Polyhydramnios occurs in 1–2 % pregnancies [
[1]
]. In about 5 % of cases the polyhydramnios is severe. There are generally two major
etiologies: reduced fetal swallowing and increased fetal urination. Severe and persistent
polyhydramnios is an adverse sign for a pregnancy. This is largely due to two factors:
the likely presence of an underlying abnormality associated with polyhydramnios and
the increased incidence of preterm labor caused by increased uterine pressure. We herein report such a case,
confirmed to have Bartter syndrome (BS) in utero by using rapid exome sequencing (ES).To read this article in full you will need to make a payment
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References
- Polyhydramnios: ultrasonically detected prevalence and neonatal outcome.Obstet Gynecol. 1987; 69: 21-25
- Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.Nat Genet. 1996; 13: 183-188
- Idiopathic polyhydramnios and postnatal abnormalities.Fetal Diagn Ther. 2012; 32: 251-255
- Bartter syndrome: an overview.QJM. 2000; 93: 207-215
- Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.Nephrol Dial Transplant. 2009; 24: 1455-1464
Article info
Publication history
Published online: February 14, 2023
Accepted:
February 12,
2023
Received:
February 9,
2023
Identification
Copyright
© 2023 Elsevier B.V. All rights reserved.
