NEONATAL SCREENING

FOR CONGENITAL
HYPOTHYROIDISM
Dr Asmaa Fathy
Lecturer of Family medicine
 INTRODUCTION
 It is one of the most common preventable causes
of mental retardation.

 The pituitary thyroid axis begins function by

midgestation and is mature in the term infant at
delivery.
 INTRODUCTION
 The thyroid hormones are integral to the
development and maturation of CNS as well as
normal growth and development.
1.CNS is thyroid hormone dependent for 2 to
3 years
2.Growth is thyroid hormone dependent during
the first two decades of life
 INTRODUCTION
 If hypothyroidism develops ,undesirable effects
may be demonstrated in certain organ systems,
including the central nervous system and the
skeleton.
 Prevalence in Egypt is about 1:2500
PROTOCOL FOR NEONATAL SCREENING OF
CONGENITAL HYPOTHYROIDISM
Objectives
 To decrease the incidence of mental retardation
caused by congenital hypothyroidism through
early detection of of positive case
 To provide early adequate treatment for the
discovered cases to prevent brain dysfunction
PROTOCOL FOR NEONATAL SCREENING OF
CONGENITAL HYPOTHYROIDISM
 Time of taking the sample
from 3- 7 days after birth
 Method of screening

Dry blood spot on filter paper taken from a prick

heel capillary blood sample
 Level (cutoff point)

Samples are considered positive if the neonatal TSH

(NTSH) concentration is 15uu/ml
The same cutoff point for NTSH applies for full term
as well as preterm babies
PROTOCOL FOR NEONATAL SCREENING OF
CONGENITAL HYPOTHYROIDISM
Borderline cases
 When NTSH is from 15-40uu/ml another dry
blood sample should be taken immediately in the
following screening session
 Cases with a NTSH level above 40uu/ml don’t
need another dry blood sample and should be sent
immediately for confirmation and treatment
PROTOCOL FOR NEONATAL SCREENING OF
CONGENITAL HYPOTHYROIDISM
 Confirmation
Is done by measuring serum TSH and free T4
PROTOCOL FOR NEONATAL SCREENING OF
CONGENITAL HYPOTHYROIDISM
 Babies in the neonatal intensive care unit
The receiving NICU should ask whether newborn
screening has been done if not ,the neonate should
have newborn screening done from the beginning of
3rd to the end of the 7th day of life and this should be
documented in the record and reported to the
transferring hospital
PROTOCOL FOR NEONATAL SCREENING OF
CONGENITAL HYPOTHYROIDISM
 The newborn screening test should be done before
transfusion is given
 Unscreened infants transfused before admission to
NICU should be screened regardless but will need
rescreening 6-8 weeks postransfusion is given
 Very sick babies receiving dopamine should be
rescreened one week after stoppage of drug or
before discharge from the NICU
 SAMPLE CYCLE
 Saturday and Tuesday every week are scheduled
for sample collection in all primary health care
units irrespective of official vacation day

 The trained nurses in the primary health care unit

are responsible for collecting blood samples

 Samples are taken from newborns from the

beginning of the 3rd day of age till the end of the 7th
day of age
 SAMPLE CYCLE
 The nurse fills the data of the infant on the filter
paper before starting collecting the samples.

 The sample is collected by heal puncture method

and receiving the resulting drops of blood on a
special filter paper

 The nurse transfers the filter papers after the end of

the working day to the health district office using
special cariers (rack) and the data are registered in
specified records in the health unit
 SAMPLE CYCLE
 At the health district ,the laboratory technician and
or the nurse supervisor is responsible for sorting
the sample and excluding the wrongly collected or
destroyed ones and inform relevant unit to collect
another sample S/he is also responsible for putting
the good samples in a large envelop after complete
drying (it takes 2-3 hours after taking the
sample)and putting the data sheets of the newborns
with it in addition to regulating the data of all the
samples in a special record for the health district
 SAMPLE CYCLE
 On the same day ,envelops are sent from all
districts to the health directorate
 The samples are transfused to the central
laboratories immediately in the next day(Sunday
and Wednesday each week) by the health
governorate laboratory technician or special
representative who will receive also the written
results of the previous examined samples
 SAMPLE CYCLE
 The central laboratories analyse and examine the
samples and get the results within 24 hours
 The central laboratories immediately inform the
different health governorate with the positive
results by fax or telephone
 The nursing director in the health governorate is
responsible for arrival of the requested sample to
the health governorate in the specified time
 SAMPLE CYCLE
 The health governorate informs the unit with the
results and if positive the child is referred to the
health insurance for performing future
confirmatory investigations and getting paper
treatment and if negative results are recorded and
the parents are informed
 SAMPLE CYCLE
 The doctor in the primary health care unit where a
positive case is discovered should encourage the
mother to attend the regular follow –up visits at the
health insurance clinic
 The doctor also should record the child as being
diagnosed as a case of congenital hypothyroidism
in the column of special case in the child’s own
health card
 PROGNOSIS
 The early the detection and treatment of congenital
hypothyroidism should have the potential to
completely reverse the effects of fetal
hypothyroidism in all but the most severe cases
 We cant relay on clinical symptoms for early
diagnosis
 TREATMENT
 Immediately after obtaining the blood sample for
confirmatory test without waiting for the results
 Treatment of choice

sodium levothyroxine
Tablet should be crushed and mixed with one
spoonful of breast milk, water ,formula but (not
soybean containing formula)
It is given immediately after preparation (morning
undivided dose)half an hour before feeding
 TREATMENT
 The family physician should encourage the mother
to attend the regular follow up visits at the health
insurance clinic
 Recording the child as a case of congenital
hypothyroidism in the column of special cases in
the child’s own health card