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

Lord J, McMullan DJ, Eberhardt RY,Rinck G, Hamilton SJ,Quinlan-Jones E,Prigmore E,Keelagher R, Best SK, Carey GK,Mellis R,Robart S, Berry IR, Chandler KE,Cilliers D,Cresswell L, Edwards SL,Gardiner C,Henderson A, Holden ST,Homfray T,Lester T,Lewis RA,Newbury-Ecob R,Prescott K, Quarrell OW, Ramsden SC,Roberts E,Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG,Westwood P,White H,Parker M,Williams D,Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER

Yearbook of Paediatric Endocrinology（2019）

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Abstract

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 (15.4%), or cardiac anomalies (11.1%). The lowest yield, only 3.2%, was in fetuses with isolated increased nuchal translucency in the first trimester.

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Key words

fetal structural anomalies,prenatal exome,structural anomalies,ultrasonography

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