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Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting

25 Jan 2024

Abstract excerpt

OBJECTIVE: To investigate the diagnostic yield of trio whole-genome sequencing (WGS) in fetuses with various congenital malformations referred to a tertiary center for prenatal diagnosis. METHODS: In this prospective study, 50 pregnancies with different congenital malformations, negative for trisomies and causative copy-number variants, were analyzed further with fetal-parental trio WGS analysis. Parents were...

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PMID: 38268232
DOI: 10.1002/uog.27592

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