Article

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

2019-09-12

Abstract excerpt

This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation was identified in 8.5% of fetuses, and more commonly in those fetuses with multisystem anomalies (15.4%), skeletal anomalies...

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Literature Corpus work: 5b936d0c-02ad-5a86-8a9b-20214d33ebb4
DOI: 10.1530/ey.16.14.14

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