1. New born screening:
Need of the hour in India.
Indian journal of pediatrics(jan 2015)
I.C. VERMA
SUNITHA BIJARNIA .
GEETHA JHINGAN.
SIR GANGA RAM HOSPITAL NEW DELHI

2.  New born screening is a public health program that aims to
prevent catastrophic health consequences through early
detection diagnosis and treatment of disorders.
It has six components
 1)Education of the parents /public regarding the purpose
and benefits of NBS.
 2)Screening of the babies which involves collection of
samples its submission to central laboratory ,testing of the
sample and storage of the filter paper specimen.
 3)Diagnosis consists of assessment of the results by persons
with appropriate training and preparation of the reports.

3. 4)Conveying the report to the parents or the doctors by
telephone if abnormal or by mail if normal ,in case of
positive results, provide counseling to the family.
5)Fallow up if results are positive comprising recall of
the patient, repeating the test and confirming the
diagnosis by biochemical or DNA analysis.
 6)Management comprises treatment ,periodic
examination and monitoring and evaluation of the
program through quality assurance outcome and cost
effectiveness.

4.  Wilson and Jungner principals on screening.(1968)
1)The condition sought should be an important health problem.
2)There should be an accepted treatment for patients with recognized disease.
3)Facilities for diagnosis and treatment should be available.
4)There should be recognizable latent or early symptomatic stage.
5)There should be suitable test or examination.
6)The test should be acceptable to population.
7) The natural history of condition ,development from latent declared disease
should be adequately understood.
8)There should be agreed policy on whom to treat as patients.
9)The cost of case finding should be economical.
10)Case finding should be continuing process and not a once and for all projects

5.  Modification by classic criteria Andermann etal:
 1)the screening program should respond to recognized need.
 2) the objective of screening should be defined at the outset.
 3)there should be defined target population.
 4)there should be scientific evidence of screening program
effectiveness.
 5)the program should integrate education testing clinical
services and management.
 6)there should be quality assurance with mechanism to
minimize potential risk from screnning.
 7)the program should ensure informed choice confidentiality
and respect for autonomy.
 8)the program should promote equality and access to screening
for entire target population.
 9)program evaluation should be planned from the outset.
 10)the overall benefits of screening should outweigh the harm.

6. International status
 At new born screening symposium held in Atlanta Georgia
USA Hoffmann etal it was suggested that the screening
program must be adapted depending on the ethnic and
genetic background ,customs social characteristics,
medical environment and economic status of a country.
 New born screening is carried out in all western countries
and large number of countries in Asia .
 In USA screening dates back to 1960 started with diagnosis
of phenylketonuria than gradually congenital hypo
thyroidism, sickle cell disease ,congenital adrenal
hyperplasia ,cystic fibrosis ,maple syrup urine disease,
Homocystinuria galactosemia are included.


7. Core panel for screening
 Screening depends on whether its pilot or definite study.
 For pilot study epidemiological information on the frequency of
various disorder using multiple technologies to get maximum
information in shortest possible time, its help to decide what
disorder to be included in national program.
 In USA core panel screen 29 disorder 9 organic aciduria, 5 fatty
acid oxidation defects 6 amino acid disorder 3 hemoglobin
disorder and 6 other CH, CAH, biotinidase deficiency
,galactosemia, cystic fibrosis and hearing loss.
 In UK the core panel consist of only phenylketonuria,CH, cystic
fibrosis sickle cell disease and medium chain acyl coA
dehydrogenase deficiency.

8. Status of NBS in India
 ICMR initiated a task force on inborn metabolic disorder in
5 centre in India Delhi, Chennai ,Mumbai, Hyderabad ,and
Kolkata.
 The study lasted from 2007 to 2012,the over all enroll were
103849 for CH and 103712 for CAH. the incidence was 1 in
1130 overall. 1 in 727 in Chennai to 1 in 1528 in Mumbai . The
incidence of CAH overall was 1 in 5762 newborn ,varying 1 in
2036 in Chennai to 1 in 9983 in Mumbai.
 ICMR multicentre study of 708 high risk infant there were 16
case of urea cycle disorder, 16 of MSUD 24 of methylmalonic
aciduria and 12 prop ionic acidemia and 19 glutaric acidemia.
Incidence of CH is higher in India than in west.

9. Introduction of NBS in our country.
 The WHO has often recommended genetic services to
be introduced in countries with IMR less than 50.
 Indian academy of pediatrics and national neonatal
forum have a major role to play to advocate for NBS and
success of program.
 A national wide program called Rashstriya Bal
swasthya karyakram to screen for condition like
hypothyrodisim,mental retardation speech and hearing
disabilities and treat them.
 Goa was first national state to introduce this program in
june 2008, however discontinued in July 2013.

10.  Specimen collection : low humidity and low temperature
required for transportation and storage.
 Cord blood T4 TSH are reliable and comparable to analysis
of blood obtained by heel prick.
 Various methods like RIA,ELISA fluorescence based study
thin layer chromatography for urine are used for screening.
 On confirm of diagnosis, need to prevent morbidity
mortality and harmful sequele, for treatment trained
metabolic pediatrician are essential.
 Ideal age for NBS sample is taken between 2 and 7 day,
results to be taken by 2 wk of age and specific therapy or
diet before morbidity sets in.

11. Disorders to be screened
 The NNF recommends that NBS for three disorder
Congenital hypothyroidism, congenital adrenal hyperplasia g6pd
deficiency, the extended new born screening using TMS for 30-40
inherited IEM can be offered to well to do especially in urban setting.
 All diagnosis technique like biochemical tests ,tandem mass
spectometry GC-MS or LC-MS in the urine and high performance
liquid chromatograpy for amino acids analysis for sick babies
 Two stage screening for hearing loss by otoacoustic emission and
then by automated auditory brain stem response.
 Antenatal ultrasonography and postnatal clinical examination are
current standard methods of screening for congenital heart disease.

12. conclusions
 All hospitals in urban area in Indian should initiate NBS for
CH,CAH and G6PD deficiency.
 Facilities for confirmation of diagnosis ,fallow up and treatment
should be established.
 For Quality assurance and improvement of NBS ,Indian
laboratory providing testing services for new born should get
national accreditation(NABL) for quality assurance and
participate in external quality assurance (EQAS)program
 For national program, screening for CH should be established.
 Need to increase the number of physicians trained in metabolic
disorder in India before widespread NBS using tandem mass
spectometry is resorted .