant, as is the case for any medical referral. This
includes medical information, which tests were done, the
results of those tests, and whether or not the infant truly
has the disease.
This feedback allows NSO to make sure that screen
positive infants receive appropriate and timely care.
So ,can do monthly statistic of newborn screening
program.

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List of disorders included in the Newborn Screening

panel

Test
Amino Acidemias :
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Homocystinuria (Cystathionine synthase def.)
Citrullinemia (ASA synthase deficiency )
Tyrosinemia (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methylmalonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase Deficiency (LCHAD)
Trifunctional Protein Deficiency (TFP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency (3HMG)
Galactosemia
Biotinidase Deficiency
Endocrine Disorders :
Congenital Hypothyrodism
Congenital Adrenal Hyperplasia

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Scope: g. Working hours for Clinical Biochemistry doctors:"

Will follow MOH regulation"
1. Kuwait Medical Genetics Center (KMGC) is 4. Data registry:
the place for processing the collected filter papers a. Site; KMGC
from all newborn babies in Kuwait b. In-charge personnel;
i. NBS Coordinator
2. Newborn Screening Office (NSO): ii. Data entry personnel
a. Located in hospitals with maternity services iii.MOH Informatics Directorate
(Farwanyia, Adan, Al-Jahra, and Sabah Maternity c. Method; Newborn Screening Software
hospitals).
b. Manned with one neonatologist ,one nurse , Equipment:
phlebotomist and data entry personnel per shift. 1. Tandem mass spectrometry
c. Working hours: 2. Fluoroimmunoassay analyzer (DELFIA system)
i. Working days :Open from 7:00-14:00 hours 3. Hardware and Software for data registry
ii. Saturdays and public holidays: Open from 4. Newborn screening website
8:00-13:00 hours 5. Consumables
(a) Blood spot punctures
3. Newborn screening unit (NSU)in Kuwait (b) Filter papers for dried–blood spot specimens
Medical Genetics Centre: (c) CD rack, paper envelope (A5)
a. Senior Clinical Biochemistry doctors (d) Referral form for early discharged babies
b. Two Clinical Biochemistry registrars (e) Transport checklist
c. Medical laboratory technologists (f) NBS resources order form
d. Two NBS coordinators (g) Parental refusal for newborn screening
e. Administrative staff (h) Newborn screening card replacement form
f. Working hours Medical laboratory technologists: (i) Brochures
i. Working days :Open from 7:00-19:00 hours (j) Posters: collecting samples, valid samples, newborn
ii. Saturdays and public holidays: Open from screening flowchart.
8:00-13:00 hours

References :
1. Clinical Laboratory and Standards Institute. Blood collection on filter paper for newborn screening programs; Approved standard–Fifth
edition. CLSI document LA4-A6. Wayne, PA: Clinical and Laboratory Standards Institute; 2012. "
2. De Jesús VR, Mei JV, Bell CJ, Hannon WH. Improving and assuring newborn screening laboratory quality worldwide: 30-year
experience at the Centers for Disease Control and Prevention. Seminars in Perinatalology 2010; 34:125–33. "
3. Federal Register. 39 CFR part 111 New Mailing Standards for Division 6.2 Infectious Substances. 2006; Section 10.17.9(b). Available
at: www.gpo.gov/fdsys/pkg/FR"
4. Federal Register. 49 CFR part 173 Shippers General Requirements for Shipments and packaging. 2010; Section 173.134(b). Available
at: http://ecfr.gpoaccess.gov/cgi"
5. World Health Organization. Guidance on regulations for the transport of infectious substances 2011 2012 .Geneva: WHO /HSE/IHR/
2010.8.Available at: http:// www.biosafety.moh.gov.sg/home/uploadedFiles/Common/
WHO_Guidance_on_regulations_for_transport_of_Infectious_Substances."
6. Centers for Disease Control and Prevention. Guide to infection prevention for Outpatient settings: minimum expectations for safe care.
Available at:" http://www.cdc.gov/HAI/settings/outpatient/outpatient-care-gl-standared-precautions"
7. Michigan Department of Community Health,Newborn screening guideline,October 2013"
8.newborn screening manual guideline of ontario

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Newborn Screening office:
A newborn Screening office is located in each of the 4
governmental hospitals and is concerned with newborn
screening activities in the draining areas covered by
these hospitals. Staff working in each office include:
• Newborn Screening Coordinator
• Nursing staff
• Phlebotomist
Role of the Newborn Screening Coordinator:
(Responsible doctor at Newborn Screening office)"
The hospital NBS coordinator plays a crucial role in
assuring that the NBS process is both effective and
efficient. "
The coordinator fulfils this role by arranging, assisting
and following up of different steps of screening process
assuring proper interaction between nursing, and NSO
staff and assisting NSO staff in resolving problems."
The responsibilities of the NBS coordinator are:"
1. Clinical assessment of cases of positive screen results"
2. Initiating confirmatory testing for positive screen"
3. Referral of confirmed cases to specialist"
4. Reporting of confirmed cases and monthly statistics of
Newborn Screening (NBS) to Kuwait Medical Genetics
Center."
5. Serving as a contact person and facilitator between the
NBS program and hospital staff involved in the NBS
process "
6. Assuring that there is an adequate supply of NBS
brochures and a mechanism for distribution to all
mothers."
7. Working with obstetric department staff member to
incorporate NBS educational information is existing and
future prenatal classes offered to parents."
8. Performing quality assurance activities:"
a. Assuring that there is a NBS policy in place describing
the hospital’s NBS
procedures. "
b. Assuring that a log is maintained to track NBS
specimens, transport personnel, and receipt of screening
results."
c. Assuring adequate inventory of NBS cards."
d. Providing guidance/information to nurses and
laboratory staff on the importance of accurately filling
out all demographic fields on the NBS card."
e. AssistingSpecimen collection
NSO staff in resolving problems of missing/
incorrect demographic information on the NBS card and
in obtaining retests when specimens were unsatisfactory
for testing."
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f. Assuring that hospital NBS policies and
procedures include a protocol for notifying the NBS
program if parents refuse NBS testing or if a
newborn death occurs after a specimen was sent to
the NBS laboratory."
9. Perform educational activities"
a. Informing and educating hospital staff about new
program guidelines and protocol changes e.g. new
disorders added to test panel, changes in specimen
collection requirements, and other NBS information,
as necessary."
b. Educating parents about importance of newborn
screening and explanation of screening results."
Role of the Newborn Screening Office Nurses :
1. Gathering of Newborn Screening Samples from
labour room, postnatal wards, NICU, SCU and
Newborn Screening Office"
2. Assuring validity of samples for testing before
delivery of samples to transportation personnel
3. Collecting samples in the specified envelope."
4. Delivery of samples to newborn screening
transportation personnel with registration in
registration book of data of each sample and total
no.of valid samples delivered with date and time."
5. Recall of positive screen
Role of the Newborn Screening Office
phlebotomy personnel :
Collecting newborn Screening samples according to
standard protocol of sample collection
Role of the Newborn Screening Office Data entry
personnel :
1. Registration of Newborn screening data in
registration book and electronically."
2. Monthly statistics of NBS cases."recall of positive
screen."
 Newborn Screening Manual
Definition
NSO, as a submitter, are integral to the newborn
screening process and responsible for parent education,
specimen collection, and following up on unsatisfactory
samples and missed newborn screens. In following the
recommended newborn screening practices.
Sample collection at Postnatal wards, NICU, SCU and
Labor rooms:
1. Kuwait Medical Genetics Centre will supply the NSO
in different hospitals in the state of Kuwait with the filter
papers and brochures, ect."
2. Inventory of supply is the responsibility of NBS
coordinator through the Head of the neonate departments
using the NBS resources order form.
3. It is the responsibility of the nurse in-charge of the
baby at the postnatal wards, NICU, SCU and labor room
to collect the blood sample following the instructions on
back of the filter paper .
4. The ideal sample should be collected between (48-72
hour) of age; 24 hours at a minimum. "
5. If the baby discharged home before 24 hour of age,
the first sample should be collected before discharge and
a clear instructions has to be given to the parents by the
neonatologist regarding the importance of repeating the
test up to one week and provide them with a referral
form to the Newborn Screening office to collect another
sample of filter paper.
6. The nurse in-charge should write the baby’s data on
the filter paper including the contact numbers of the
parents (It has to be 2 contact telephone numbers one of
them should be a land line)
7. The nurse in-charge of the baby in any location should
register the baby’s data including the barcode of the
filter paper in the screening registry book, as well as in
the nursing notes of the baby’s/ mother’s medical record,
which should be available in any location for collecting
samples."
8. The nurse in-charge of the baby in any location should
allow the collected filter papers to dry in the assigned
racks for a minimum 3 hours. "
9. The in-charge nurse at the Newborn Screening Office
should collect the samples from postnatal ward; NICU,
SCU and Labor room and communicate with the
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in-charge nurse in the ward regarding improper
sampling. "
10.The in-charge nurse at the Newborn Screening Office
should store the samples in the office at room
temperature."
11. The coordinator at the Newborn Screening Office
has to guarantee safe transport of the filter papers to the
newborn screening unit at KMGC.
Ensuring that the screening test is
performed?
Test is performed for all infants born in Kuwait
hospitals, ensuring the test has been offered/ performed
should be part of the pre-discharge check list. For
infants born at home ensuring that the test has been
offered / performed should be part of the first or second
postpartum visit.
If an infant is being transferred between hospitals, when
possible, the newborn screen should be performed prior
to the transfer and clearly documented in the discharge
summary. If the newborn screen was not performed
prior to transfer, the plan for the newborn screen should
be part of the discharge summary. Clear communication
between the two hospitals involved is essential to ensure
the newborn screen is offered/ performed
Information for parents
It is important that antenatal and prenatal educators
discuss newborn screening with prospective parents.
Pamphlets in multiple languages are available through
the NSO.
Parental right of refusal
Newborn screening is not currently mandated by law,
however, it is considered standard of care. The vast
majority of parents agree to have their infant screened.
As with many standard medical practices, there is no
formal province-wide mechanism to document consent.
However ,members of KNNSC have taken many steps
to provide education to ensure information is available
to parents to make informed decisions for their infants.
It is important that parents are made aware that newborn
screening could save their infant’s life and/or prevent
serious health problems. Parents may decline screening,
and NSO should discuss this decision with them to
ensure they are making an informed decision. Hospitals
should document this decision in the infant’s medical
record and/or have the parents sign a form indicating
they have refused this testing for their infant.
 Newborn Screening Manual
Completing the Newborn Screening Card:
It is extremely important to fill out the NBS card
completely and accurately. The specimen submitter is
legally responsible for the accuracy and completeness of
the information on the NBS card. The card will be
scanned into the NBS database so legibility is critical.
Press firmly using a black or blue pen and record the
following information in the spaces provided:"
Infant information:
• INFANT'S NAME: Record the mother in capital letters.
You should put before mother name” baby of …” . In
multiple parity state the baby as twin I,II, ect."
• GENDER: Completely shade in the appropriate oval to
designate newborn's gender as male or female or
unknown."
• BIRTH DATE: Use a six-digit number (dd / mm /yy) for
date of birth. For example, a birth on 4th of January 2012
would be recorded as 040112."
• BIRTH TIME: Record time of birth. For example, a
birth at 4:30 p.m. "
• BIRTH WEIGHT in GRAMS: Record the exact birth
weight in grams (1520 gram) in the boxes provided. Do
not use pounds and ounces. "
• CURRENT WEIGHT in GRAMS for 2nd and 3rd
samples: Record the current weight in grams in the boxes
provided do not use pounds and ounces. "
• GESTATIONAL WEEKS: Record weeks of gestation at
time of birth. "
• MULTIPLE BIRTH ORDER: Completely record birth
order by "I”, “II”,“III" for twins, triplets, etc."
• SPECIMEN DATE: Use a six-digit number (dd/mm/ yy)
representing the date on which the specimen was
obtained."
• COLLECTION TIME: Record time of specimen
collection."
• COLLECTED BY: Record initials or employee hospital
identification number of person collecting the specimen."
• MEDICAL RECORD NUMBER BABY: Record the
birth/mother hospital's identification or medical record
number."
• NATIONALITY: Record Nationality of Newborn."
• RBC TRANSFUSION: Record if the newborn was ever
transfused with red blood cells prior to specimen
collection. If yes,record the date (dd / mm /yy) and the
time of the most recent transfusion. "
• ANY TPN FEEDING: Completely shade in oval “yes”
if the newborn is receiving total parenteral nutrition
(TPN) at the time the specimen is obtained -OR- received
TPN within 24 hrs of specimen collection."
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Received TPN within 24 hrs of specimen collection."
• OTHER FEEDING: Check all that apply. For
instance, if a mother is both breast and bottle feeding,
mark both and indicate the type of formula."
• ANTIBIOTICS: "
o For the 24-36 hour specimen; "
▪ State in the box “special things” if the
newborn is currently receiving antibiotics or the
mother was receiving ongoing antibiotics at the time
of birth. "
• TYPE OF COLLECTION: The preferred collection
method is by heel prick with a single drop of blood
applied directly to each circle on the filter paper.
Check both “heel” and “capillary” if the blood was
collected from the heel using a capillary tube. Note
that the use of a capillary tube can result in layered,
serum, clotted and damaged specimens. If the heel was
not used, indicate the alternate collection method."
Mother information:
• MOTHER'S NAME: Record last name followed by
first name. If the newborn is going to be released at
birth to adoptive or foster parents, provide contact
information of adoptive or foster mother."
• MOTHER'S ADDRESS: Record mother's current
address.Information about the mother is needed to
locate newborns in need of clinical evaluation or
retesting."
• MOTHER'S PHONE: Record mother's mobile and
home telephone number."
• MEDICAL RECORD NUMBER-MOTHER: Record
the hospital identification or• medical record number
•BIOHAZARD CONDITIONS: Record in the special
things box if the mother is having HEPATITIS, AIDS
OR OTHER INFECTIOUS DISORDER to deal with
the sample according to the approved standard
protocol"
• BIRTH HOSPITAL: Record name of the birth
hospital here only if different from the submitter."
Note: It is extremely important to fill out the screening
card completely and accurately"
 Newborn Screening Manual

Timing of specimen collection

Premature (less than 33.0 weeks gestational age)
Full term infants
or low birth weight (less than 1800g) babies
should have:
A newborn screening sample should be collected
between one day (24 hours) and seven days after the
1. A first Newborn Screening specimen collected
birth of the infant. The ideal time to obtain the newborn
between 24 and 72 hours of age.
screen is between two days (48 hours) and three days (72
hours) after birth.
2. A second specimen collected at 2 weeks of age or
when the baby is being discharged home from the
hospital, which ever comes first
Infants discharged early (<24hrs)
.
• If the baby is discharged home prior to 2 weeks of
A newborn screening sample should be taken on every
age from a hospital blood draw prior to discharge.
infant prior to discharge from hospital. If this happens
before 24 hours, parents should be informed that a repeat
• If the baby is discharged home with the second
newborn screen after 24 hours must be done and be
specimen collected before 2 weeks of age
informed how to obtain a repeat screen for their infant.
consideration should be given to having a third
The repeat should be performed within 5 days of the
specimen arranged as an outpatient at 4 weeks of
initial sample.
age.
Not all diseases are reliably detected using blood
3. If the baby is being transferred to another hospital
samples taken before 24 hours of age. Samples obtained
after 2 weeks of age, the hospital receiving the baby
at less than 24 hours of age are considered
should confirm that the second sample was taken
unsatisfactory and a repeat sample will be requested.
prior to transfer. If it was not taken, the receiving
The NSO who submitted the initial sample is responsible
hospital should take the second sample as soon as
for making arrangements for the repeat sample to be
possible after the baby arrives.
obtained.

Premature or low birth weight infants

Premature and/or low birth weight infants who are being

screened should have their gestational age at birth and/or
birth weight clearly indicated on the newborn screening
specimen card.
Premature or low birth weight (LBW) babies may have a
delayed rise in TSH even if they have Congenital
Hypothyroidism (CH). As NS laboratory uses elevation
of TSH as the screening marker for CH, there is an
increased risk of a false negative result (missed case) if
these babies are screened only once in the early neonatal
period. Premature or LBW infants also have a higher
false positive rate for Severe Combined Immune
Deficiency (SCID) screening. It is therefore important
that screening samples are taken as outlined below and in
the flow chart at the appendix .

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 Newborn Screening Manual

The following exceptions to the above policy apply:
1. A specimen should be collected prior to the baby
receiving a packed red blood cell (PRBC) transfusion, even
if this is prior to 24 hours of age.
This will ensure a satisfactory screen for:
• Galactosemia since the test relies on measurement of the
Galactose-1-Phosphate Uridyltransferase enzyme activity
in red blood cells.
If the first sample is taken at less than 24 hours of age, a
second sample should be taken between 24 hours and 7
days of age.
positive screening results for amino acid diseases in
premature / LBW babies. Ideally, a specimen should be
collected at a time when the baby is receiving lower
amounts of TPN.
For example, if the baby is receiving 1.5 g/kg/d of amino
acids at 24 hours of age, it is preferable to take the
screening sample before this amount is increased. Please
note that there is no increased risk of a false negative
result if a sample is taken when the baby is receiving
higher amounts of amino acid solutions; screening should
not be delayed beyond 72 hours of age for this reason.
Premature infants ≥33 WGA and ≥1500g should
NOT be treated differently than term babies.

2. Total Parenteral Nutrition (TPN). Amino acid solutions

administered as part of TPN are a common reason for false

Samples collected from infants greater Total Parental Nutrition (TPN)

than 7 days of age
Samples taken from infants who are greater than 7 days If the infant is on TPN, the TPN circle on the blood spot
of age are analyzed. collection card should be checked. This helps NS
As the levels of many screening markers drop over the laboratory to interpret the infant’s results.
first week of life, these lab results are checked manually
to minimize the risk of missing an affected child (false
negative results). Infants transferred to another hospital
Transfused infants A newborn screening sample should be taken prior to
For the purpose of newborn screening, a transfusion is
discharge from the birth hospital. If transfer occurs <24
defined as receipt of packed red blood cells (PRBC). You
hours or a newborn screening sample was not taken at
may indicate “no” for transfusion status on the newborn
the birth hospital, this information should be included in
screening requisition if an infant has only received fresh
the discharge summary and the receiving hospital should
frozen plasma (FFP) and/or platelets.
collect the newborn screening sample. Clear
If possible, it is best to take the newborn screen prior to a
communication between the two hospitals involved is
blood transfusion. If the sample is not obtained before
essential to ensure the newborn screen is not missed.
transfusion, the health care provider should wait 48-72
hours hours before a first screening specimen is
collected.
Blood transfusions are known to affect the results of Expiration date
screening for galactosemia. Infants who are affected with
one of these disorders may be missed if they have a Check the expiration date of the blood spot collection
transfusion prior to their screen because the donor blood card located in the upper right hand corner of the card
interferes with the screen. next to the image of an hourglass, under the circles for
If an infant has a blood transfusion prior to their newborn the blood. The expiration date is in a year-month format
screen, a repeat sample should be obtained 4 to 6 months (i.e. 2014-05). If the blood spot collection card has
after their most recent transfusion . expired, use another card for specimen collection.
The NSO who submitted the initial sample is responsible
for making arrangements for the repeat sample to be
obtained. All correspondence with parents should be
documented.

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 Newborn Screening Manual
If you only have expired cards, order new cards
immediately. In the meantime, collect newborn
screening samples on the expired cards. NS laboratory
tests all samples received on expired cards ; however,
the sample is considered unsatisfactory and a repeat
sample will be required.
If you identify newborn screening cards as expired,
please remove them from circulation. To avoid wasting
these cards, please return them to KMGC where they
will be used for other purposes, such as educational
initiatives. Please send the expired card(s) to KMGC
via the same transportation system used to send the
newborn screening samples.
All fields on the newborn screening card should be
filled in as completely as possible. A complete
newborn screening report cannot be issued if certain
critical fields are not completed.
Procedure for blood spot specimen
collection
Specimen quality
The primary goal of this standard is to ensure the
quality of blood spots collected from newborns.
Unacceptable and poor quality specimens place a
burden on the screening system, and cause unnecessary
trauma to the infant and anxiety to the infant’s parents.
Poor quality specimens can potentially delay the
detection and treatment of an affected infant, and could
contribute to a missed or late diagnosed case. When NS
laboratory receives an unacceptable specimen, it
requests another specimen from the NSO in hospital .
The turnaround time for analytic results is critical if
treatment to prevent the adverse consequences of the
condition (such as irreversible mental retardation or
death) is to begin on time.
Preliminary steps
Ensure that the expiration date of the blood spot collection
card has not passed.
Complete the required demographic information on the
requisition portion of the blood spot collection card either
manually or electronically. In manual applications a
ballpoint pen should be used; soft-tip pens will not copy
through to the other sheets of paper. Address imprint
devices (or adhesive labels) should never be used unless
the handling process ensures that patient information is not
obscured and the blood collection area is not
compromised. Do not use printers that might compress the
paper.
Collect the required number of uniform blood spots
(currently 5). Failure to collect the appropriate number of
blood spots may result in the sample being unsatisfactory
for analysis due to insufficient blood. It is preferable not to
reapply blood in a partially filled circle as this may result
in layering. Each of the five 11 mm circles on the DBS
card requires approximately 75 ul to 100 uL of blood to
fill.
Avoid touching the area within the circles on the
filter paper section of the blood spot collection
card before, during, and after collection (blood
spots) of the specimen. Do not allow water, feeding
formulas, antiseptic solutions, glove powder, hand
lotion, or other materials to come into contact
with the specimen card before or after use.

Specimen acceptability
The only justification for refusing to analyze a specimen Unacceptable sites for NBS blood
and declaring it unacceptable is that its analysis might collection:
yield unreliable, misleading, values for one or more
analytes. For this reason, such specimens are not • Arch or central area of an infant’s foot.
analyzed, and those responsible for collecting the
original sample are notified immediately so that a new • Fingers of a newborn
sample can be collected as soon as possible. When a
specimen is analyzed, NSO is acknowledging that the • Earlobe
specimen is suitable for testing and is assuming
responsibility for the reliability of the analytic values • A swollen or previously punctured site as
accumulated tissue fluid may contaminate the
Methods of collection : specimen
- Heelstick (method of choice)
- Capillary tube • Uncleared intravenous lines
- Dorsal hand vein
- Umbilical Venous Catheter (UVC)
- Umbilical Arterial Catheter (UAC)

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 Newborn Screening Manual
Precautions
Confirm the identity of the infant and ensure accuracy of
the demographic data on the card.
Wash hands vigorously before proceeding. All appropriate
precautions, including wearing powder-free gloves and
changing gloves between infants, should be employed.
Dispose used lancets in a biohazard container for sharp
objects.
Follow recommendations of infection control
Heelstick ( method of choice)
Site preparation
Warming the newborn’s heel, the skin-puncture site, can
help increase blood flow. A warm, moist towel or
commercial heel warming device at a temperature no
higher than 42oC may be used to cover the site for three
minutes. This technique increases the blood flow
sufficiently and will not burn the skin. In addition,
positioning the infant’s leg lower than the heart will
increase venous pressure.
Caution:
Topical anesthetic creams should not be used as they
may cause vasoconstriction and may also produce
analytic interferences.
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Cleaning the site
The skin in the area of the puncture site should be
disinfected with alcohol (isopropanol/water: 70/30 by
volume, “70%”). Allow the skin to air dry.
Puncture
To obtain sufficient blood flow, puncture the lateral
aspect of the infant’s heel on the plantar surface with a
sterile lancet or with a heel incision device. The incision
device provides excellent blood flow by making a
standardized incision 1.0mm deep by 2.5 mm long. Any
puncture device used should be selected so that the
puncture does not exceed 2.0 mm in depth. For infant
safety, scalpel blades or needles must not be used to
puncture the skin for blood collection. Disposable skin
puncture lancets of different designs are commercially
available for performing the heel stick on infants. For
worker safety, disposable skin puncture devices that
protect the user from unintentional self-inflicted skin
punctures are preferable.
Direct application
After the heel has been punctured, wipe away the first
drop of blood with a sterile gauze pad or cotton ball.
Allow a second large blood drop to form by
intermittently applying gentle pressure as the drop of
blood forms. Touch the filter paper gently against the
large blood drop and, in one step, allow a sufficient
quantity of blood to soak through and completely fill a
preprinted circle on the filter paper. Do not press the
filter paper against the puncture site on the heel. Blood
should be applied only to one side of the filter paper.
Both sides of the filter paper should be examined to
assure that the blood has uniformly penetrated and
saturated the paper to the other side. After blood has
been collected from the heel of the newborn, the foot
should be elevated above the body, and a sterile gauze
pad or cotton swab pressed against the puncture site until
the bleeding stop
 Newborn Screening Manual
In small, premature infants:
the heel bone (calcaneus) might be no more than 2.0
mm beneath the plantar heel skin surface and half this
depth at the posterior curvature of the heel. Studies
indicate that for some infants (including full-term
infants) a puncturing depth beyond 2.0 mm might be
excessive and might cause bone damage. Puncture site
depth should not exceed 2.0 mm.
Milking
Excessive milking or squeezing the puncture site may
cause hemolysis of the blood or result in a mixture of
tissue fluids with the specimen that can adversely affect
the test result.
Layering
Do not apply layers of successive blood drops to the same
printed circle. Applying successive drops of blood to
already partially dried spots causes “layering” and
inaccurate blood volume collection, which results in non-
uniform analyte concentrations and invalidates the
specimens.
Capillary tube method:
Although not the method of choice, specimens can be
obtained by applying blood to the blood spot collection
card, which has been collected in sterile, anticoagulant-
free capillary tubes. The use of anticoagulants should be
avoided during the collection of the newborn screening
sample. As it may cause interference with some
laboratory tests.
Using a fresh sterile, plain capillary tube for each circle
to be filled on the blood spot collection card, collect the
appropriate volume of blood (each of the five 11 mm
Syringe collection of blood for application onto a blood
spot collection card is not recommended because time
delays may allow for clot formation and settling of cells
producing heterogeneous specimens since anticoagulants
are not used.
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circles requires approximately 75-100 uL) required for the
newborn screen.
Touch the tip of the capillary tube to the blood drop
formed at the heel puncture site. Allow blood to flow into
the tube by capillary action. Fill rates might be improved
by holding the tube in a near-horizontal position when
touching to the blood drop. Collect enough blood to fill all
the circles.
After filling the capillary tube, immediately apply the
contents of that tube to the center of a single, preprinted
circle on the filter paper, completely filling the circle.
Waiting too long before application will allow cells and
plasma to separate or the blood to clot. To avoid damaging
the filter paper fibers, do not allow the capillary tube to
touch the filter paper. Actions such as
“colouring in” the circle, repeated dabbing around the
circle, or any technique that might scratch, abrade,
compress, or indent the paper should not be used. These
actions may lead to compression of the filter paper and
inaccurate blood volume collection.
Do not reuse capillary tubes.
Apply blood to only one side of the filter paper. Do not
apply multiple capillary specimens to the same circle,
since caking or heterogeneous spreading will occur and
might adversely affect test results.
Collect the required number of uniform blood spots.
Failure to collect the appropriate number of blood spots
might result in the sample being unsatisfactory for
analysis due to insufficient blood.
After blood has been collected from the heel of the
newborn, the foot should be elevated above the body, and
a sterile gauze pad or cotton swab pressed against the
puncture site until the bleeding stops.
Dorsal hand vein
Although not the method of choice, blood collected from
needle puncture of the dorsal hand vein and its application
directly onto the preprinted circles of the filter paper is
possible. Blood should not be drawn from an extremity
into which IV fluids have been infused unless appropriate
precautions are taken.
Select the appropriate sized winged blood collection set
(butterfly). Remove or shorten catheter length so blood
can flow freely onto the circle on the filter paper. Use
standard pediatric venous collection procedures.
Collect the required number of uniform blood spots.
Failure to collect the appropriate number of blood spots
might result in the sample being unsatisfactory for analysis
due to insufficient blood.
 Newborn Screening Manual
Dorsal hand vein collection (not the method of choice)
• Test results might be affected by blood from different
vessel sources
• Hand veins might be needed for IV fluids
• Venous sampling is more invasive than a heel stick.
Umbilical Venous Catheter (UVC) or
Umbilical Arterial Catheter (UA C)
Although not the method of choice, blood collected from
umbilical catheters is acceptable in certain situations (e.g.,
sick infants or in very low birth weight infants). Although
unknown, it is reasonable to expect that there might be
some difference in analytic test results between blood
taken from the heel and that collected by umbilical
catheters.
Drawn 2cc blood from the line in order to clean it before
the blood is collected for testing purposes.
After cleaning the line, collect blood in an anticoagulant-
free syringe and immediately apply appropriate volumes to
the printed circles on the blood spot collection card. It is
important that the blood transfer be as quick as possible to
avoid blood clotting that might invalidate the specimen for
testing. Collect the required number of uniform blood
spots.
Recommendations apply to all neonates
receiving intensive care:
1. The Nurse in-charge in NICU/SCU should collect the
newborn screen by heel-prick. "
2. Time of collection: Collect the initial newborn screen"
a. Collect before treatment (antibiotics, steroids, parenteral
nutrition) is started or transfusion given, even if less than
24 hours, unless medically indicated. Otherwise, collect at
24-48 hours. "
b. If the initial screen was collected at less than 24 hours,
order another newborn screen collection at 48 hours to 7
days at the latest. "
c. Arrange for additional collection if infant was transfused
prior to initial screen."
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3. All transferred infants must be screened at any age
after admission to NICU/SCU. "
4. Screen all infants at least twice if hospitalised more
than 7 days. Order another screen prior to discharge or at
28 days, whichever comes first. "
5. The assigned neonatologist at NICU/SCU should
check with the NSO co-ordinator for newborn screen
results at 7 days and prior to discharge. Make sure
screening was done, report(s) received, and no repeats
are needed."
6. The NSO neonatologist should communicate the
positive result to the assigned neonatologist at NICU/
SCU."
7. The assigned neonatologist at NICU/SCU should
watch for signs of conditions, even if screening results
are normal. "
Specimen handling after collection:
After application to the blood spot collection card, avoid
touching or smearing the blood spots.
Allow the blood specimen to air dry at an ambient
temperature of 15°C to 22°C, on a horizontally level,
non-absorbent, open surface for at least three hours.
Keep the specimen away from direct sunlight (indirect
room light is not usually detrimental unless accompanied
by heat).
Blood spots on the filter paper should not be heated,
stacked, or allowed to touch other surfaces during the
drying process.
Since cross-contamination between specimens might
occur, specimen-to-specimen contact is not appropriate.
Once the blood is fully dried, Specimens should be sent
to NS laboratory by the appropriate delivery method .
It is critical that NSO receives the newborn screening
specimen card as soon as possible after the blood spots
are collected. Therefore, the cards should be sent no
later than 24 hours after collection, and ideally, as soon
as the blood spots are dry (4-6 hours after collection).
DO NOT BATCH NEWBORN SCREENING SAMPLES.
 Newborn Screening Manual
Common Errors in the completion of the
newborn screening blood spot collection
card:
1. Missing critical data fields (e.g. missing date of
collection or date of birth)
• Please ensure all fields on the card are completed
prior to sending the sample to NS laboratory
2. Entering in the incorrect date of collection when a
sample is collected close to midnight
3 Using expired blood cards
• Prior to obtaining the sample, please check that the blood
spot collection card is not expired. The expiry date is
located in the upper right hand corner of the card next to
the image of an hourglass, under the circles for the blood.
The expiry date is in a year month format (i.e. 2012-05).
Note :
Samples received at NSO. laboratory greater than 14
days after collection are unsatisfactory, however, they
will be analyzed. If the results are “screen positive” for
any disease, this will be reported. The quality of the
results cannot be assured due to possible sample
degradation resulting from the length of time since
collection and a repeat sample will be requested.
Transport Guidelines for Dried-Blood
Spot Specimens!
Role of the Newborn Screening Specimens transport
personnel :
1. Receiving newborn screening samples from the
assigned nursing staff at NSO with registration of details
of each of received samples, total number of sample
received and time of receiving of samples in registration
book.
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2. Assuring adequate transport of newborn screening
samples according to Transport Guidelines.
3. Delivering newborn screening samples to the assigned
newborn screening laboratory staff at Kuwait Medical
Genetics Centre with registration of details of each
received samples, total number of sample received and
time of receiving of samples in registration book.
Proper packing of dried-blood spot specimens:
1. Proper packaging and labelling notifies employees and
transportation personnel of package’s contents. Once
DBS are completely dry, fix them on alternating sides so
that blood spot cards from different patients are not
touching each other. Pack 10-15 blood spot cards in
recommended paper envelope.
2. Avoid packaging of DBS specimens in plastic, foil
bags, or other airtight, leak-proof sealed containers. Lack
of air exchange in the inner environment of a sealed
container causes heat to buildup and moisture
accumulation. Heat, direct sunlight, humidity, and
moisture are also detrimental to the stability of DBS
specimens and to analyte recovery. The inclusion of
desiccant packs with the primary cold (ice bag) container
will aid in preventing moisture accumulation.
Checking validity of dried-blood spot specimens for
testing:
Dried-blood spot specimens arrived at Newborn
Screening Unit. Kuwait Medical Genetics Centre, first
examined for validity of testing according to the
standards protocol. Each blood card should be examined
for collection quality and possible damage and a note
should be made of any poor quality samples. Specimens
invalid for testing are returned back to the sender."
Data registration for dried-blood spot specimens:
Dried-blood spot specimens arrived at Newborn
Screening lab. Kuwait Medical Genetics Centre should
be registered in delivery book for each hospital with
signature of the receiving technician with time and date
of delivery." All arrived DBS specimens are registered in
Newborn Screening database system"
Transportation of the positive screen results:
All results should reach NSCTL at Sabah hospital from
Newborn Screening lab at KMGC for further discussion
with the whole biochemistry team.
 Newborn Screening Manual

Unsatisfactory specimens for specimen quality reasons

When each specimen is received and accessioned in the Newborn Screening laboratory, it is
reviewed for specimen quality and quantity. Unsatisfactory specimens are identified and a repeat
specimen is requested.

A satisfactory The blood must fully soak through to the back of the filter
newborn screening paper. No areas of white should be visible on the front or
specimen back of the circle.
It is estimated that 75 uL – 100 uL of blood is required to fill
one circle on the filter paper. The newborn screening test #
calculations assume that the blood is evenly distributed
within the circle and completely saturates both sides of the
filter paper.

Quantity of blood Circles not sufficiently filled. Although the blood has soaked
insufficient through to the back of the card, the volume is not sufficient
for testing.

#
The specimen appears sufficient from the front but is
insufficient when viewed from the back.

#
Both sides of the filter paper should be examined to assure
that the blood has uniformly penetrated and saturated the
paper.
Please do NOT apply blood to both sides of the card.
Failure to collect the appropriate number of blood spots may #
result in the specimen being unsatisfactory for analysis due
to insufficient blood

Blood spots appear If you are using a capillary tube or butterfly to collect the
scratched or blood specimen, do not allow the capillary tube or butterfly
abraded to touch the filter paper to avoid damaging the filter paper
fibers. Actions such as “coloring in” the circle, repeated
dabbing around the circle, or any technique that might #
scratch, abrade, compress, or indent the paper should not be
used. Do not use the infant’s heel to attempt to force the
blood through to the back side of the blood spot collection
card. This may damage the fibers of the filter paper. These
actions may lead to compression of the filter paper and
inaccurate blood volume collection.

Blood spots are wet Do not allow water, feeding formulas, antiseptic solutions,
and/or discolored glove powder, hand lotion, or other materials to come into
contact with the specimen card before or after use. Ensure
that the infant’s heel is dry and free of alcohol prior to
performing the heel stick. #

Blood spots are Repeated application of blood in the same area or super
supersaturated saturation of the filter paper may lead to an excess volume of
blood being analyzed during testing, potentially resulting in
false negative or false positive screening results.
#

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 Newborn Screening Manual

S p o t s a p p e a r Ensure that the puncture site is clean and dry before

diluted collecting the specimen. Protect the specimen during the
drying process.

Blood spots exhibit Excessive milking or squeezing the puncture may cause
serum rings hemolysis of the specimen or result in a mixture of tissue
fluids
with the specimen which can adversely affect the test result.
#

Blood spots clotted Applying successive drops of blood to already partially

or layered dried spots causes “layering” and inaccurate blood
volume collection, which results in non-uniform analyte
concentrations.
#

Blood spots delayed The blood spot collection cards arrived in a wet or damaged
in transit envelope.

Unsatisfactory specimens due to missing To identify samples which to reject NS laboratory use check
demographics list to confirm acceptability of samples :

All fields on the blood spot collection card should be filled

in as completely as possible. A complete newborn screening
report cannot be issued if certain critical fields are not
completed.

Critical fields:
Please ensure that the following fields on the newborn
screening requisition are completed:

• Mother information,
• The infant’s date of birth,
• The date of specimen collection,
• Birth weight,
• The Submitting NSO,
• Gestational age.

Failure to provide all information on the card may

result in delays in retrieving an infant who screens
positive or may make interpretation of the results
more difficult.

Once notified of an unsatisfactory specimen. The NS

laboratory should attempt to communicate the need for a
repeat specimen to NSOs .

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 Newborn Screening Manual
Notification of positive screens:
1. If the result is normal do not contact the parents
and no further intervention is required.
2. If the result is positive or equivocal, the coordinator
at the newborn screening unit at KMGC should contact
the co-coordinator at Newborn Screening Office (NSO)
by phone, email and to send the result by fax, after
senior clinical biochemist authorization uses NBS
Report form.
3. The coordinator at the NSO should contact the
parents bringing their baby for assessment and to
initiate the confirmatory tests.
4. For positive DELFIA screen the coordinator of NS
lab. at KMGC should :
i. Retest the same sample if the result is borderline. If
the retested sample is borderline inform the NSO
coordinator.
ii. Inform the NSO coordinator to take a confirmatory
testing, if the result is significantly high
5. For positive Tandem MS screen the coordinator of
NBS lab at KMGC should:
i. Retest the same sample for all the positive in
duplicate at KMGC lab.
ii. Inform the NSO coordinator, according to the
protocol of retesting.
6. The co-coordinator at (NSO) should contact the
responsible specialist (Inborn error of metabolism
(IEM)/ Endocrinologist) to inform about the baby’s
clinical status and to initiate the required confirmatory
tests.
7. The nurse of NSO should collect the confirmatory
tests (second filter paper, urine or plasma) (Appendix
5)
8.The confirmatory sample should be accompanied
with a request form clearly showing the positive
screening result and with the official stamp for
confirmatory testing.
9. The coordinator at the NSO should send the
confirmatory samples to NSCTL at Sabah hospital or
relevant confirmatory labs.
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10. Confirmatory report will be sent from NSCTL at
Sabah hospital to NSO at the KMGC
11. NSO laboratory at the KMGC will send the final
report to co-coordinator at NSO hospitals by telephone,
email, fax and a hard copy to be attached to medical
record.
12. The data entry personnel in newborn screening unit at
KMGC should receive and enter the data into the
software data registry system for newborn screening.
13. Annual report should be submitted by the newborn
screening unit at KMGC to Newborn Screening
Committee and a copy to the Pediatric Council.
Missed newborn screens
We hope to have network system that link to registry
system of the newborn in Kuwait which make us alert
with any infants exceed 14 days without screen, also can
give data about newborn screen declined by family ,
incorrect date of birth entered at birth , missed infant by
human mistake
Newborn screening education for health
care providers
Education about newborn screening is vital to the success
of the program. It is recommended to provide orientation
about newborn screening to all new employees, including
review of this manual.
Newborn screening education for parents
Parent education is essential to successful newborn
screening. Informed parents are better able to understand
screen positive results and the next steps in the process. In
addition, informed parents may experience less anxiety
associated with a repeat test request for an unsatisfactory
sample.
Education materials available
- Arabic brochure for parents
- English brochure for parents
 Newborn Screening Manual

Privacy and confidentiality

Kuwait National Newborn Screening Committee
maintains the privacy and confidentiality of the health
information and dried blood spot samples it receives.
Some parents may have concerns about the use of their
children’s health information or secondary uses of the
dried blood spot samples. Accordingly, health
information provided to NSO (including screening
results) may be used for the following purposes:
Therefore storing samples for this length of time
would allow investigation and possible re-testing if a
child was diagnosed with one of the conditions on our
panel following a negative newborn screen. It would
also allow confirmation of whether or not a screening
sample was obtained on the child.

• To provide care.
Personal health information is used
by care providers and trainees who are part of a child’s
health care team. Use of the dried blood spot samples

• To teach. Occasionally, the dried blood spot samples may be

A child’s information may be used to support
our partnership with the Kuwait Board of biochemistry
and pediatric medicine , while adequately protecting
their privacy.
• To conduct research and compile statistics.
Researchers may use health information while working
on a study approved by the Kuwait Ministry Of Health
Research Ethics Board.
• To improve the care
we provide by conducting quality improvement and
risk management activities.
used for other purposes after testing is finished. These
include:
• Quality control and quality assurance within the NBS
laboratory;
• Retesting the sample to help make a diagnosis when
requested by NSO
• After a legal warrant if the infant has died
unexpectedly
• For other testing at the parent written request;

• Samples may be used for research approved by a

research ethics board if all identifying information has
Storage of the dried blood spot samples been removed so it is impossible to link an individual
with the research results and written consent taken
Dried blood spot samples are stored in a secure facility from the parents
for 6 months, as they are a part of a child’s medical
record. After 6 months, the samples are destroyed.
NSO laboratory regularly checks the screening cutoffs
and the stored samples assist NSO laboratory in
performing this task. If a infant with a negative
newborn screen is diagnosed with one of the diseases
screened, the infant’s stored sample can be re-tested.
This helps NS laboratory assess why the infant was
missed in the newborn period, and potentially stops the
same thing from happening again in the future.

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 Newborn Screening Manual
Overview of NSO process
It is a responsibility of NSO to ensure that all infants
born in Kuwait are offered the newborn screening test .
A small sample of blood from the newborn is collected
on a special paper card and then sent to the NSO
laboratory for testing. Parents may decline screening,
and NSO should discuss this decision with parents and
document dissent by parents. While, as with many
standard medical practices, there is no formal
document for consent, NSO provide education to
ensure information is available to parents to make
informed decisions for their infants.
It is important that antenatal health care provider and
prenatal educators discuss newborn screening with
prospective parents. Pamphlets in multiple languages
Arabic/English are provided by KNNSC to NSO.
KNNSC provides the transportation system for
samples to be submitted from NSO for analysis in the
laboratory. Data from the submitted card is entered into
the screening information system.
The screening tests are performed and the results are
interpreted by biochemistry consultant in Sabah
laboratory to determine whether the risk that an infant
has a targeted disorder is high or screen negative
Newborn screening laboratory are separate from any
other laboratories and are located in Kuwait Medical
Genetic Center at Ghanima Ahmed Alghanim center in
Maternity hospital of Sabah health region.
Sample are received daily in NSO laboratory at
KMGC from 08:00 am to 02:00 pm and in holidays
from 08:00 to 01:00 pm
All specimens received are assessed for quality and
quantity for subsequent entry into the NS database
Blood cards suitable for analysis are bundled into
groups of 78 and passed on to the technicians in charge
of punching on the multi-puncher.
Blood spot punching:
A “punch” is an excised circle of blood which is
subsequently used for sample analysis. All samples are
punched into Microplates that are designated for a
specific method/procedure. The minimum number of
punches required for a collection to be of sufficient
quantity is currently 7. This may increase as the newborn
screening panel expands. NSO uses 3.2 mm punches,
which are taken from the blood spot collection card.
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Re-punched samples:
Specimens may be unsuitable for several reasons:
• Machine malfunction
• QC issues
• Instrumental flags
• Equivocal results of unknown reason
In these situations, the sample will typically be re-
punched singly and processed for the specific analyte
• Specimens flagged as an initial positive are re-
punched in duplicate for confirmation and reported out
the following day.
Exceptions where an abnormal result will be re-
evaluated for confirmation on the same day of initial
analysis include very provocative results for disorders
where the delay in diagnosis may have catastrophic
consequences
Data entry
Data entry clerks are responsible for entering
demographic information into the NSO database on
every infant whose sample we receive. In order to
ensure accuracy. This information includes the infant
and mother’s name the submitting hospital/ doctor/ and
contact information for the infant’s mother. In the
event that an infant screens positive, this information
allows the NSO to contact the family immediately to
arrange further testing. If any critical information is
missing, a data entry clerk contacts the submitter to
obtain the missing information. The NSO data entry
team aims to enter all information on the same day that
a specimen is received , this can be up to 400
specimens daily.
Screening methodology
Procedure for amino acid and acylcarnitine analysis
by Tandem Mass Spectrometry
Scope or principle:
There are a variety of metabolic inherited diseases that
result in changes in the metabolism and transformation
of amino acids. A large number of amino acids are
quantitatively analysed using Tandem Mass
S pectrometry (TM S ) w ithout the need for
chromatographic separation. By forming butylated
derivatives of the free carboxylic acid group(s) using
positive electrospray (ESI+), charged specimen are
created allowing the analyte to be detected in the mass
spectrometer. TMS offers an efficient method that has
proven to be relatively fast, simple and specific for
amino acids.
 Newborn Screening Manual
There are a variety of metabolic disorders characterized
by organic aciduria. Some disorders involving fatty acid
oxidation defects may present with non-specific organic
aciduria or an uninformative profile when the patients
are asymptomatic, especially in the newborn period.
Difficulty in identifying asymptomatic children
necessitates the identification of specific metabolites
characteristic of these inherited diseases. Acylcarnitines
have been identified as being specific indicators for
some of these metabolic disorders. Since acylcarnitines
are highly polar non volatile compounds, GC-MS, which
depends on sample volatilization, is an inefficient
technique for the analysis of such compounds. Therefore
a method for acylcarnitine profiling and quantitation
using ESI+ with TMS has been developed.For example
Hepatorenal tyrosinemia (HT) is an inborn error of
metabolism that affects a number of organs including
liver, kidney and bone. The clinical presentation is
variable.
Neonatal by DELFIA system
• 17α-OH-Progesterone
• Thyroid stimulating hormone
• Biotinidase enzyme
• Galactose transferase enzyme
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DELFIA :
Dissociation-Enhanced Lanthanide Fluorescent
Immunoassay) is a robust, high-performance
immunodetection platform that provides a combination of
benefits that make it the superior alternative to
conventional ELISA. DELFIA utilizes the unique
chemical properties of lanthanide chelates in concert with
time-resolved fluorescence (TRF) detection to create an
assay that offers high sensitivity, wide dynamic range,
superior stability, and excellent flexibility. Given the
robust nature of DELFIA technology and the advantages it
holds over traditional ELISA.
Clinical note
Abnormal TSH results at <24 hrs of age
TSH is commonly elevated in infants less than 24
hours of age. If an infant has an elevated TSH on a
sample taken at less than 24 hours of age, newborn
screening laboratory informs the NSO immediately and
requests a repeat newborn screen. If a normal repeat
screen is received and is screen negative for congenital
hypothyroidism, the infant does not need to be referred
as screen positive
 Newborn Screening Manual

Disorders Appearance of Risk of Screening Factors causing false Factors causing false
symptoms crisis time positive results negative results

• TSH surge in first • delayed rise of

first year of life, 12-24 hours TSH in affected
Congenital early treatment 12 - 72 hr and • topical iodine on baby • infants, particularly
hypothyroidism prevents mental 2 - 6 weeks or breastfeeding if preterm
retardation, mother (immature
developmental • maternal hypothalamic-
delays hyperthyroidism pituitary-thyroid
treated with axis)
propylthiouracil, • dopamine therapy
• acute illness until (suppresses
recovered • TSH)
• iodine deficiency • steroid treatment
(suppresses TSH &
T4)
yes • preterm birth or LBW • maternal steroid
Congenital first week of life 12 - 48 hr and • sick or stressed infant treatment steroid
adrenal 2 - 4 weeks • mother with CAH and (dexamethasone)
hyperplasia elevated treatment in infant
• 17-OHP
• early collection (<24 hr
of age)
• heat with humidity • transfusion of
Biotindase 1 week – 10 birth - 72 hr damage to specimen plasma or other
years of age • prematurity blood products
(most show • liver disease
Symptoms • , jaundice
between 3 – 6
months of age)
yes • heat damage to • red blood cell
Galactosemia first week of life birth - 48 specimen, transfusion
hours • age of specimen
(received by lab more
than 4 – 5 days after
collection)
6 - 8 months of • parenteral nutrition • early collection
PKU age • liver dysfunction or (<24 hours of age)
(irreversible 24 - 48 hours immaturity or collection only a
brain • maternal PKU or few hours after
damage hyperphe uncontrolled transfusion or
happens if by diet or medication discontinuation of
treatment is not ECMO
started in first
weeks
of life)

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 Newborn Screening Manual

yes • parenteral • early collection (<24

MSUD first two weeks of nutrition hours of age) or
life 24 - 48 hours • liver dysfunction collection only a few
or immaturity hours after transfusion
or discontinuation of
extra corporeal
membrane oxygenation

3 - 7 days • parenteral • early collection,

HCY nutrition pyridoxine responsive
• liver dysfunction cases are not
or immaturity identified by NBS

yes 24 - 48 hours • parenteral • early collection or

CIT & first two weeks of nutrition collection only a few
ASA life • liver dysfunction hours after transfusion
or immaturity or discontinuation of
extra corporeal
membrane
oxygenation
3 – 4 months of more than 1 • liver dysfunction
TYR 1 age week of age or immaturity
(liver is damaged
by
that time)
first few days to yes • carnitine
FAO months or years supplementation,
disorders (more easily MCT oil
detected during birth - 48 • fatty liver of
acute illnesses or hours pregnancy or
during times of HELLP
increased energy syndrome* can
need) cause elevated
even chain
acylcarnitines

MCD, yes maternal Vitamin

MMAs, 24 - 48 hours B12 deficiency
PA
Organic yes parenteral nutrition
acid first two weeks of 24 - 48 hours
disorders life
IVA first two weeks of yes 24 - 48 hours pivalic acid
life antibiotic therapy

3MCC yes 24 - 48 hours asymptomatic

mother with
3MCC, unaffected
infant

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Newborn Screening Manual

Special consideration that affect the results of screening:

1. Transfusions
The first newborn screening test should be collected prior to any transfusion, This is necessary to avoid
false negative results for many disorders. Any transfusion of red blood cells (whole blood, packed RBCs
or ECMO) can cause false negative results for galactosemia and this effect lasts until the donor red blood
cells have been replaced (3 – 4 months after the last transfusion). Re-screening then would be necessary
unless a previous screen had been collected prior to transfusion.
Note that for galactosemia a specimen collected prior to 24 hours of age is valid and yields reliable results.
Transfusions of whole blood (or plasma,) can cause false negative results for all screened disorders for 4 –
72 hours after the transfusion (except for galactosemia the effect lasts for 3 – 4 months).

2. Parenteral Nutrition (PN)

Parenteral nutrition can cause false positives for amino acids and fatty acids. Multiple amino acid
abnormal results can be an indication of excess free amino acids from the parenteral nutrition solution or
liver problems (immature enzymes or illness so that liver enzymes can’t handle the amino acids fast
enough to prevent a rise in amino acid concentration in the blood). Medium chain fatty acids are also
added to parenteral nutrition solutions and can be present in higher amounts in the blood. Prolonged PN
can lead to carnitine depletion. A false positive result for IVA (elevated C5) is also possible. A repeat
screen should be collected 24 – 72 hours after PN is stopped, if a previous screen had abnormal results.

3. Maternal Conditions
• A mother with hyperthyroidism treated with antithyroid agent can deliver a baby with transient
hypothyroidism (elevated TSH on the newborn screen). Positive results will occur until the drug
clears the newborn’s system - between 7-14 days after birth. A repeat screen or other thyroid
testing should be done around two weeks of age.
• A mother with CAH can deliver a baby with a false positive result for 17-OHP. The newborn
should be re-screened between 3 and 7 days after birth.
• Transient hyperphenylalaninemia in the newborn is a result of a mother with uncontrolled PKU
(high phenylalanine levels). This effect will normalize within 12 – 24 hours, unless the baby also
has PKU.
• A mother treated with steroids during pregnancy can deliver a baby with a false negative result for
CAH since steroids can suppress fetal adrenal function. The length of the effect depends on the
class of steroid and the dose, and is unknown but estimated at 1 – 2 weeks after birth. A repeat
screen done later than 2 weeks of age would be needed.
• Maternal carnitine or Vitamin B12 deficiencies can cause false positive results for C0 (carnitine)
and C3 (Vitamin B12). The effects can last several days depending on the nutrition provided to the
newborn (for B12 deficiency) – the duration of the effect of carnitine deficiency is unknown).
• Carnitine supplementation can cause false negative results for C0 during supplementation and for
some weeks afterwards. It can also cause false positives for other acylcarnitines. This effect lasts
approximately 4 days.
• A mother with 3MCC can have an unaffected baby with elevated C5OH. The duration of this false
positive effect is unknown.

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4. Sick or stressed infant

A sick or stressed newborn can have elevated 17-OHP (false positives for CAH) until recovered. Liver
disease and jaundice can cause false positives for many disorders ( tyrosinemia, homocystinuria, PKU,
biotinidase deficiency )

5. Preterm or low birth weight infant

• Elevated tyrosine and 17-OHP and low biotinidase are common results for preterm or low birth
weight babies (false positives for tyrosinemia, CAH and biotinidase deficiency).
• False positives for amino acids disorders are a result of immature liver enzymes.
• A false negative result for hypothyroidism caused by an immature hypothalamic/ pituitary/thyroid
axis where TSH does not rise in response to low T4 levels can last for more than a month after
birth. Since the newborn screen now measures only TSH, this possibility should be considered for
all preterm and low birth weight babies, even though the hypothyroidism is usually transient.

6. Steroid or antibiotic treatment

• Dopamine therapy suppresses TSH and can cause false negative results for hypothyroidism until
the drug is discontinued.
• Steroid therapy (including dexamethasone) suppresses TSH and can cause false negative results
for hypothyroidism as well as false negative results for CAH. This effect can last for 1 to 2 weeks
after therapy has been stopped.
• Antibiotics conjugated with pivalic acid (for example, pivampicillin) can elevate C5 (false
positives for IVA). This effect lasts until the drug clears the baby’s system (at least 24 hours after
discontinuing therapy).

7. Early collection (prior to 24 hours of age)

• False positives for hypothyroidism and CAH are possible because of the normal hormone surge
after birth.
• False negatives for amino acidopathies and organic acid disorders are possible with early
collection but specimens collected shortly after 24 hours of age are reliable.

8. Late collection
• Collection of a first screen after 48 hours of age can show false negative results for fatty acid
oxidation disorders. A well fed state can mask indications of a FAOD so it is important that a first
screen be collected between 24 and 36 hours if at all possible.
• If a baby has an abnormal result for any FAOD on a first screen and then has a normal result on
the second, that second result cannot be taken to mean that the baby had a false positive on the
first screen. All babies with abnormal results on first screens should have diagnostic testing done
to confirm or rule out the possibility of a disorder even though their second screen is “normal.”
Very few false positive results for fatty acid oxidation disorders ever occur.
• Late collection is also not helpful in identifying disorders that have early crises since results will
not be available when symptoms start to appear. Disorders which can have serious consequences
if not diagnosed early include galactosemia, MSUD, salt-wasting CAH, urea cycle disorders,
organic acid disorders and some fatty acid oxidation disorders.

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Kuwait National Newborn Screening Panel of 22 Disorders

These are the original core disorders of the recommended by Kuwait National Newborn
Screening Committee (KNNSC).
Early identification and lifelong treatment of these disorders can help to prevent many of the
harmful consequences of the disorders and in many cases affected babies can grow and develop
normally.

Endocrine Disorders (2 disorders)

Endocrine disorders occur when one or more of the body’s hormones cannot be produced while
others are overproduced. Hormones regulate metabolism and are necessary for the normal
function of the body’s organs.

Congenital hypothyroidism (CH)

• A common*, endocrine condition resulting from deficient thyroid hormone secretion. It is not
often an inherited condition and is most commonly caused by a failure of the thyroid gland to
develop properly.
• If undetected, developmental delays, poor growth and mental retardation develop before
diagnosis is made and most of this damage is not reversible with treatment. A newborn with CH
may have feeding problems, lethargy, hypotonia, jaundice and constipation.
• Treated with daily oral doses of thyroid hormone. If treatment begins by two weeks of age a
baby can develop normally.
• Risk of this disorder is detected by an immunoassay for elevated thyroid stimulation hormone
(TSH).

Congenital adrenal hyperplasia -21-hydroxylase deficiency (CAH)

• A relatively common*, inherited group of disorders (autosomal recessive) marked by deficiency
or absence of one or more enzymes essential to the production of adrenal cortex hormones. The
enzyme involved most commonly is steroid 21-hydroxylase. This results in the inability to
synthesize cortisol, aldosterone or both and also results in an overproduction of adrenal
androgens.
• Symptoms include ambiguous genitalia in girls and in the salt-wasting form of the disorder,
vomiting, dehydration, electrolyte imbalances (hyponatremia and hypokalemia), hypotension,
shock and even death within 2 weeks of birth.
• Treated with hormone and electrolyte replacement with possible surgery for virilized females.
Early treatment can prevent salt-wasting crises and growth and development problems.
• Risk of this disorder is detected by an immunoassay for elevated 17α- hydroxyprogesterone
(17-OHP).

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Amino Acid Disorders (6 disorders)

Amino acidopathies are disorders of amino acid metabolism that occur when enzymes needed to
break down specific amino acids or eliminate nitrogen from the body are deficient or absent.
Toxic levels of amino acids or ammonia accumulate and cause brain damage and even death.

Phenylketonuria (PKU)
• A relatively common*, inherited disorder (autosomal recessive) that occurs when the enzyme,
phenylalanine hydroxylase, necessary to break down phenylalanine, is missing or not working
properly.
• Without early detection and treatment, permanent mental retardation, behavioral problems and
eczema develop after a few months. Newborns with PKU seem healthy and symptoms do not
appear until irreversible damage has been done.
• Treatment is a low protein diet with most protein provided in a phenylalaninerestricted formula.
If treatment is started early, babies develop normally and have normal IQ.
• Risk of this disorder is detected with elevated phenylalanine by MS/MS.

Maple syrup urine disease (MSUD)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, branched
chain ketoacid dehydrogenase, necessary to break down ketoacid derivatives of leucine,
isoleucine and valine, is missing or not working properly.
• Symptoms develop within the first week of life - feeding intolerance, vomiting, lethargy and
progress to irreversible mental retardation, seizures, coma and death.
• Treatment is a low protein diet with most protein provided in a formula restricted in branched-
chain amino acids and dietary monitoring to prevent metabolic crises.
• Risk of this disorder is detected with elevated leucine by MS/MS.

Classical Homocystinuria (CHCY)

• Also called cystathionine β-synthase deficiency or CBS deficiency.
• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme,
cystathionine β-synthase, necessary to break down methionine, is missing or not working
properly.
• Symptoms develop slowly and include developmental delay, mental retardation, skeletal
abnormalities (marfanoid appearance), osteoporosis, blood clots and dislocated lens in the eye.
• Treatment is a low protein diet with most protein provided in a methionine restricted formula.
Vitamin B6 may be given along with other vitamin supplements.
• Risk of this disorder is detected with elevated methionine by MS/MS.

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Citrullinemia (CIT 1)
• A rare*, inherited urea cycle disorder (autosomal recessive) that occurs when the enzyme,
argininosuccinic acid synthetase, necessary to excrete the nitrogen from amino acids as urea, is
missing or not working properly.
• Crisis symptoms of hyperammonemia, which can appear in the first week of life, start with loss
of appetite, lethargy, hypotonia and vomiting and progress to seizures and coma. Prolonged
periods of hyperammonemia can cause brain damage (intellectual disability).
• Treatment is a low protein diet and special formula, supplementary arginine and other
medications along with avoiding going without eating for very long.
• Risk of this disorder is detected with elevated citrulline by MS/MS.

Argininosuccinic acidemia (ASA)

• Also called argininosuccinic aciduria or argininosuccinyl-CoA lyase deficiency.
• A rare*, inherited urea cycle disorder (autosomal recessive) that occurs when the enzyme,
argininosuccinyl-CoA lyase, necessary to excrete the nitrogen from amino acids as urea, is
missing or not working properly.
• Crisis symptoms of hyperammonemia, which can appear in the first week of life, start with loss
of appetite, lethargy, poorly controlled breathing rate or body temperature, hypotonia and
vomiting and progress to seizures and coma. Prolonged periods of hyperammonemia can cause
brain damage (intellectual disability) and developmental delay.
• Treatment is a low protein diet and special formula, supplementary arginine and other
medications along with avoiding going without eating for very long.
• Risk of this disorder is detected with elevated citrulline by MS/MS.

Tyrosinemia Type 1 (TYR 1)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme,
fumarylacetoacetate hydrolase, necessary to break down tyrosine, is missing or not working
properly.
• Symptoms develop in the first months of life but are not present immediately after birth.
Untreated, a baby with tyrosinemia will develop liver disease (enlarged liver, jaundice, cirrhosis)
and kidney damage leading to death. Early symptoms include lethargy, vomiting, diarrhea,
irritability and failure to thrive.
• Treatment includes medication, a diet low in tyrosine and phenylalanine and possibly a liver
transplant.
• Risk of this disorder is detected with elevated tyrosine by MS/MS.

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Fatty Acid Oxidation Disorders (4 disorders)

Fatty acid oxidation disorders (FAODs or FODs) occur when fatty acids cannot be completely
metabolized to produce energy because of defects in enzymes needed for this conversion. When
the body’s supply of glucose and glycogen are expended, fatty acids are broken down to supply
energy during periods of fasting or increased energy demands (fever, stress). Different defects in
the fatty acid oxidation pathway prevent the complete breakdown of fatty acids to produce energy
and a sudden crisis occurs which can leave an affected infant or child dead or with brain damage.
These conditions can yield false negative results if screening occurs after a baby is well fed.

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

• A relatively common*, inherited disorder (autosomal recessive) that occurs when the enzyme,
medium chain acyl-CoA dehydrogenase, necessary to break down fatty acids of medium chain
length (4 to 12 carbons long), is missing or not working properly.
• Symptoms present acutely with fasting and include hypoketotic hypoglycemia, vomiting,
lethargy, seizures, metabolic acidosis, hyperammonemia, hepatomegaly and death.
• Avoiding fasting (frequent feedings) and a low-fat diet can prevent metabolic crises.
• Risk of this disorder is detected with elevated C8 by MS/MS.

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, very long chain
acyl-CoA dehydrogenase, necessary to break down long chain fatty acids (12 to 18 carbons long),
is missing or not working properly.
• Symptoms present acutely with fasting and include hypoketotic hypoglycemia, cardiomyopathy
in many cases, vomiting, lethargy, seizures, metabolic acidosis, hyperammonemia, hepatomegaly
and death.
• Avoiding fasting (frequent feedings) and a low-fat diet (supplemented with MCT oil and
cornstarch), can prevent metabolic crises.
• Risk of this disorder is detected with elevated C14:1 by MS/MS.

Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, long chain
L-3-hydroxyacyl-CoA dehydrogenase, necessary to break down certain fatty acids (between 12
and 18 carbons long), is missing or not working properly.
• Symptoms include hepatomegaly, cardiomyopathy, lethargy, hypoketotic hypoglycemia.
• Avoiding fasting (frequent feedings) and a low-fat diet (low in long chain fatty acids and
supplemented with MCT oil and cornstarch), can prevent metabolic crises.
• Risk of this disorder is detected with elevated C16OH by MS/MS.

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Trifunctional protein deficiency (TFP)

• Also called mitochondrial trifunctional protein deficiency.
• A very rare*, inherited disorder (autosomal recessive) that occurs when a protein containing
three enzymes (long chain 3-hydroxyacyl-CoA dehydrogenase, long chain enoyl-CoA hydratase
and long chain thiolase) necessary to break down long-chain fatty acids is missing or not working
properly.
• Avoiding fasting (frequent feedings) and a low-fat diet (low in long chain fatty acids and
supplemented with MCT oil and cornstarch), can prevent metabolic crises.
• Risk of this disorder is detected with elevated C16OH by MS/MS.

Organic Acid Disorders (8 disorders)

Organic acidemias (OAs) are a group of inherited metabolic disorders that occur when certain
enzymes involved in the breakdown of amino acids and other substances are not functioning
properly. Toxic acids build up in the blood and spill into the urine (metabolic acidemia). Without
treatment and prevention of acute episodes, these disorders can lead to coma and death during the
first days or weeks of life.

Isovaleric acidemia (IVA)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, isovaleryl-
CoA dehydrogenase, necessary to break down leucine, is missing or not working properly.
• Symptoms include metabolic ketoacidosis, poor feeding, vomiting, dehydration, lethargy, rapid
shallow breathing, “sweaty feet” odor, hyperammonemia, coma and death.
• Avoiding fasting (frequent feedings) and a low-protein diet can prevent metabolic crises.
• Risk of this disorder is detected with elevated C5 by MS/MS.

Glutaric acidemia type 1 (GA-1)

• A relatively rare*, inherited disorder (autosomal recessive) that occurs when the enzyme,
glutaryl-CoA dehydrogenase, necessary to break down lysine, hydroxylysine and tryptophan, is
missing or not working properly.
• Affected infant is usually macrocephalic with later signs of metabolic ketoacidosis (during
periods of fasting or illness, which can progress to coma and death), failure to thrive,
irritability, hypotonia, poor balance and coordination and neurological problems.
• Avoiding fasting (frequent feedings) and a low-protein diet can prevent metabolic crises.
• Risk of this disorder is detected with elevated C5DC by MS/MS.

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3-Hydroxy-3-methylglutaric aciduria (HMG)

• Also known as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency or HMG-CoA lyase
deficiency.
• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, 3-
hydroxy-3-methylglutaryl-CoA lyase, necessary to break down leucine, is missing or not working
properly.
• Symptoms usually appear during the first year of life and include vomiting, diarrhea, lethargy,
hypotonia and metabolic acidosis (during a period of fasting or illness) which can lead to coma
and death.
• Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
• Risk of this disorder is detected with elevated C5OH and C6DC by MS/MS.

3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)

• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, 3-
methylcrotonyl-CoA carboxylase, necessary to break down leucine is missing or not working
properly.
• Symptoms usually appear during the first year of life and include lethargy, vomiting, hypotonia,
seizures, developmental delay and metabolic acidosis (during a period of fasting or illness) which
can lead to coma and death.
• Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
• Risk of this disorder is detected with elevated C5OH by MS/MS.

Multiple carboxylase deficiency (MCD)

• Also known as holocarboxylase synthetase deficiency.
• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, holocarboxylase
synthetase, necessary to attach biotin as a cofactor to certain carboxylase enzymes, is missing or
not working properly.
• Symptoms can appear during the first week of life and include poor feeding, lethargy, vomiting,
hypotonia, skin rash and metabolic acidosis which can lead to coma and death.
• Treatment consists of biotin supplementation.
• Risk of this disorder is detected with elevated C5OH and C3 by MS/MS.

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Methylmalonic acidemia

mutase deficiency (MUT)

• Also known as methylmalonic acidemia, Vitamin B12
• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, methylmalonyl-
CoA mutase, necessary to break down certain lipids, amino acids and cholesterol is missing or
not working properly. unresponsive.
• Symptoms include lethargy, dehydration, vomiting, hypotonia, seizures and metabolic
ketoacidosis which can lead to coma and death.
• Treatment includes avoiding fasting and a low protein diet to prevent metabolic crises.
• Risk of this disorder is detected with elevated C3 by MS/MS.
cobalamin disorders (Cbl A,B)
• Also known as methylmalonic acidemia, Vitamin B12
• Rare*, inherited disorders (autosomal recessive) that occur with a defect in the synthesis of
adenosylcobalamin, one of the active forms of Vitamin B responsive.
• Symptoms include lethargy, dehydration, vomiting, hypotonia, seizures and metabolic
ketoacidosis which can lead to coma and death which is needed as a cofactor for methylmalonyl-
CoA mutase, necessary to break down certain lipids, amino acids and cholesterol.
• Treatment includes Vitamin B12 , injections and a low protein diet.
• Risk of this disorder is detected with elevated C3 by MS/MS.

Propionic acidemia (PROP)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, propionyl-
CoA carboxylase, necessary to break down a product of protein and fat metabolism is missing or
not working properly.
• Symptoms usually appear during the first week of life and include poor feeding, lethargy,
vomiting, dehydration, hypotonia and metabolic ketoacidosis which can lead to coma and death.
• Treatment includes avoidance of fasting and a protein-restricted diet to prevent metabolic crises.
• Risk of this disorder is detected with elevated C3 by MS/MS.

Beta-ketothiolase deficiency (BKT)

• A very rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, β -
ketothiolase, necessary to break down isoleucine, is missing or not working properly. This
disorder also impairs the body’s ability to process ketones, which are produced during the
breakdown of fats.
• Symptoms usually appear during the first year of life and include lethargy, vomiting, seizures,
and metabolic acidosis (during a period of fasting or illness) which can lead to coma and death.
Long term complications include developmental delay, cardiomyopathy and hypotonia.
• Treatment includes avoidance of fasting and a low protein diet to prevent metabolic crises.
• Risk of this disorder is detected with elevated C5OH and C5:1 by MS/MS.

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Other Enzyme Deficiencies (2 disorders)

Biotinidase deficiency (BIO)

• A rare*, inherited disorder (autosomal recessive) that occurs when the enzyme, biotinidase,
necessary to recycle the vitamin biotin is missing or not working properly. Free biotin is needed
as a cofactor for carboxylase enzymes and if it cannot be freed from its bound form by
biotinidase it is not available to be used as a cofactor.
• Symptoms which usually appear in a few months of age include seizures, hypotonia, hair loss
and skin rashes. Untreated, developmental delays, speech problems, hearing loss and ataxia
develop.
• Treatment is daily supplementation with biotin.
• Risk of this disorder is detected by DELFIA system for biotinidase enzyme (BIO) .

Galactosemia (GALT)
• Also called galactosemia type 1 or classic galactosemia.
• A rare*, inherited disorder (autosomal recessive) marked by the inability to metabolize
galactose because of a deficiency of the enzyme, galactose-1- phosphate uridyl transferase
(Gal-1-PUT), which is needed to convert galactose to glucose.
• Symptoms which start in the first week of life include jaundice, vomiting and feeding problems
leading to failure to thrive or even death. Even with treatment (a diet without any galactose),
many affected children have some development delay or mental deficit, speech or language
problems, cataracts or enlarged liver.
• Risk of this disorder is detected by an enzyme assay for Gal-1-PUT (GALT) and total
Galactose (T.GAL) by DELFIA .

Other Disorders and Incidental Findings

Some of the secondary disorders that have been detected Newborn Screening Program along
with incidental findings (carrier states) include:
• Non-classical CAH
• Hyperphenylalaninemia
• Hypermethioninemia
• Partial biotinidase deficiency
• Galactosemia carrier or Duarte variant galactosemia
• Carnitine palmitoyl transferase deficiency type II (CPT-2)

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Appendix 1

Filter paper for dried –blood spot specimens

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Appendix 2

Referral form for early discharged babies

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Appendix 3

NBS report form for Tandem MS/MS

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Appendix 4

NBS report form for DELFIA

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Appendix 5
Hospital Name Date:

Complete data on collection cards

Valid Collection cards
• Not expired
• Not torn

• Newborn or mother details

• Birth date
• Collection date
• Birth weight
• Gestational age
• Sex
• Parent’s phone
• Hospital informations (use the mailing address and post code
box)
Specimen Quantity sufficient for testing

Specimen Quality valid for testing

• Dry Specimen

• Specimen not scratched or abraded or torn

• No clotting , super saturation or uneven

saturation

• No contamination or serum rings

Specimen < 14 days after date of collection

Sender Newborn Screening Office Staff

Total No. Of Valid specimen sent:
Signature : Date: / / Time:
KMGC Laboratory Staff
Total No. Of Valid specimen received:
Signature : Date: / / Time:

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Appendix 6

Laboratory refusal form

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Appendix 7

Low birth weight and sick newborns guideline

Preterm and/or LBW (<1800 Grams)

Collect 3 samples
1. Initial (at 24-36 hrs of age)
2. At 14 days of age or discharge (if discharged before 14 days
of age)
3. At 30 days of age or at discharge (if discharged between
21-30 days of age)

If the newborn
If the newborn is
requires blood If newborn already receiving
transfusion or TPN received blood continuous blood
before 24 hrs of transfusion or TPN transfusion or TPN
age

Collect sample Collect initial Collect initial sample to

before transfusion or sample to be be repeated 72 hrs after
TPN to be repeated repeated at 14 and discontinuing transfusion
at 14 and 30 days of 30 days of age or at or TPN and at 90 days
age or at discharge discharge post-transfusion

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Appendix 8

Newborn admitted to NICU

Collect prior to treatment, if possible

Normal result Abnormal result

Prior to 24hrs

Collect another Follow Standard

specimen at 2-7 days Discharged Protocol
within 7 days
Normal result Abnormal result

Follow standard Not discharged Verify prior to

Protocol within 7 days discharge

Collect another
Abnormal
Normal result specimen at discharge
result
or at 28 days whichever
is soonest

Verify prior to discharge Follow standard Protocol

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Newborn screening flow chart

At each hospital included in the newborn screening

program

Collection and gathering of Newborn Screening Samples from labor room,

postnatal wards and Newborn Screening Office by the responsible nursing staff
according to the standard protocol for sample collection

Checking the validity of collected samples by the responsible nursing NBS staff
according to the standard check list

Registration of collected Newborn screening samples in standard registration

book by the responsible NBS staff with a copy of list of collected samples
delivered to the Newborn screening co-ordinator

Delivery of samples to the Newborn screening transportation personnel by the

responsible nursing staff with registration in delivery book with list of collected
samples and date and time of delivery

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Newborn screening flowchart

Abnormal Screening Results

Retesting the same filter paper at KMGC

Confirmatory testing in NSCTL at Sabah

Hospital

Consult Specialist

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Newborn screening flow chart

At Newborn Screening Office

Recall of positive screen by the responsible nursing staff

Explanation of importance of newborn screening and screening

results to parents by the responsible neonatologist

Clinical assessment of cases of positive screen

Initiation of confirmatory testing

Referral of confirmed cases to responsible specialist by

Reporting of confirmed cases to KMGC

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At Newborn Screening Flow Chart at KMGC Unit

Delivery of newborn screening samples by transportation personnel to the

responsible Newborn screening laboratory staff with signing in delivery
book with date and time after ensuring the validity of received samples for
testing

Processing of sample for testing

Result of Screening (notified to Newborn screening Co-ordinator at

KMGC)

Normal Result Highly Abnormal Result Abnormal or Borderline Unsatisfactory Specimen

Result

*Available through Phone call ,email and fax Notification the NSO co- Notification the NSO co-
Newborn screening the NSO co-ordinator at the ordinator at the hospital
ordinator at the hospital
ordered screening by phone
electronic database hospital ordered screening ordered screening call email and fax to collect
at KMGC
another sample

Recall the patient Recall the patient and, do If no repeat screen

Hospital admission if required
following clinical assessment,
immediate further testing and
consultation with specialist
clinical assessment, further reminder to responsible
doctor if no response, to
testing and consultation with
specialist if needed further follow-up

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Appendix 10

Newborn screening order form (KMGC)

Newborn Screening Amount of
Specimen collection Collection
Cards Cards

Newborn Screening Amount of Arabic

Educational Brochures copies
#

Amount of English
copies
#

FAX OR E-MAIL YOUR ORDER Kuwait Medical Genetic Center-Biochemical

TO Screening Laboratory
At Ghanema Al GhanemCenter for Prematures
and Genetics, 2nd floor
Tel.: 24814328-24810563
Fax:24842073
email:neonateQ8@gmail.com

Hospital Name: ____________________________________________________

Address:__________________________________________________________
Contact Personnel Name: ___________________Telephone No___________

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Appendix 11
Newborn screening order form (each
Please provide the number of item you are requesting
Amount Needed
Sterile Lancet with tip
(2.0-2.4 mm)

Amount Needed
Powderless Gloves

Amount Needed
Sterile alcohol Prep

Amount Needed
Sterile Gauze Pad

Amount Needed
Paper Envelops (7×10
inches Brown colour
!

Amount of copies
Referral form for early Needed
discharged babies

Amount of copies
Needed
Parental refusal form

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Appendix 12

List of disorders in the newborn screening

Test
Amino Acidemias :
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Homocystinuria (Cystathionine synthase def.)
Citrullinemias (ASA synthetase deficiency )
Tyrosinemias (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methyl Malonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA-Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase Deficiency (LCHAD)
Trifunctional Protein Deficiency (TEP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deiciency (3HMG)
Galactosemia
Biotinidase Deiciency
Endocrine Disorders :
Congenital Hypthyrodism
Congenital Adrenal Hyperplasia
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Appendix 13

Newborn screening card replacement form

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‫‪Appendix 14‬‬
‫‪Parental refusal for newborn screening‬‬

‫إقرار برفض عمل مسح حديثي الوالدة‬

‫على رفضي لعمل فحص‬ ‫اقر أنا املوقع أدناه ولى أمر الطفل‪/‬‬

‫مسح حديثي الوالدة للطفل املذكور علي مسئوليتي الخاصة وذلك رغم نصح األطباء لي بضرورة وأهمية عمل‬

‫مسح حديثي الوالدة‪.‬‬

‫املقر بما فيه‬

‫االسم‪:‬‬

‫التوقيع‪:‬‬

‫الرقم املدني‪:‬‬

‫الطبيب املسئول‪56:‬‬

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Appendix 15

Newborn Screening sample collection

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Appendix 16

Diagram of invalid specimens

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Appendix 17

Symptoms of screened Diseases

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Appendix 18

Disease summary
Disease Primary Screening Can Treatment
Analyte Prevent…
Measured
Argininosuccinic Acidemia ASA & Citrulline …developmental Avoid fasting , low
(ASA) delay , seizures , coma protein diet , medication
, death
Β-Ketothiolase (BKT) C5OH & C5:1 … brain damage , Avoid fasting , low
Deficency developmental delay , protein and fat diet ,
coma , death medication
Biiotindase Deficency Biotindase … developmental delay Biotin (vitamin)
, hypotonia , seizures , supplementation
skin rash , hair loss ,
death
Citrullinemia Cirtulline … developmental delay Low protein diet , avoid
, seizures , coma , fasting , medication
death
Congenital Adrenal 17-OH … salt-wasting crises , Hormone and mineral
Hyperplasia (CAH) progesterone death replacement
Congenital Hypothyroidism Thyroid … severe and Hormone replacement
hormones irreversible
developmental delay ,
failure to thrive
Galactosemia Galactose -1- … failure to thrive , Galactose restricted diet
phosphate uridyl liver damage , sepsis,
transferase death
(GALT)
Glutaric Acidemia Type I C5DC … developmental delay Avoid fasting , low
(GAI) , spasticity , protein diet , medication
encephalopathy , coma
, death
Homocystinuria Methionine … developmental delay Low methionine diet ,
, lens dislocation , medication , dietary
thrombosis supplementation
3-Hydroxy-3- C5OH & C6DC … brain damage , Avoid fasting , low
methylglutaryl CoA Lyase developmental delay , protein and fat diet ,
Deficiency death carnitine
supplementation

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Disease summary
Disease Primary Screening Can Treatment
Analyte Prevent…
Measured
Isovaleric Acidemia (IVA) C5 … encephalopathy , Avoid fasting , low
neurological damage, protein diet , medication
coma , death
LCHAD Deficiency C16OH … cardiomyopathy , Avoid fasting , diet low
seizures , in long –chain fats
developmental delay ,
coma , death
Maple Syrup Urine Disease Leucine & .. failure to thrive , Low protein diet , avoid
(MSUD) isoleucine seizures , fasting ,
developmental delay ,
coma , death
MCAD Deficiency C8 … seizures , coma , Avoid fasting , aggressive
dudden death treatment of illness
3-Methylcrotonyl-CoA C5OH …failure to thrive , Avoid fasting ,
Carboxylase Deficiency seizure , coma , death medications , low
protein diet ,
supplementation
Methylmalonic Acidemia C3 … failure to thrive , Low protein diet , avoid
(mutase deficiency and encephalopathy , fasting ,, vitamin B12
cobalamin defects) coma , death supplementation
Multiiple Carbosylase C3 & C5OH … failure to thrive , Biotin supplementation
Deficency encephalopathy ,
coma , death
Phenylketonuria Phenylalanine …severe and Phenylalanine restricted
irreversible diet , supplementation
developmental delay
Proprioic Acidemia C3 …encephalopathy , Avoid fasting , low
developmental delay, protein diet , medication
coma, death
Trifunctional protein C16OH ..developmental delay Avoid fasting , diet low
Deficiency , failure to thrive , in long chain fats
cardiomyopathy ,
coma , sudden death

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Disease summary

Tyrosinemia Type I Tyrosine and … liver and kidney Special diet , medication
Succinylacetone damage and sequelae ,
failure to thrive ,
cpagulopathy

VLCAD Deficiency C14:1 … developmental delay Avoid fasting , special diet

and failure to thrive ,
hepatomegaly ,
cardiomyopathy ,
coma , sudden death

Legand

Organic acid Immune deficiencies

disorders

Fatty acid Endocrine disorders

oxidation
disorders

Amion acid
disorders

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Appendix 19
General Information Brochure

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Appendix 20

Algorithms

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Appendix 21

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Ownership
Title:
Newborn Screening Operational Policies & Procedures

Policy Code C-
Policy owner: Kuwait National Newborn NN*-01
Screening Committee

Effective Date:
Written by: Kuwait National Newborn
Screening Committee

Revision Date:
Applies to: Staff in neonatal Unit, PNW**,
LR*** and Newborn Screening Office
Staff in different locations, General
Paediatrician ,Nutritionist,Inborn error
of metabolise specialists and
Endocrinologist

Signature
Approval: Kuwait National Newborn
Screening Committee-Chair Date

Signature
Approvals: The Under-Secretary of
Ministry of Health Date

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Kuwait National Screening Committee

Name Signutures

Dr Mona Abdullah Al-Khawari

Pediatric and Neonate Council-Chair, Committee-Chair

Dr Laila Bastaki
Director of Kuwait Genetics centre , Committe-Co-chair

Eng. Farah Dashti

Director of Equipment Directoriate

Dr Ibraheem Al-Muzairi
Director of Central Laboratory Services

Mr. Ashraf Alghout

Head of Accounting-MOH

Dr Neran Al-Naqeeb
Pediatric and Neonate Chair-Adan Hospital

Dr Rima Al-Sawan
Neonate Chair-Farwanyia Hospital

Dr Nawal Al-Kazimi
Consultant Neonatologist-Maternity Hospital

Dr Nawal Makhseed
Consultant Inborn Error of metabolism -Jahra Hospital

Dr Jassem Khalefa Abbas

Senior Specialist, Sabah Hospital Laboratory

Dr Ahmad Al-Saraf
Head of Kuwait Cancer Center Laboratories

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This Policy published and edited by :

Name Signutures

Dr Mona Abdullah Al-Khawari

Pediatric and Neonate Council-Chair Committee-
Chair

Dr Laila Bastaki
Director of Kuwait Genetics centre Committe-Co-
chair

Dr Neran Al-Naqeeb
Pediatric and Neonate Chair-Adan Hospital

Dr Rima Al-Sawan
Neonate Chair-Farwanyia Hospital

Dr Nawal Al-Kazimi
Consultant Neonatologist-Maternity Hospital

Dr Nawal Makhseed
Consultant Inborn Error of metabolism -Jahra
Hospital

Dr Jassem Khalefa Abbas

Senior Specialist, Sabah Hospital
Laboratory

Dr Ahmad Al-Saraf
Head of Kuwait Cancer Center Laboratories

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Abbreviations:
CLSI: Clinical and Laboratory standard Institute

DBS: Dried Blood Spots

KMGC: Kuwait Medical Genetics Center

LR: Labor Room

MOH: Ministry Of Health

NBS: Newborn Screening

NICU: Newborn Intense Care Unit

NNSP: National Newborn Screening Program

NSL: Newborn Screening Laboratory

NSO: Newborn Screening Office

NSU: Newborn Screening Unit

PNW: Post Natal Wards

TPN: Total Parenteral Nutrition

NSCTL Newborn screening Confirmatory Testing Laboratory at Sabah

hospital

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