{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:17:33Z","timestamp":1790457453510,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T00:00:00Z","timestamp":1594771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006143","name":"Department of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006143","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2017A030313460"],"award-info":[{"award-number":["2017A030313460"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2019A1515012034"],"award-info":[{"award-number":["2019A1515012034"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to investigate the value of whole\u2010exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with or without other structural anomalies but with normal findings upon karyotyping and chromosome microarray analysis (CMA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cases with CAKUT with or without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping or CMA results were excluded. We performed WES on DNA samples from eligible fetus\u2010parental trios and identified diagnostic genetic variants based on ultrasonographic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 163 eligible fetus\u2010parental trios were successfully analyzed by WES. We found 26 likely pathogenic or pathogenic variants in 18 genes from 20 fetuses, with a total proportion of diagnostic genetic variants of 12.3% (20\/163). Genetic variants were significantly more frequently detected in fetuses with multisystem anomalies (27.0%, 10\/37), enlarged kidney\/echogenic kidney (20%, 4\/20), and multicystic dysplastic kidney (11.1%, 4\/36). Pregnancy outcome data showed that 88 (94.6%, 88\/93) of the surviving cases with negative WES results had a good prognosis in early childhood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study is the largest to use WES prenatally for CAKUT and shows that WES can be used diagnostically to define the molecular defects that underlie unexplained CAKUT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5737","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T07:54:47Z","timestamp":1590047687000},"page":"1290-1299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Whole\u2010exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3423-0755","authenticated-orcid":false,"given":"Ting\u2010Ying","family":"Lei","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[{"name":"Eugenic and Perinatal Institute, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru","family":"Li","sequence":"additional","affiliation":[{"name":"Eugenic and Perinatal Institute, Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou 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