Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

Abstract

Background Congenital Adrenal Hyperplasia (CAH) is a disorder-an ideal candidate to deserve newborn screening. CAH accounts for a significant mortality and morbidity in India, and its awareness among obstetricians should be treated as highly important to prevent the problem.Purpose of the Study It is very important for a country like India as the incidence of CAH is reasonably high justifying screening program. However, there are simple logistics that need to be followed, and the treating physicians need to be aware of, if one has to reduce the number of false positives and recalls. Methods This article takes one through the steps involved in the analysis, interpretation, and reasons for false positives, why the false positives, so that unnecessary calls to parents for repeat sampling are minimized along with the emphasis and the need for the routine screening for CAH. Results/Conclusion The results of samples can vary depending on the gestational age of the baby, weight of the baby, sampling time, and the knowledge of these data to the treating Obstetrician and Pediatrician is of paramount importance in preventing repeat samples and frustration for the family and the people involved.

Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme

“…Newborn screening for CAH began with the development of a radioimmunoassay by Pang et al, 1977 [ 10 ] measuring 17 α-hydroxyprogesterone(17OHP) using blood on microfilter paper. Since then, worldwide CAH screening or pilot studies have ensued [ 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. Newborn screening for CAH is aimed at identifying newborns with SWCAH promptly to prevent a life threatening adrenal crisis, thus reducing morbidity and mortality in affected individuals [ 23 ].…”

The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation

“…In India, absence of neonatal screening, CAH diagnosis is missed in male gender and recognized only in the later part of life when signs of adrenal insufficiency like hyperpigmentation, hypotension, or precocious pseudo puberty appear. [ 12 13 ]…”

CAH Newborn Screening in India: Challenges and Opportunities

“…The study showed marked regional differences, with the prevalence being 1 in 2036 in Chennai, 1 in 7608 in Delhi and 1 in 9983 in Mumbai [ 23 ]. Other recent studies from India, found the incidence of CAH to be 1 in 2800 in South India [ 24 ] and 1:6334 in North India [ 4 ]. The differences in incidence of CAH reported from India may be because of the variations in technique used, different cut-offs, different disorder definition and/or different populations screened.…”