Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit
Saharia et al.
The finding, in our words
Dried blood spot screening of 3210 neonates in an Eastern Indian province found 10.2% had an inherited disorder, most commonly partial biotinidase deficiency (4.5%) and G6PD deficiency (2.7%), with no sex difference except higher 17-OHP in males; the findings justify national newborn screening to reach all communities.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Frequent dried blood spot sampling detected early changes in beta-cell function more effectively than mixed-meal tolerance tests or urine ratios, supporting its potential as a decentralised monitoring tool for clinical trials.
Enhanced visual and textual guidance significantly improved the quality of dried blood spots self-collected by children and adolescents, increasing the proportion of acceptable cards from 47.6% to 86.6%, which supports the feasibility of home sampling for therapeutic drug monitoring.
This review establishes that microsampling across blood, saliva, urine and stool matrices offers validated workflows and regulatory recognition for human biomonitoring comparable to conventional methods. It finds that these decentralised approaches enhance participant acceptability and enable screening in remote or low-resource settings.
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.
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.