Newborn Screening for Congenital Hypothyroidism in India– Is OVERDUE

Abstract

Neonatal screening is an essential preventative public health program, and is the standard practice of care worldwide. India is yet to start any publicly funded program despite this having been established in many countries for over 50 years. The purpose of neonatal screening is to reduce morbidity and mortality in the newborn. Detection must have a clear benefit for the baby and be cost effective when compared to the cost associated with delayed treatment. These criteria are clearly satisfied for screening a baby at birth for congenital hypothyroidism (CHT). Though systematic neonatal screening for congenital hypothyroidism was introduced in the early 1970 in many countries, in India an estimated 10,000 babies are born with congenital hypothyroidism every year, yet there is no screening program for this. We present the details of our study, which reveals that CHT in India has a high incidence and is an URGENT high priority for public screening.

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

“…Five studies provided further details on 195 neonates with dysgenesis. 25 , 30 , 33 , 46 , 74 Agenesis was reported as the commonest etiology (74·2%, 95% CI: 63·3%, 83·8%), followed by ectopy (23·3%, 95% CI: 14·1%, 33·9%) and hypoplasia (3·3%, 95% CI: 1·8%, 9·1%).…”

“…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...…”

“…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.…”

“…Ten studies provided data on the etiology of CH. In the 9 studies that included 355 657 neonates 17 , 22 , 25 , 30 , 33 , 35 , 46 , 64 , 74 born to mothers without thyroid disorders, 419 had confirmed CH, and 376 of them were evaluated for the specific etiology. The pooled estimates of transient hypothyroidism were 14% (95% CI: 10·8%, 17·8%) and permanent hypothyroidism were 86% (95% CI: 82·2%, 89·2%).…”

Thyroid screening in neonates: Indian perspective

“…The incidence of primary hypothyroidism varies from 1 in 1000 to 1 in 3500 live births depending on iodine sufficiency, laboratory methods, screening practice, demographic, geographic & racial/ethnic factors. In India about 10,000 babies are born with congenital hypothyroidism every year [3]. Four percent of Indian population are mentally retarded and 5-15% of sick newborns are thought to have a metabolic problem [4].…”