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Xu et al. J Transl Genet Genom 2023;7:87-93 https://dx.doi.org/10.20517/jtgg.2023.10 Page 75

Xu et al. J Transl Genet Genom 2023;7:87-93 Journal of Translational
DOI: 10.20517/jtgg.2023.10
Genetics and Genomics

Case Report Open Access

A case with prenatal molecular diagnosis of X-linked
transient antenatal Bartter syndrome

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Ke Xu , Yanqin Zhang , Xinlin Hou , Huixia Yang , Jie Ding , Fang Wang 1
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Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
2
Department of Gynaecology and Obstetrics, Peking University First Hospital, Beijing 100034, China.
Correspondence to: Dr. Fang Wang, Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. E-mail:
wangfangped@163.com
How to cite this article: Xu K, Zhang Y, Hou X, Yang H, Ding J, Wang F. A case with prenatal molecular diagnosis of X-linked
transient antenatal Bartter syndrome. J Transl Genet Genom 2023;7:87-93. https://dx.doi.org/10.20517/jtgg.2023.10
Received: 17 Feb 2023 First Decision: 17 Apr 2023 Revised: 22 Apr 2023 Accepted: 18 May 2023 Published: 26 May 2023

Academic Editors: Sanjay Gupta, Brian Hon-Yin Chung Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Early-onset polyhydramnios during pregnancy can be caused by X-linked transient antenatal Bartter syndrome.
Most of the reported cases were molecularly diagnosed after birth, whereas few cases were diagnosed in the fetus
period. We received a pregnant woman who had polyhydramnios detected by ultrasound imaging at 25 weeks of
gestation, and treated with magnesium sulfate, indomethacin and an amnioreduction at 30 weeks of gestation,
whereas amniotic fluid decreased spontaneously since 32 weeks of gestation. Prenatal molecular testing showed
the fetus carried MAGED2 hemizygous variant c.967C>T [p. (Asp323*)] inherited from the mother. The preterm
boy did not present with polyuria and electrolytes and acid-base imbalance in the early neonatal period, and had
good development without polyuria at the age of 20 months. We presented the phenotypes of a Chinese case with
a prenatal diagnosis of X-linked transient antenatal Bartter syndrome and his response to prenatal indomethacin
treatment. Early identification of the condition helps to provide appropriate prenatal genetic counseling and
postnatal management.

Keywords: Polyhydramnios, Bartter syndrome, MAGED2 pathogenic variant, prenatal diagnosis

INTRODUCTION
Polyhydramnios is a common complication of pregnancy, with an incidence rate of 1 to 2 percent and is

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