Current and future perspective of newborn screening: an Indian scenario   
Current and future perspective of newborn screening: an Indian scenario
NBS is aimed at timely identification of disorders that affect neonates so that irreversible damage can be prevented. Challenges faced by the NBS program in India can be resolved by starting the program in a planned manner, and focus should be on technical, medical, and logistic support. Nationwide NBS program should be started for CH, as its prevalence is quite high in India. Once the program picks its pace, experience gained by different laboratories can be applied to the development of policies for sustainability of the NBS program. Awareness is the most important component of NBS and must be started in the very first step before development of infrastructure. After successful implementation of the NBS program, focus should be on the extension of screening panel according to the prevalence of various disorders, establishment of new laboratories, management of sick neonates, and development of new therapies.
The NBS program at Chandigarh was started in 2007 with the objective to know the exact prevalence of common metabolic disorders in this region and to develop policies and protocols to initiate NBS in a government setup. After reviewing the literature, a panel of three disorders, namely, CH, CAH, and G6PD deficiency, was prepared. Universal heel prick method was adopted for sample collection between 24 and 48 h of birth after pre-test counseling of the parents on the necessity and benefits of screening. The total number of newborns screened until December 2014 is 25,395 out of 28,272 born at GMCH-32. Coverage of neonates under the NBS program is 89%. The remaining 10% who did not undergo screening include still born (4%), refusal (0.1%), LAMA (left against medical advice) (0.1%), early discharge (2.3%), and NICU admission (3.2%). Incidence of disorders screened in our study is
  • Congenital hypothyroidism – 1:1400
  • Congenital adrenal hyperplasia – 1:6334
  • G6PD deficiency – 1:80 with a higher prevalence in males than in females.
The NBS program at Genetic Centre, GMCH-32, has been evolving over a period of years, and after refinements and re-refinements in sampling collection, sample analysis, and follow-up, we have successfully reduced the false-positive rate. NBS deals with rare disorders, and benefits cannot be easily shown without very large studies; therefore, we are extending the NBS program to other government hospitals of Union Territory, Chandigarh. Along with this, we are planning to add more disorders in the screening panel, namely, galactosemia, phenylketonuria, and biotinidase deficiency.

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