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

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

By MedXY|Aug 4, 2026

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

LC-MS/MS Redefines Accuracy in Congenital Adrenal Hyperplasia Newborn Screening: Reducing the False-Positive Burden
Diabetes & Endocrinology17-hydroxyprogesteroneCongenital Adrenal Hyperplasia

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

By MedXY|Mar 12, 2026

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

Genomic Newborn Screening Is Feasible, Highly Acceptable and Clinically Actionable: Lessons from the BabyScreen+ Cohort
newsimplementationnewborn screening

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

By MedXY|Nov 12, 2025

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

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

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

By MedXY|Nov 4, 2025

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

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