Newborn Screening

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  Things to be Known

Newborn Screening is the process by which infants are screened shortly after birth for a list of disorder (including genetic and metabolic conditions e.g. G6PD,Thalassemia , Hypothyroidism & many more) that can affect a baby’s normal physical and mental development.

  Purpose : To Enable early detection before any symtoms appear

 To enable early treatment to improve health.

 To reduce anxiety caused by uncertainty over symptoms before clinical diagnosis is made.

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What if the baby is screened positive ?

if the baby is screened positive , another sample (at no additional cost) would be collected for confirmatory testing.on confirmed diagnosis, the consulting doctor in co-operation with expert team at the Lab would help determine the next course of action. Support in genetic counseling, referral to a subject expert and treatment support would be extended.

What sample are to be collected ?

Newborn Screening is a safe & simple procedure.It requires a few blood spots by taking a drop of blood via a simple heel-prick as the parent enrolls.

As a Rule of Thumb,Prevention is batter than cure,so is early Detection is batter than Late Detection

if you want your baby to underage Newborn Genetic Screening Contact your Hospital for further assistance

CH IQ outcome and age at starting treatment.

Age IQ Range
0-3 Months 89 64-117
3-6 Months 71 35-96
More then 6 Months 54 25-80

Cord blood

Cord blood/ Sample<48 hours Problems of physiological TSH surge High Recall rates.

Useful if mother TRAB+ or on antithyroid Rx.

Dried blood spot-48-62 hours ideal sample.

For LBW,VLBW,sick reonates Day 7 onwards- Due to late maturation of Hypothalamus-Pituitary-Thyroid axis.

Heel prick

Day 3 blood(48-72 hours)

– Advantage:

– Collection in filter paper through single heel prick

– Easy to transport to distant labs

– ideal time for screening for CH,IEMs

– Disadvantage:

– Early discharge

– Invasive

– Availability of personnel- for outreach , sampling

– Availability of filter paper,transport

– Later sample (>7 days) : May delay treatment of CAH,CH,galactosemias,other IEMs

Urine sample


Can be dried on filter paper & transported

Limited number of conditions screened

Primarily organic acidemias by GCMS

Lower sensitivity and specificity

Limited experience

Not a preferred sample

How are Diseases selected for screening ?

– Wilson and Jungner Criteria (1968) for offering screening:

– The Condition sought should be an important health problem.

– There should be an accepted treatment for patients with recognized disease

– Facilities for diagnosis and treatment should be available.

– There should be a recognizable latest or early symptomatic stage.

– There should be a suitable test or examination.

– The test should be acceptable to the population.

– The natural history of the condition adequately understood.

– Cost – effectiveness

Advantages and Disadvantages of new bore screening primary TSH and primary T4.


Detects Primary HT, Central HT, TBG deficiency


Can miss cases with low normal T4 levels with late TSH surge

Less widely used in screening programs

Assays not as easily available esp.FT4

Primary TSH


Will Studied, widely used

Age dependent TSH values available

Widely available assays


Does not detect central hypothyroidism, TBG deficiency, Cases with delayed TSH elevation

Risks of NBS

Parental anxiety (false positives)

Missed Diagnosis (false negatives)

The Right “not to know”

Unanticipated outcomes

Labeling – Diagnosis of benign conditions

Three panels are available in our hospital for new born screening.

Heel Prick Condition

Sr No Conditions
1 G6PD deficiency
2 Congenital Hypothyroidism
3 Cystic Fibrosis
4 Phenylketonuria(PKU)
5 Galactosemia
6 Biotinidase deficiency
7 Congenital adrenal hyperplasia

Heel Prick Condition

Sr No Conditions
1 Variant hemoglobinopathies including Hb E
2 Sicle Cell Disease
3 Congenital adrenal hyperplasia
4 Phenylketonuria(PKU)
5 Galactosemia
6 Biotinidase deficiency
7 Cystic Fibrosis
8 Sickle Cell Anaemia
9 Congenital hyperplasia
10 Beta thalassemia
11 G6PD deficiency

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