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

The Lancet Feb 27, 2019

Lord J, et al. - In this prospective cohort study, researchers assessed the proportion of fetuses with structural abnormalities that had identifiable variants in genes correlated with developmental disorders when evaluated with whole-exome sequencing (WES). In England and Scotland, two groups in Birmingham and London recruited patients from 34 fetal medicine units. Between October 22, 2014, and June 29 2017, the cohort was recruited and clinical data were collected until March 31, 2018. Investigators discovered that WES helped in the genetic diagnosis of fetal structural anomalies. It also helped in perfect predictions of fetal prognosis and risk of recurrence in future pregnancies.
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