Diagnosis of antenatal Bartter syndrome
Open accessAbstract
ESTABLISHED FACTS: Bartter syndrome is a rare heterogeneous group of autosomal-recessive salt-losing renal tubular disorders that can present in fetal life (antenatal Bartter syndrome; ABS) as "unexplained" early-onset polyhydramnios, often associated with growth restriction. Prenatal diagnosis of the condition involves assessment of amniotic fluid biochemistry in a setting of polyuric polyhydramnios; with elevated chloride levels considered a consistent and diagnostic finding. Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels. NOVEL INSIGHT: Antenatal Bartter syndrome is a heterogeneous group of renal disorders. While certain biochemical features in amniotic fluid might heighten suspicion, final diagnosis can only be made in the postnatal setting. In the setting of unexplained severe polyhydramnios, clinicians should continue to entertain the diagnosis of antenatal Bartter Syndrome and maintain neonatal surveillance, even if amniotic fluid markers do not support the diagnosis.
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Idiopathic polyhydramnios may be associated with macrosomia, and fetal growth restriction associated with polyhydramnios presents a high risk for an underlying fetal abnormality, including trisomy 13 or 18.
“It is important to assess fetal growth because idiopathic polyhydramnios may be associated with macrosomia, and fetal growth restriction associated with polyhydramnios presents a high risk for an underlying fetal abnormality, including trisomy 13 or 18. 31,32”
From SMFM Consult Series #46: Evaluation and management of polyhydramnios (2018) · cites this paper as [31]
The Abstract and Discussion (page numbers unavailable) describe antenatal Bartter syndrome as a possible underlying condition when polyhydramnios occurs with fetal growth restriction. They do not support an association between idiopathic polyhydramnios and macrosomia, quantify a high risk of fetal abnormality, or identify trisomy 13 or 18 as causes in this setting. The Case Report mentions those trisomies only as conditions for which screening returned a low risk. (LLM, conf=0.83)
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Cites
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SMFM Consult Series #46: Evaluation and management of polyhydramnios
Dashe, J. S., Pressman, E. K., & Hibbard, J. U. (2018) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2018.07.016 · Cited by 135 · see citing works
- Authors
- Narayan, R., Peres, M., & Kesby, G.
- Corresponding author
- Narayan, R.
- ORCID
- Venue
- Clinical and Experimental Obstetrics & Gynecology
- Publisher
- IMR Press
- Published
- 2016-06-10
- Volume
- 43
- Issue
- 3
- Pages
- 453-454
- ISSN
- 0390-6663 (ISSN-L)
- OpenAlex
- W2470573504
- Cited by
- 3
- References
- 13
- Citations by year
- 2026: 1 · 2018: 1 · 2017: 1
- FWCI
- 0.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Clinical and Experimental Obstetrics & Gynecology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
- Health Sciences › Medicine › Obstetrics and Gynecology › Pregnancy and preeclampsia studies
- Keywords
- antenatal Bartter syndrome, polyhydramnios, amniotic fluid biochemistry, renal tubular disorders, autosomal recessive inheritance, fetal growth restriction, neonatal surveillance, prenatal diagnosis
- MeSH terms
- Adult, Aldosterone, Amniotic Fluid, Bartter Syndrome, Bicarbonates, Female, Humans, Polyhydramnios, Infant, Newborn, Pregnancy, Prenatal Diagnosis, Sodium Chloride, Biomarkers
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