Article

Genetic diagnostic yield of prenatal testing for fetal central nervous system abnormalities: a phenotype-driven study in a large single-center cohort

2026-08-03

Abstract excerpt

To evaluate the diagnostic yield and clinical value of a phenotype-driven genomic testing strategy in fetuses with central nervous system (CNS) abnormalities. In this retrospective single-center study, 966 fetuses with CNS abnormalities detected by prenatal ultrasound and/or fetal magnetic resonance imaging were included. All cases underwent copy number variation sequencing (CNV-seq), while karyotyping and trio ex...

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Literature Corpus work: 08ee3445-c066-5e6a-a502-85d2ea827e6a
DOI: 10.1186/s40246-026-01022-w

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