{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T01:43:29Z","timestamp":1784684609273,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T00:00:00Z","timestamp":1703894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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:label\/><jats:p>A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the <jats:italic>X<\/jats:italic>\u2010linked <jats:italic>MAGED2<\/jats:italic> variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild\u2010to\u2010moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25\u00a0weeks with fetal demise. Whole exome sequencing of the amniotic fluid sample resulted after the pregnancy loss and revealed a c.1337G&gt;A <jats:italic>MAGED2<\/jats:italic> variant that was considered diagnostically. The subsequent pregnancy was confirmed by chorionic villi sampling to also be affected by this variant. The pregnancy was managed with frequent ultrasounds and three amnioreductions that resulted in spontaneous vaginal delivery at 37\u00a0weeks and 6\u00a0days of a viable newborn with no evidence of overt electrolyte abnormalities suggesting complete resolution. A detailed review of the published cases of <jats:italic>MAGED2<\/jats:italic>\u2010related transient aBS is provided. Our review focuses on individuals who received antenatal treatment. A total of 31 unique cases of <jats:italic>MAGED2\u2010<\/jats:italic>related transient aBS were compiled. Amnioreduction was performed in 23 cases and in 18 cases no amnioreduction was performed. The average gestational age at delivery was significantly lower in cases without serial amnioreduction (28.7 vs. 30.71\u00a0weeks, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.03). Neonatal mortality was seen in 5\/18 cases without serial amnioreduction, and no mortality was observed in the cases with serial amnioreduction. In cases of second trimester severe polyhydramnios without identifiable cause, whole exome sequencing should be considered. Intensive ultrasound surveillance and serial amnioreduction is recommended for the management of <jats:italic>MAGED2<\/jats:italic>\u2010related transient aBS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6508","type":"journal-article","created":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T17:10:03Z","timestamp":1703956203000},"page":"172-179","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Successful antenatal treatment of MAGED2\u2010related Bartter syndrome and review of treatment options and efficacy"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-7776-0370","authenticated-orcid":false,"given":"Caroline J.","family":"Walsh","sequence":"first","affiliation":[{"name":"The University of Colorado School of Medicine Anschutz Medical Campus  Aurora Colorado 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