ArticleClinical medicine insights. Pediatrics2026
Severe Recurrent Polyhydramnios as a Prenatal Signal of MAGED2-Related Bartter Syndrome: A Clinical Perspective.
Article in Clinical medicine insights. Pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Severe, rapidly progressive polyhydramnios with a structurally normal fetus remains a diagnostic challenge. We describe 2 consecutive pregnancies in the same mother that were complicated by massive polyhydramnios culminating in extreme preterm delivery and intra-uterine fetal demise. Trio whole-exome sequencing identified a previously unreported hemizygous MAGED2 variant (c.1330G>A; p.Gly444Ser), confirming antenatal Bartter syndrome (ABS, type V). This case underscores 3 practical messages: (1) an X-linked MAGED2 defect should be considered early when polyhydramnios recurs without anatomical anomalies and standard chromosomal microarray is normal; (2) timely genomic testing enables targeted counseling, antenatal management (eg, indomethacin) and discussion of pre-implantation diagnosis; and (3) dismissing genetic etiologies on the basis of mild maternal factors (eg, well-controlled gestational diabetes) risks missed diagnoses.
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