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Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?

11 Jun 2024

Abstract excerpt

OBJECTIVE: We aimed to investigate the yield of prenatal exome sequencing (pES) in morphologically normal fetuses. METHOD: This retrospective study analyzed 254 families with morphologically normal fetuses who underwent prenatal trio exome sequencing based on parental request between September 2020 and October 2023. RESULTS: Overall, abnormal findings were detected in 8 families (3.1%, 8/254) by pES. Among these,...

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PMID: 38862389
DOI: 10.1002/pd.6624

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