Current and future perspective of newborn screening: an Indian scenario

Abstract

Background: Newborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage. Method: We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate. Results: In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency. Conclusion: Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on

Universal Implementation of Newborn Screening in India

“…In 2007, the union territory (UT) of Chandigarh in India started a program to study the prevalence of three disorders (CH, CAH, and G6PD deficiency) in the territory [18].…”

“…The conclusions from public studies recommend a universal screening program should include two to four disorders [2,18,24]. Given the large number of births in India per year, and the costs involved, if only one disorder is to be screened, it should be CH.…”

“…The Goa 1.0 NBS Program (2008 to 2013) was initiated based on the desire of the state government to improve neonatal care [ 10 ]. Since health policy in India has an emphasis on IMR and incentivizes reducing it, it was believed that NBS could be a factor in improving this statistic in Goa [ 18 ]. The NBS program screened every baby born in a public hospital (~48,000), about 50% of the births in Goa in the five-year period.…”

Genetics of Congenital Adrenal Hyperplasia

“…45,46 The prevalence in specific populations varies, including 1:10,000 -1:23,000 in the United States and Europe, 47 1:21,000 in Japan, 48 1:27,000 in New Zealand, 49 and 1:6,000 in China 50 and India 51 . NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals.…”

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

“…Recently, efforts for NBS for some of the IEMs have also been started in Bangladesh with the help of international collaborators (25). Conversely, India which has the second largest population in the world has the weakest NBS program which is still at an infancy stage (26). There are few reports from India on the screening of IEMs; which showed congenital hypothyroidism as the most frequent disorder (27–29).…”