{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:05:09Z","timestamp":1756425909984,"version":"3.44.0"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"crossref","award":["NO.SZSM202311005"],"award-info":[{"award-number":["NO.SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,4]]},"abstract":"\n Objective<\/jats:title>\n This study aimed to elucidate the fetal ultrasound characteristics, pathology, and molecular genetic etiology of autosomal recessive tubular dysplasia.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This retrospective study examined four fetuses with autosomal recessive tubular dysplasia (ARRTD) from two pregnancies, utilizing ultrasound evaluations and fetal renal pathology. Whole-exome sequencing-copy number variation analysis was employed to identify gene mutations.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n We present for the first time renal vascular resistance in fetuses with ARRTD, characterized by increased renal blood flow resistance and reversed diastolic blood flow, indicating fetal renal insufficiency. This is the first report of a nonsense mutation (C.571C>T) found in the angiotensinogen gene.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n ARRTD disease should be strongly suspected when ultrasound examinations reveal increased renal blood flow resistance, oligohydramnios, and inadequate bladder filling, regardless of the presence of renal abnormalities.<\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/mcd.0000000000000511","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T06:01:40Z","timestamp":1733464900000},"page":"37-43","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations"],"prefix":"10.1097","volume":"34","author":[{"given":"Yang","family":"Liu","sequence":"first","affiliation":[{"name":"Medical Genetic Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caiqun","family":"Luo","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxia","family":"Wu","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiushu","family":"Cao","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2024,12,6]]},"reference":[{"key":"R1-20250828","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1093\/ckj\/sfw057","article-title":"Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.","volume":"9","author":"Al-Hamed","year":"2016","journal-title":"Clin Kidney J"},{"key":"R2-20250828","doi-asserted-by":"crossref","first-page":"14416","DOI":"10.1038\/s41598-021-93878-2","article-title":"Benchmarking germline CNV calling tools from exome sequencing data.","volume":"11","author":"Al-Hamed","year":"2021","journal-title":"Sci 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dysgenesis.","volume":"10","author":"Tseng","year":"2021","journal-title":"Cells"},{"key":"R9-20250828","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13039-017-0333-5","article-title":"Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.","volume":"10","author":"Yao","year":"2017","journal-title":"Mol Cytogenet"},{"key":"R10-20250828","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.jmoldx.2020.05.007","article-title":"Application of whole-exome sequencing in detecting copy number variants in patients with developmental delay and\/or multiple congenital malformations.","volume":"22","author":"Yao","year":"2020","journal-title":"J Mol Diagn"}],"container-title":["Clinical 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