2026 · Indian journal of clinical biochemistry : IJCB · paywalled
Birth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population
Narawade et al.
The finding, in our words
Among 8007 neonates screened using dried blood spots, the study identified prevalence rates for congenital hypothyroidism (1:2002), congenital adrenal hyperplasia (1:2002) and G6PD deficiency (1:900), with abnormal results confirmed by venous sampling. This demonstrates the practical utility of microsampling for decentralised newborn screening and subsequent clinical management.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Analysis of dried blood spots from 813 newborns demonstrated that extremely preterm infants have markedly elevated corticosterone and 17-hydroxyprogesterone, with the latter showing the strongest inverse correlation with gestational age, indicating these precursors better reflect adrenal immaturity than cortisol alone. This validates DBS as a practical tool for guiding postnatal steroid therapy in preterm infants by helping clinicians distinguish physiological adrenal immaturity from true insufficiency.
A newborn screening programme using dried blood spots detected classic 21-hydroxylase deficiency in 1 in 17,699 infants, with second-tier LC-MS/MS testing achieving a positive predictive value of 4.3. However, 23% of cases became symptomatic before results were reported, highlighting that timeliness remains a critical challenge for decentralised diagnostics.
In term newborns, measuring thyroid-stimulating hormone from dried blood spots before 72 hours of life is as accurate as later sampling and enables treatment of positive cases around 6 days instead of 8.5 days, without increasing false positives; however, home sampling delays laboratory receipt and yields more unusable samples than hospital sampling.
The study established reference intervals for TSH in dried blood spots for both adults and neonates and defined a quantitative relationship between DBS and serum TSH levels. This allows DBS to be used as a viable, patient-centric alternative to venepuncture for thyroid function monitoring, particularly where venous sampling is difficult.
Dried capillary blood spots taken by heel prick are the established standard for neonatal congenital hypothyroidism screening, with abnormal results requiring immediate confirmatory venous testing. Prompt levothyroxine treatment based on early microsampling prevents mental retardation, as IQ correlates inversely with age at diagnosis.