Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India—Three Years Experience

Abstract

Purpose Newborn screening is the need of the hour in a developing country like India as there is paucity of data from studies conducted in government hospitals with large sample size. The purpose of the study is to estimate incidence rate and recall rates for five conditions screened in the neonatal period namely congenital hypothyroidism, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, galactosemia and phenyl ketonuria (PKU). Methods The study was conducted at VaniVilas Hospital attached to Bangalore Medical College and Research Institute. A retrospective analysis of the results of newborn screening programme during a 3-year period between January 2016 and December 2018 was done. There were 47 623 livebirths during this period out of which 41 027 babies were screened (coverage—86% of total livebirths). Heelprick samples after 48 h of life and prior to discharge were analysed by quantitative assessment. Neonates having positive screening results were recalled by telephonic call for repeat screening and confirmatory tests. Results G6PD deficiency was the most common disorder with an incidence of 1:414, followed by congenital hypothyroidism and Congenital Adrenal Hyperplasia with an incidence of 1:2735 and 1:4102, respectively. Galactosemia and PKU were found to be rare in our population. The overall average recall rate was 0.6% which meant that 24 normal newborns were recalled for testing for one confirmed case. The recall rate was relatively higher for galactosemia and G6PD deficiency which was at 0.25% each compared to the other conditions where it was below 0.05%. Conclusion The results of the study emphasize the need for universal newborn screening especially in all government hospitals with large birth cohorts.

Congenital hypothyroidism in India: A systematic review and meta-analysis of prevalence, screen positivity rates, and etiology

“…Seventy-nine studies were included in the systematic review, and 70 studies in the meta-analysis. 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 The flow...…”

“…Timing: 24-48 h; NICU admission- beyond 7 days age; premature- close to 7 days age; immediately before any transfusion for sick neonates. TSH-based 18 Unclear 13 376 15 Kommalur 2019 25 Postnatal filter paper between 48 h - discharge TSH-based 20 Unclear 41 027 16 Verma P 2019 26 Postnatal filter paper after 24 h of birth or at discharge, whichever was later. Preterm- not later than 36 completed weeks of gestation or 14 days of life, whichever was later.…”

“…The prevalence of CH was estimated separately for neonates in endemic and non-endemic regions, neonates born to mothers with thyroid disease and preterm neonates. Meta-analysis of 54 studies that included term neonates from non-endemic regions (55 datasets, and 819 559 neonates) 11 , 12 , 13 , 14 , 17 , 19 , 20 , 21 , 22 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 55 , 56 , 57 , 62 , 63 , 64 , 65 , 67 , 68 , 69 , 71 , 72 , 73 , 74 , 75 , 76 , 80 gave a pooled prevalence of 0·97 per 1 000 neonates (95% confidence interval/CI: 0·9 to 1·04), which is about 1 in 1 031 neonates. The I 2 statistic was 92%, while the variance in pooled estimates was narrow.…”

Prevalence of Congenital Hypothyroidism in India: Mapping and Critical Appraisal

“…Hence, we used data only from studies with a sample size ≥9500 in whom the criteria to diagnose CH were clear and appropriate. [ 3 4 5 6 7 8 9 10 11 12 13 14 15 16 ]…”

“…[ 5 ] A study from a medical institution of the government sector in Bengaluru also reported a relatively lower prevalence (1:2735). [ 6 ] However, another study from a tertiary health care center of the private sector in Bengaluru that used a lower TSH cut-off (12 μIU/ml) to define screen positivity reported a relatively higher prevalence (1: 852). [ 7 ]…”