Whole-exome sequencing in the evaluation of fetal structural anomalies: A prospective cohort study
The Lancet Feb 27, 2019
Petrovski S, et al. - In this prospective cohort study, researchers estimated 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). Five hundred seventeen sequentially identified pregnant women found to have fetuses with a structural anomaly were screened for their eligibility for inclusion in the investigation between April 24, 2015, and April 19, 2017. For the analysis of the primary outcome, DNA samples from 234 eligible trios were used. In those cases of fetal anomalies in which karyotype testing and chromosomal microarray failed to solve the underlying cause of a structural anomaly, they noticed the clinical relevance of WES in supporting contemporary pregnancy management.
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