{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T03:56:41Z","timestamp":1773028601711,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T00:00:00Z","timestamp":1731369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T00:00:00Z","timestamp":1731369600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a retrospective study of 14 cases with BRA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis. Genetic investigations were performed by chromosomal microarray analysis and trio exome sequencing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pathogenic and likely pathogenic variants in three genes (\n                      <jats:italic>FRAS1<\/jats:italic>\n                      ,\n                      <jats:italic>PBX1<\/jats:italic>\n                      , and\n                      <jats:italic>KMT2D<\/jats:italic>\n                      ) were detected by exome sequencing in 6 (6\/14) cases. One gene (\n                      <jats:italic>FRAS1<\/jats:italic>\n                      ) is inherited in an autosomal recessive (AR) manner and two (\n                      <jats:italic>PBX1<\/jats:italic>\n                      \u00a0and\n                      <jats:italic>KMT2D<\/jats:italic>\n                      ) are autosomal dominant (AD); both AD variants were de novo. Only the\n                      <jats:italic>FRAS1<\/jats:italic>\n                      variants were detected in more than one case. Variants in five cases were believed to be the cause of BRA, and the variants detected in\n                      <jats:italic>PBX1<\/jats:italic>\n                      and\n                      <jats:italic>KMT2D<\/jats:italic>\n                      were likely the cause of fetal phenotype suggesting that the two genes can present with BRA. The yield of exome sequencing in our series is one third (4\/12) after excluding two families with a previous family history.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Fraser syndrome, resulting from\n                      <jats:italic>FRAS1<\/jats:italic>\n                      variants, is the most common cause of genetic BRA identified in this specific cohort. The determination of genetic etiology will be valuable in the possible choices for pregnancy management and risk assessment of recurrence in future pregnancies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6705","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T07:24:05Z","timestamp":1731482645000},"page":"218-222","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A\u00a0Single Referral Center Experience"],"prefix":"10.1002","volume":"45","author":[{"given":"Qiu\u2010Xia","family":"Yu","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi\u2010Qing","family":"Xiao","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun\u2010Jing","family":"Wen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4583-6800","authenticated-orcid":false,"given":"Dong\u2010Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/ogx.0000000000000670"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.013"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.026"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/asn.2020040478"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1681\/asn.2020121762"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104376"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14128"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40620\u2010020\u201000795\u20100"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24324"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfx031"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23480"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404\u2010023\u201007165\u20108"},{"issue":"2","key":"e_1_2_10_14_1","first-page":"S124","article-title":"Fraser Syndrome","volume":"25","author":"Saleem A. 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