NewBorn Screening,

an Update

Prepared by:
B I L LY A F R I C A , R M T, M P H

LEARNING OBJECTIVES:
At the end of the lecture, the students must be able
to:
•E n u m e r a t e t h e d i s e a s e s i n c l u d e d i n t h e n e w b o r n
screening panel
•E x p l a i n t h e r i s k o f n o t u n d e r g o i n g t h i s t e s t
•U n d e r s t a n d t h e p r o c e s s o f n e w b o r n s c r e e n i n g
method
 is a public health program
for the EARLY IDENTIFICATION of
disorders that can lead to
mental retardation and death

Performed after 24 hours of life and not later than 3 days

Newborn Screening was introduced in 1996

What disorders are tested in newborn screening?

1. Congenital Hypothyroidism (CH)

2. Congenital Adrenal Hyperplasia (CAH).
3. Phenylketonuria (PKU)
4. Galactosemia (GAL)
5. Glucose-6-Phosphate Dehydrogenase Deficiency
( G6PD Def.)
6. Maple Syrup Urine Disease (MSUD)*

DOH Memo. 2012-0154 (May 15, 2012)

 Inclusion of Maple Syrup Urine Disease MSUD in NBS panel of
disorders
 MSUD appears to be the most common inborn error of
metabolism in the Philippines
Why are these disorders included in the NBS panel?

 Prevalence in the Philippines

 Reversible of complications if treated on time

 Treatment is available
 Now, there are 29 disorders!

NBS was introduced in Philippines in 1996

Disorders
As of December 2017, the incidences of the Screened Confirmed Prevalence
following disorders are:

CH Congenital Hypothyroidism 10,415,695 3979 1:2,618

CAH Congenital Adrenal Hyperplasia 10,415,695 576 1:18,083

PKU Phenylketonuria 10,415,695 84 1:123,996

GAL Galactosemia 10,415,695 128 1:81,373

MSUD Maple Syrup Urine Disease 7,031,276 96 1:73,242

G6PD Def Glucose-6-Phosphate

10,208,668 176510 1:58
Dehydrogenase Deficiency

Fatty Acid Disorders 402,841 15 1:26,856

Organic Acid Disorders 402,841 10 1:40,284

Hemoglobinopathies
HbH Disease/Alpha Thalassemia 402,841 272 1:1,481
Hemoglobin E Disease or Interacting Hb E/Beta
402,841 20 1:20,142
Thalassemia

Beta Thalassemia 402,841 3 1:134,280

Hemoglobin D Disease 402,841 1 1:402,841

 How is it done?

 A few drops of blood are taken from the baby’s heel, blotted on a special
absorbent filter card and then sent to Newborn Screening Center
(NSC).

 Who will collect the sample for ENBS?

 The blood sample for ENBS may be collected by any of the following:
physician, nurse, medical technologist or trained midwife.
 But according to Republic Act no. 9288 – Health Practitioner →
Medical technologist is not included due to they are not involved in
baby delivery
Why is it important to have newborn
screening?

 Most babies with metabolic disorders look

“NORMAL" at birth. By doing NBS, metabolic
disorders may be detected even before clinical signs
and symptoms are present. And as a result of this,
treatment can be given early to prevent
consequences of untreated conditions.
From 5 to 29 disorders! • 14. Medium Chain-Acyl-CoA Dehydrogenase
 Expanded Newborn Screening Deficiency
• 15. Short Acyl-CoA Dehydrogenase Deficiency
 Endocrine Disorders
• 16. Very Long Chain Acyl-CoA FDehydrogenase
 1. Congenital Hypothyroidism Deficiency
 2. Congenital Adrenal Hyperplasia • Organic Acid
 Amino Acid Disorders • 17. 3-Methylcrotnyl CoA Carboxylase Deficiency
 3. homocystinuria
• 18. Glutaric Acidemia Type I
• 19. Isovaleric Acidemia
 4. hypermethionemia/ methionine
• 20. Methylmanolic Acidemia
Adenosine Tranferase Deficiency
• 21. Multiple Carboxylase Deficiency
 5. Maple Syrup Urine Disease • 22. Propionic Acidemia
 6. Phenylketonuria • Urea Cycle Defect
 7. Tyrosinemia Type I • 23. Citrulinemia
 8. Tyrosinemia Type II
• Cystic Fibrosis
• 24. Cystic Fibrosis
 Fatty Acid Disorders
• Hemoglobinopathies
 9. Carnithine Palmioyltransferase I • 25. Alpha Thalasemia
Deficiency • Beta Thalasemia
 10. Carnithine Palioyltransferase II • Hemoglobin C
Deficiency • Hemoglobin D
 11. Carnithine Uptake Deficiency • Hemoglobin E
 12. Glutaric Acidemia Type II
• Biotinase Deficiency
• 26. Biotinidse Deficiency
 13. Long Chain hydroxyacyl-CoA
• Others
Dehydrogenase Deficiency
• 27. Galactosemia
• 28. Glucose-6-Phosphate Dehydrogenase
After Newborn Screening, if a disease was Deficiency
• 29. Tri-functional Protein Deficiency
detected, the baby will undergo Confirmatory
Test. Blood sample is needed
What happens if the child with any of the disorders is
not screened?
DISORDER EFFECT IF NOT SCREENED EFFECT IF SCREENED
SCREENED AND TREATED

CH severe growth and mental retardation NORMAL

(Congenital
Hypothyroidism)

CAH death ALIVE-NORMAL

(Congenital Adrenal
Hyperplasia)

GAL (Galactosemia) death or cataracts ALIVE-NORMAL

PKU (Phenylketonuria) severe mental retardation NORMAL

G6PD Deficiency severe anemia NORMAL

kernicterus

MSUD death ALIVE-NORMAL

Disorder Effect if not Screened Effect if Screened and Managed

Organic Acid Disorders (Sweaty feet) Developmental delay Alive

Breathing problems
Neurologic damage Most will have normal development with
Seizures episodes of metabolic crisis
Coma
Early Death
Endocrine disorders Severe Mental Retardation Normal
Death Alive
Fatty Acid Oxidation Disorder Developmental delay and physical delays Usually healthy in between episodes of
Neurologic impairment metabolic crises
Sudden death
Coma Alive
Seizure
Enlargement of the heart and liver
Muscle weakness
Hemoglobinopathies Painful crises Alive
Anemia
Stroke Reduces the frequency of painful crises
Multi-organ failure
Death May reduce the need for blood
transfusions
Urea Cycle Defect Seizure Alive
Mental retardation and Death Normal Intelligence
Amino Acid Disorders (Brown Sugar Mental Retardation Alive
Odor) Coma and Death from metabolic crisis Normal growth
Normal Intelligence for some, learning
problems to others
NBS Panel of Disorders

Congenital Hypothyroidism (CH)

 CH results from lack or absence of thyroid hormone which is essential for
the physical and mental development of a child. If the disorder is not
detected and hormone replacement is not initiated within 2 weeks, the
baby with CH may suffer from growth and mental retardation.

Congenital Adrenal Hyperplasia (CAH)

 CAH is an endocrine disorder that causes severe salt loss, dehydration and
abnormally high levels of male sex hormones in both boys and girls. If not
detected and treated early, babies with CAH may die within 7-14 days.

Galactosemia (GAL)
 GAL is a condition in which babies are unable to process galactose, the
sugar present in milk. Accumulation of excessive galactose in the body can
cause many problems, including liver damage, brain damage and cataracts.
Phenylketonuria (PKU)
 PKU is a rare condition in which the baby cannot properly use one of the
building blocks of protein called Phenylalanine. Excessive accumulation of
phenylalanine in the blood causes brain damage.

Glucose-6Phosphate Dehydrogenase Deficiency (G6PD def)

 G6PD deficiency is a condition where the body lacks the enzyme called
G6PD. Babies with this deficiency may have hemolytic anemia resulting
from exposure to oxidative substances found in drugs, foods and chemicals
(e.g. aspirin, fava beans).

Maple Syrup Urine Disease (MSUD)

 MSUD is a genetic metabolic disorder resulting from the defective activity
of the enzyme branched chain alpha-keto-acid dehydrogenase complex.
Accumulation of the branched chain amino acids are toxic to the brain.
 What is the cost of newborn screening?
How much is the fee for newborn screening?
P550. The DOH Advisory Committee on Newborn Screening has approved a
maximum allowable fee of P50 for the collection of the sample. Total of 600 pesos.

Expanded newborn screening costs ₱1750 and is included in the Newborn Care
Package (NCP) for PhilHealth members. (29 disorders)

1750 pesos is equivalent to Missing 2 bottles of coke for 1 month, missing call cards
for 4 months, missing 1 pack of cigarrette for 12
Where is newborn screening available?
 Newborn screening is available in Hospitals, Lying-ins, Rural Health Unit,
Health Centers and some private clinics. If babies are delivered at home,
babies may be brought to the nearest institution offering newborn
screening.

When are newborn screening results available?

 Results can be claimed from the health facility where NBS was availed.
Normal NBS Results are available by 7 – 14 working days from the
time samples are received at the NSC.
 Positive NBS results are relayed to the parents immediately by the health
facility. Please ensure that the address and phone number you will provide
to the health facility are correct.
 A NEGATIVE SCREEN MEANS THAT THE NBS RESULT IS NORMAL.
 A positive screen means that the newborn must be brought back to his/her
health practitioner for further testing.
What is Newborn Care Package?
 NCP is a PhilHealth benefit package for essential health services of
the newborn during the first few days of life. It covers essential
newborn care, expanded newborn screening, and hearing screening
tests.

What are the eligibility conditions for newborn to avail of the NCP?

 Newborns are eligible for NCP if ALL of the following are met:
 Either of the parents are eligible to avail of the benefits, (RA
11223 – Universal health act)
 Born in accredited facilities that perform deliveries, such as
hospitals and birthing homes; and
 Services were availed of upon delivery.
Newborn Screening Centers
 The RA 9288 defines the establishment and accreditation of Newborn Screening
Centers (NSC).
 Newborn Screening Center is a facility equipped with a newborn laboratory that
complies with the standards established by the National Institutes of Health (NIH)
Philippines, and provides all required laboratory tests and recall/follow-up
programs for newborns with heritable conditions.

 Presently, there are seven operational NSCs in the country:

 1. Newborn Screening Center - NIH at the University of the Philippines
Manila
 2. Newborn Screening Center - Visayas located at West Visayas State
University Medical Center, Iloilo City
 3. Newborn Screening Center - Mindanao located at the Southern
Philippines Medical Center, Davao City
 4. Newborn Screening Center - Central Luzon in Angeles City, Pampanga
 5. Newborn Screening Center - Southern Luzon in Tanauan City, Batangas
 6. Newborn Screening Center - Northern Luzon in Batac City, Ilocos Norte
 7.Newborn Screening Center - Central Visayas located at Eversley Childs
Sanitarium and General Hospital, Cebu City
G6PD Deficiency Confirmatory Centers
NEWBORN SCREENING
ACT OF 2004
 Republic Act Number 9288

AN ACT PROMULGATING A COMPREHENSIVE

POLICY AND A NATIONAL SYSTEM FOR
ENSURING NEWBORN SCREENING

Consisting of: 5 Articles

19 Sections
Approved by:
Gloria Macapagal-Arroyo,President
Franklin Drilon, Senate President
Jose De Venecia, Jr, Speaker of the House
 Important Keys of the Law:

 Article 1: General Provisions

 Article 2: Definition of Terms
 Article 3: Newborn Screening
 Article 4: Implementation
 Article 5: Final Provision

Short Title: Newborn Screening Act of 2004

Date of Approval: April 7, 2004
 It is the policy of the State to protect and promote
the right to health of the people, including the rights
of children to survival and full and healthy
development as normal individuals.
 →the State shall institutionalize a national newborn screening
system
 →The System shall ensure that every baby born in the
Philippines is offered the opportunity to undergo newborn
screening and thus be spared from heritable conditions that
can lead to mental retardation and death if undetected and
untreated.
Objectives:

1) To ensure that every newborn has access to newborn

screening

2) To establish and integrate a sustainable newborn screening

system within the public health delivery system

3) To ensure that all health practitioners are aware of the

advantages of newborn screening

4) To ensure that parents recognize their responsibility in

promoting their child's right to health and full development
 Obligation to Inform;
Any health practitioner who delivers, or assists in the delivery, of a
newborn in the Philippines shall, prior to delivery, inform the
parents or legal guardian of the newborn of the availability, nature
and benefits of newborn screening.
❖ Healthcare practitioner means physicians, nurses, midwives, nursing
aides and traditional birth attendants.

 Performance of Newborn Screening;

Newborn screening shall be performed after twenty-four (24) hours of
life but not later than three (3) days from complete delivery of the
newborn.
A newborn that must be placed in intensive care in order to ensure
survival may be exempted from the 3-day requirement but must be
tested by 7 days of age.
 Refusal to be Tested;
a parent or legal guardian may refuse testing on the grounds of
religious belief, but shall acknowledge in writing their
understanding that refusal for testing places their newborn at
risk for undiagnosed heritable conditions.

 Licensing and Accreditation;

The DOH and the Philippine Health Insurance Corporation
(PHIC) shall require health institutions to provide newborn
screening services as a condition for licensure or accreditation.
 Lead Agency;
The DOH shall be the lead agency in implementing this Act.
 Establish the Advisory Committee on Newborn Screening

 Coordinate with the Department of the Interior and Local

Government (DILG) for implementation of the newborn
screening program
 Coordinate with the NIH (National Institute for Health)
Newborn Screening Reference Center for the accreditation
of Newborn Screening Centers
 The Committee shall be composed of eight (8) members,
including the Secretary of Health who shall act as Chairman.

(i) the Executive Director of the NIH, who shall act as Vice
Chairperson;
(ii) an Undersecretary of the DILG;
(iii) the Executive Director of the Council for the Welfare of
Children
(iv) the Director of the Newborn Screening Reference Center;
and
(v) three representatives appointed by the Secretary of Health
who shall be a pediatrician, obstetrician, endocrinologist,
family physician, nurse or midwife, from either the public
or private sector.
 The three (3) representatives shall be appointed for a
term of three (3) years, subject to their being
reappointed for additional three (3) years period for
each extension.
 The Committee shall meet at least twice a year. The
NIH shall serve as the Secretariat of the Committee.
 Establishment of a Newborn Screening
Reference Center;
 The NIH shall establish a Newborn Screening Reference
Center, which shall be responsible for the national testing
database and case registries, training, technical assistance and
continuing education for laboratory staff in all Newborn
Screening Centers.
 Quality Assurance;
 The NIH Newborn Screening Reference Center shall be
responsible for drafting and ensuring good laboratory practice
standards for newborn screening centers
 Newborn Screening Fees;
The PHIC shall include cost of newborn screening in its benefits
package.

 at least four percent (4%) to the DOH's Centers for Health

Development
 at least four percent (4%) to the Newborn Screening Centers
for human resource development and equipment maintenance
 (4%) to the NIH Newborn Screening Reference Center
1st week of October – national newborn screening
week
End of Lecture
Thank you for
listening!!
Study Hard
God Bless!