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Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions

1 Jan 2025

Abstract excerpt

BACKGROUND: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population. METHODS: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 39749519
DOI: 10.1093/clinchem/hvae189

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