What question did this study set out to answer?

To investigate two cases of fetal bartter syndrome associated with a novel genetic variant identified through prenatal indicators.

April 22, 2026

Two Cases of Prenatally Suspected Fetal Bartter Syndrome With a Novel Genetic Variant Indicated by Polyhydramnios and Amniotic Fluid Biochemistry

Key Points

To investigate two cases of fetal bartter syndrome associated with a novel genetic variant identified through prenatal indicators.
Conducted transabdominal ultrasound to assess polyhydramnios in two cases.
Analyzed amniotic fluid biochemistry to support diagnosis.
Both cases presented with polyhydramnios, with maximum vertical pockets measuring 10.0 cm and 9.3 cm.
Identification of a novel genetic variant linked to fetal bartter syndrome.

Abstract

The authors declare no conflicts of interest. The data underlying this article cannot be shared publicly due to patient privacy concerns. De-identified data are available from the corresponding author upon reasonable request. Figure S1: Transabdominal ultrasound images obtained in Case 1 (A) and Case 2 (B), for which the maximum vertical pockets were 10.0 and 9.3 cm, respectively, indicating polyhydramnios in both patients. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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