Russia Pins Down Duchenne Muscular Dystrophy Rate at 20 per 100,000 Male Births
A national selective screening program across three Russian federal centers estimates Duchenne/Becker muscular dystrophy birth prevalence at 20.3 per 100,000 ...
Tag: Newborn Screening
What Parents and Policymakers Say Shapes Sickle Cell Screening in High-Burden Countries
A systematic review of 18 qualitative studies across nine African countries identifies government funding, stigma, community knowledge-sharing and screening options ...
Mapping where Uganda’s sickle cell services fall short of need
A national spatial analysis of 280 Ugandan health-facility catchments identified the highest-priority zones for strengthening essential sickle cell disease services, ...
Research report: Sickle cell disease in Germany – trends in epidemiology, healthcare utilization and disease burden from 2015 to 2024: a claims data analysis
A German claims data analysis found that documented sickle cell disease prevalence rose from 2.75 to 10.50 per 100,000 between ...
Genomics Moves From Variant Discovery to Precision Diagnosis Across Rare and Common Disease
A sweeping editorial on a 2024–2025 research collection describes how long-read sequencing, newborn screening, population genomics, and functional studies are ...
Systematic review maps PCR accuracy for newborn cytomegalovirus screening
A systematic review of 19 cohorts found favorable diagnostic performance for saliva and dried blood spot PCR screening of congenital ...
Türkiye mothers’ newborn-screening knowledge linked to favourable combined scores
A cross-sectional study of 441 mothers in Türkiye found gaps in newborn-screening knowledge and an association between greater objective knowledge ...
Massive Newborn Screening Effort in China Reveals Hidden Burden of Primary Carnitine Deficiency
A ten-year newborn screening program in Yancheng, China, identified 17 infants with primary carnitine deficiency and showed that SLC22A5 genetic ...
From First Breath to Lifelong Care: How Newborn Screening Is Being Rebuilt Around Every Child
The Society for Pediatric Research's 2026 Mary Ellen Avery Award recognizes Wendy Chung's work building population-scale newborn screening systems, from ...
Hidden Genetic Burden: Three Rare Diseases Shape Child Health in Nunavut
A genomic study of nearly 3,000 Nunavut newborns reveals that three autosomal recessive conditions, including congenital sucrase-isomaltase deficiency at one ...
Brain Bleeds Strike About One in Fifty Newborns with Hemophilia, Meta-Analysis Finds
A new meta-analysis of thirteen studies finds that about 2.1 percent of newborns with hemophilia suffer an intracranial hemorrhage in ...
Hidden Metabolic Diseases Found in Unexplained Child Deaths Through Blood Spot and DNA Analysis
A retrospective Chinese cohort study combined tandem mass spectrometry of archived newborn blood spots with whole-exome sequencing to uncover previously ...
Long-Read Sequencing Uncovers Congenital Adrenal Hyperplasia in Newborns
In a groundbreaking study, researchers have embarked on an unprecedented exploration of congenital adrenal hyperplasia (CAH) through the lens of ...
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