Article

Genomic newborn screening: feasibility, acceptability and clinical outcomes

2025-05-27

Abstract excerpt

<title>Abstract</title> <p>Incorporating genomic sequencing into newborn screening (NBS) will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The BabyScreen + study screened 1,000 newborns for variants in 605 genes associated with early-onset, severe, treatable conditions using whole genome sequencing performed on dried blood spot cards. Sixteen infants (1.6%) wer...

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Literature Corpus work: 49013f54-5a78-5e0c-b3bc-884b2e352a38
DOI: 10.21203/rs.3.rs-6616246/v1

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