{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:49:16Z","timestamp":1791229756209,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T00:00:00Z","timestamp":1702425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare genetic disorder with a very high mortality rate. The typical symptoms of the disease during pregnancy are oligohydramnios, anhydramnios, and nearly all affected fetuses die after birth or have a stillbirth in late gestation, which can adversely increase maternal risks.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Oligohydramnios\/anhydramnios can make both amniocentesis for diagnostic testing and morphological evaluation via ultrasound more difficult. In cases of oligohydramnios\/anhydramnios suspicious for urinary tract anomalies, amnioinfusion is a meaningful technique that facilitates sampling of amniotic fluid for genetic diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report two cases of fetuses with anhydramnios and invisible urinary bladder. Clinical exome sequencing from amniotic fluid revealed a biparentally inherited homozygous pathogenic nonsense\u00a0<jats:italic>ACE<\/jats:italic>\u00a0variant c.2503G \u232a T [p.Glu853Ter] in proband 1 and a biparentally inherited homozygous pathogenic nonsense <jats:italic>ACE<\/jats:italic>\u00a0variant c.2992C \u232a T [p.Gln998Ter] in proband 2. The prognosis was poor and the patients elected to terminate the pregnancies. Additional post\u2010mortem histopathological examination from the renal tissue of the second fetus showed renal tubular hypoplasia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge for the first time, we describe the prenatal diagnosis of ARRTD in Vietnam, and highlight the benefit of detecting\u00a0<jats:italic>ACE<\/jats:italic>\u00a0variants associated with ARRTD in fetuses with oligohydramnios\/anhydramnios through amnioinfusion and amniocentesis, which improves genotype\u2010phenotype correlations and provides valuable information for reproductive counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6484","type":"journal-article","created":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T16:09:31Z","timestamp":1702483771000},"page":"255-259","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of autosomal recessive renal tubular dysgenesis caused by variants in the <i>ACE<\/i> gene: Two fetuses with anhydramnios"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7746-5976","authenticated-orcid":false,"given":"Sim","family":"Nguyen Thi","sequence":"first","affiliation":[{"name":"Fetal Intervention Center Hanoi Obstetrics and Gynaecology Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anh","family":"Nguyen Duy","sequence":"additional","affiliation":[{"name":"Fetal Intervention Center Hanoi Obstetrics and Gynaecology Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anh","family":"Luong Thi Lan","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics Hanoi Medical University  Hanoi Vietnam"},{"name":"Center of Clinical Genetics Hanoi Medical University Hospital HMU  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diep","family":"Pho Hong","sequence":"additional","affiliation":[{"name":"Department of Pathology Vietnam National Children's Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huong Nguyen","family":"Thu","sequence":"additional","affiliation":[{"name":"Department of Pathology Vietnam National Children's Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bay Luong","family":"Huu","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Dialysis Vietnam National Children's Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anh","family":"Nguyen Duc","sequence":"additional","affiliation":[{"name":"Fetal Intervention Center Hanoi Obstetrics and Gynaecology Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huong Ngo","family":"Thi","sequence":"additional","affiliation":[{"name":"Fetal Intervention Center Hanoi Obstetrics and Gynaecology Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canh Thu Than","family":"Thi","sequence":"additional","affiliation":[{"name":"Fetal Intervention Center Hanoi Obstetrics and Gynaecology Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010010\u20101584\u20100"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21661"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2020.08.011"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2022.01.032"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T19:01:38Z","timestamp":1708110098000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,13]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1002\/pd.6484"],"URL":"https:\/\/doi.org\/10.1002\/pd.6484","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,13]]},"assertion":[{"value":"2023-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}