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Whole-exome sequencing in the evaluation of fetal structural anomalies: A prospective cohort study

The Lancet Feb 06, 2019

Petrovski S, et al. - Between April 24, 2015, and April 19, 2017, investigators examined DNA samples from 234 eligible trios to estimate the incremental diagnostic yield ie, the added value of whole-exome sequencing (WES) in sequential pregnancies presenting fetal structural anomalies at Columbia University Carmen and John Thain Center for Prenatal Pediatrics (New York, NY, USA). They noticed the clinical relevance of WES in assisting the contemporary management of pregnancy, in those cases of fetal anomalies where karyotype testing and chromosomal microarray failed to resolve the underlying cause of a structural anomaly.
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