{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:23:49Z","timestamp":1757615029699,"version":"3.44.0"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","funder":[{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"crossref","award":["SZSM202311005"],"award-info":[{"award-number":["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":[[2025,10]]},"abstract":"<jats:sec>\n            <jats:title>Objective<\/jats:title>\n            <jats:p>\n                                 <jats:italic toggle=\"yes\">MAGED2<\/jats:italic>-related Bartter syndrome is a rare X-linked disorder characterized by severe fetal polyuria, polyhydramnios, preterm birth, and increased perinatal morbidity. This study evaluates the efficacy of amnioreduction in prolonging gestation and improving outcomes in affected pregnancies.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We analyzed three cases of severe polyhydramnios detected via prenatal ultrasound. Whole-exome sequencing (WES) was performed to identify causative mutations. Two cases underwent therapeutic amnioreduction, while the third received expectant management. Clinical outcomes, including gestational age at delivery and neonatal complications, were compared.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>WES confirmed hemizygous <jats:italic toggle=\"yes\">MAGED2<\/jats:italic> mutations in all fetuses. The two cases treated with amnioreduction were delivered at 35 weeks 2 days and 37 weeks 1 day, respectively, with no severe neonatal complications. In contrast, the untreated case was delivered prematurely at 32 weeks and 6 days, resulting in transient brain damage requiring postnatal rehabilitation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Amnioreduction mitigates polyhydramnios-driven preterm birth in <jats:italic toggle=\"yes\">MAGED2<\/jats:italic>-related Bartter syndrome, enabling safer gestational prolongation. Integration of WES for rapid genetic diagnosis and multidisciplinary care optimizes prenatal management. These findings support amnioreduction as a critical intervention for this high-risk population, emphasizing early genetic testing, and proactive fetal therapy.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/mcd.0000000000000536","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T07:00:34Z","timestamp":1751612434000},"page":"117-121","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Amnioreduction as a therapeutic strategy for MAGED2-related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management"],"prefix":"10.1097","volume":"34","author":[{"given":"Xiaoxia","family":"Wu","sequence":"first","affiliation":[{"name":"Maternal-Fetal Medicine Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caiqun","family":"Luo","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiushu","family":"Cao","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[{"name":"Maternal-Fetal Medicine Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"key":"R1-20250905","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","article-title":"Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.","volume":"33","author":"Bartter","year":"1962","journal-title":"Am J Med"},{"key":"R2-20250905","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1056\/NEJMoa1507629","article-title":"Polyhydramnios, transient antenatal Bartter\u2019s syndrome, and MAGED2 mutations.","volume":"374","author":"Laghmani","year":"2016","journal-title":"N Engl J Med"},{"key":"R3-20250905","doi-asserted-by":"crossref","first-page":"242","DOI":"10.2215\/CJN.05670517","article-title":"Prevalence of novel MAGED2 mutations in antenatal Bartter syndrome.","volume":"13","author":"Legrand","year":"2018","journal-title":"Clin J Am Soc Nephrol"},{"key":"R4-20250905","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1097\/01.ogx.0000290349.58707.e0","article-title":"A review of idiopathic hydramnios and pregnancy outcomes.","volume":"62","author":"Magann","year":"2007","journal-title":"Obstet Gynecol Surv"},{"key":"R5-20250905","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.3390\/medicina59091638","article-title":"Bartter syndrome: a systematic review of case reports and case series.","volume":"59","author":"Qasba","year":"2023","journal-title":"Medicina (Kaunas)"},{"key":"R6-20250905","doi-asserted-by":"crossref","first-page":"3424","DOI":"10.3390\/cells11213424","article-title":"Reciprocal regulation of MAGED2 and HIF-1\u03b1 augments their expression under hypoxia: role of cAMP and PKA Type II.","volume":"11","author":"Seaayfan","year":"2022","journal-title":"Cells"},{"key":"R7-20250905","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.3390\/cells11162546","article-title":"Maged2 is required under hypoxia for cAMP signaling by inhibiting MDM2-dependent endocytosis of G-Alpha-S.","volume":"11","author":"Seaayfan","year":"2022","journal-title":"Cells"},{"key":"R8-20250905","doi-asserted-by":"crossref","first-page":"101192","DOI":"10.1016\/j.ajogmf.2023.101192","article-title":"Amnioreduction vs expectant management in pregnancies with moderate to severe polyhydramnios.","volume":"5","author":"Soni","year":"2023","journal-title":"Am J Obstet Gynecol MFM"},{"key":"R9-20250905","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/pd.6508","article-title":"Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.","volume":"44","author":"Walsh","year":"2024","journal-title":"Prenat Diagn"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000536","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T12:02:22Z","timestamp":1757073742000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,7]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000536","relation":{},"ISSN":["0962-8827","1473-5717"],"issn-type":[{"type":"print","value":"0962-8827"},{"type":"electronic","value":"1473-5717"}],"subject":[],"published":{"date-parts":[[2025,7,7]]}}}