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However, the clinical value of WES in the diagnosis of prenatal isolated congenital anomalies of the kidney and urinary tract (CAKUT) is unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Forty\u2010one fetuses with unexplained isolated CAKUT, normal karyotype and negative chromosomal microarray analysis (CMA) results, underwent WES and were accordingly grouped as (a) Group 1: complex cases with bilateral renal abnormalities (N\u00a0=\u00a019); and (b) Group 2: cases with isolated unilateral fetal renal abnormalities (N\u00a0=\u00a022).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The detection rate of WES for pathogenic variants and incidental variants was 7.32% (3\/41) and 2.4% (1\/41), respectively. The three pathogenic variants were identified in the genes <jats:italic>ACTA2<\/jats:italic> (multisystem smooth muscle dysfunction syndrome), <jats:italic>PKHD1<\/jats:italic> (autosomal recessive form of polycystic kidney disease), and <jats:italic>PKD1<\/jats:italic> (autosomal dominant polycystic kidney disease type 1). The incidental variants were detected in genes <jats:italic>PPM1D<\/jats:italic> (syndromic neurodevelopmental disorders). Furthermore, all above fetuses carrying pathogenic variants came from bilateral kidney anomalies. Thus, the detection rate was 0 for fetuses with unilateral fetal renal <jats:italic>abnormalities<\/jats:italic> and 15.7% (3\/19) for bilateral renal abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This cohort shows that prenatal WES is a supplementary approach for the etiologic diagnosis of unexplained isolated CAKUT with negative CMA, especially for fetuses with bilateral renal abnormality.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23480","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T02:12:29Z","timestamp":1597198349000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole\u2010exome sequencing"],"prefix":"10.1002","volume":"34","author":[{"given":"Xiaoyan","family":"Zhou","sequence":"first","affiliation":[{"name":"State Key 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