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Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

Nephrology Dialysis Transplantation Oct 12, 2017

Lei TY, et al. - This study focused on the utility of whole-exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) but normal findings upon karyotyping and chromosome microarray analysis. Researchers observed that an accurate and early etiology-based diagnosis and improved clinical management can be achieved via WES application to the prenatal diagnostic approach in CAKUT fetuses with or without other anomalies. Moreover, trio sequencing was recommended to expedite interpretation of the results; however, interpretation may nevertheless be compromised by incomplete coverage of all relevant genes.
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