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Evaluating Dried Blood Spot PCR for Detecting Congenital Cytomegalovirus in Newborns Identified by Targeted Testing

This cohort study assesses the sensitivity and clinical relevance of dried blood spot PCR testing for congenital CMV in infants identified through expanded targeted screening, highlighting diagnostic strengths and limitations for universal

Aug 4, 2026Sign in to read
Diabetes & Endocrinology

LC-MS/MS Redefines Accuracy in Congenital Adrenal Hyperplasia Newborn Screening: Reducing the False-Positive Burden

A prospective study of over 700,000 newborns demonstrates that LC-MS/MS significantly improves the positive predictive value (PPV) of CAH screening compared to traditional RIA, identifying specific steroid ratios that offer 100% PPV and red

Mar 12, 2026
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Genomic Newborn Screening Is Feasible, Highly Acceptable and Clinically Actionable: Lessons from the BabyScreen+ Cohort

BabyScreen+ shows clinically accredited whole‑genome sequencing from dried blood spots can be integrated into newborn screening at scale: 1.6% of 1,000 babies had high‑chance actionable findings, median return 13 days, strong parental accep

Nov 12, 2025Sign in to read
Infectious Diseases

Congenital CMV in Australia: Reported Cases Are a Small Fraction of Estimated Burden — Implications for Screening, Treatment, and Public Health

National APSU surveillance (1999–2024) found 479 definite congenital CMV cases and dramatic under-ascertainment versus expected prevalence; symptomatic infants increasingly receive antivirals. Expanded surveillance, newborn screening, and c

Nov 4, 2025Sign in to read

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