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

The Lancet Feb 06, 2019

Lord J, et al. - In this prospective cohort study, researchers recruited 2 groups in Birmingham and London from 34 fetal medicine units in England and Scotland between Oct 22, 2014, and June 29, 2017, to estimate the proportion of fetus with structural anomalies with identifiable alternatives in genes linked to developmental disorders. They observed that whole-exome sequencing (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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