12 • PERINATOLOGY Vol 24 • No. 1 • May–Aug 2023 screening 12,407 neonates using cord blood samples. Research done by Gopalakrishnan et al17 from Uttar Pradesh revealed a substantially higher prevalence of 1:1221 neonates. The ICMR data from multicentric research done at the All India Institute of Medical Sciences (AIIMS; New Delhi, India) between 2007 and 2012 after screening > 100,000 neonates throughout India showed an incidence of 1:1172 neonates. According to this research, South India had a higher prevalence with 1:727 neonates.16 Data from Vellore (Tamil Nadu), Hyderabad (Telangana, Centre for DNA Fingerprinting and Diagnostics), and Chandigarh showed an incidence of 1:1200, 1:1700, and 1:340,110 neonates, respectively.18-20 In 2014, Kishore Kumar et al21 from Bengaluru (Karnataka, India) estimated the incidence of CH to be 1042 in a population of 19,800 neonates. Nearly 13,000 neonates with CH are either not detected or are diagnosed too late each year.22 The incidence of CG ranges from 1:30,000 to 1:75,000 in various nations.23 The precise population incidence in India is unknown as no extensive studies were conducted among low-risk populations. Recent research from Uttar Pradesh (India) screened almost 13,500 neonates, but no genuine positive cases of CG were found.17 Another study done in Andhra Pradesh screened 10,300 neonates for CG, but no significant cases were detected because of the small screening pool like that in our study.18 It is estimated that around 87 neonates are born with CG in India each year.24 The clinical data were affected by NBS age at initiation of dietary therapy, the strictness of the galactose-restricted diet, p.Gln188Arg mutation, and galactose-1-phosphate uridylyltransferase (GALT) enzyme activity. Better results were obtained with NBS and diet commencement in the first week of life. A homozygous p.Gln188Arg mutation, ≤ 1% GALT enzyme activity, and stringent galactose restriction were linked to a less-favorable outcome.25 G6PD deficiency with an X-linked inheritance is the most prevalent red cell enzymopathy in humans, with a 0% to 27% frequency. It was first recorded in India over 30 years ago in various caste, ethnic, and linguistic groups. Drug-induced hemolytic anemia, neonatal jaundice, and chronic nonspherocytic hemolytic anemia are the most common clinical symptoms. Individuals with G6PD deficiency have a selective advantage against falciparum malaria. At the molecular level, G6PD Mediterranean variant is the most frequent deficient form in Mediterranean ethnic groups, but G6PD Orissa variant is more common among the Indian tribes. G6PD Kerala–Kalyan is the third most prevalent variant observed in India.26 Studies conducted in various Indian states have indicated incidences ranging from 2% to 27.9%. There is a focus on standard NBS for this condition as it is treatable by avoiding particular medicines and foods.26-28 According to a study done at tertiary health centers in Bengaluru,29 G6PD deficiency is the most frequent problem among the 5 conditions examined (ie, CH, CAH, G6PD deficiency, CG, and PKU). The study showed 99 neonates with confirmed G6PD deficiency of the 41,027 neonates screened, with an incidence of 1:414 live births. Similarly, our study found the highest prevalence of G6PD at 2.27%, with a confirmed diagnosis of G6PD deficiency in 1:132 live births. Our study found 2 G6PD Kerala–Kalyan variants and 1 G6PD Mahidol variant. With about 24 million neonates born in India each year, it is predicted that at least 390,000 children are born with this condition.30 Prior to the advent of kernicterus, parental involvement in diagnosing emerging icterus was considered essential to any screening program.31 All preterm neonates with G6PD deficiency should be vigilantly observed for the development of jaundice.32 Two service models that could be followed for wider implementation of NBS include point of care (POC) and central laboratory (CL). Logistic complexity will be minimal, and findings will be provided rapidly, potentially before the neonate is released in POC. If a neonate is discharged from the hospital (especially the government hospital), it is difficult to trace them for follow-ups, if the neonate tests positive in the screening. If more than 1 disease is being tested, a CL is preferable. While the difficulties of delivering samples to the CL may influence the turnaround time for results, a CL focused on NBS will have more experience and efficiency in the screening process. Research Article Gupta T, et al. The Need for Mandatory Newborn Screening in India
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