Article

First-Tier Genomic Newborn Screening at Population Scale: End-of-Study Outcomes and the Dominant Cardiomyopathy Reporting Dilemma – The BabyDetect Experience

2026-07-01

Abstract excerpt

<title>Abstract</title> <p>Genomic newborn screening (gNBS) may complement conventional newborn screening by identifying treatable genetic disorders before symptom onset. However, implementation at the population scale raises unresolved questions regarding variant interpretation, reporting thresholds and management of low-penetrance findings. BabyDetect was a prospective, population-based first-tier gNBS study co...

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Literature Corpus work: 3c25210f-fd02-5b53-a584-dde901a629f1
DOI: 10.21203/rs.3.rs-10153799/v1

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