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Advances in Prenatal Cell‐Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation

25 Jan 2025

Abstract excerpt

Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic...

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Cancer Genomics and Diagnostics
Fetal and Pediatric Neurological Disorders
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39865331
DOI: 10.1002/pd.6752

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