2026 · Endocrinology, diabetes & metabolism · open access
Growth and Neurodevelopmental Outcomes of Children With Congenital Hypothyroidism Identified Through Dried Blood Spot Newborn Screening at a Tertiary Care Hospital in Pakistan
Rehman et al.
The finding, in our words
Among 53,799 babies screened with dried blood spots over five years, forty cases of congenital hypothyroidism were confirmed. At two-year follow-up, 94 per cent of treated children showed normal growth and neurodevelopment, supporting expansion of newborn screening programmes in Pakistan.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
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.
Narawade et al., Indian journal of clinical biochemistry : IJCB (paywalled) · source ↗
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 2025 review maps 28 microsampling devices, from dried spots and volumetric absorptive tips to upper-arm liquid capillary collectors, and names what a laboratory must control before their results are used: the haematocrit effect in non-volumetric dried samples, interstitial fluid from finger milking, volume, haemolysis and transport stability. Regulators on both sides of the Atlantic ask for the same two things, a device the patient can use safely and a sample fit for the test.
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.
Baronio et al., Journal of endocrinological investigation (paywalled) · source ↗
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.
Boros et al., Thyroid : official journal of the American Thyroid Association (paywalled) · source ↗