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Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting
- Source :
- Fetal Diagnosis and Therapy. 50:17-21
- Publication Year :
- 2023
- Publisher :
- S. Karger AG, 2023.
-
Abstract
- Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare disorder of renal tubular development. ARRTD is a severe condition with high risk of fetal demise and early neonatal death, with only limited case reports of survival over 2 years [Clin Kidney J. 2012 Feb 1;5(1):56–8]. Prenatal diagnosis of ARRTD is challenging, and diagnosis has only previously been confirmed after postnatal or post-mortem investigation. Case: To the best of our knowledge, we describe the first reported case of utilizing targeted genetic testing on the chorionic villous sample (CVS) to identify a homozygous variant in the angiotensinogen (AGT) gene. Discussion: By substantiating the diagnosis of ARRTD prenatally, we allow timely and appropriate counseling during pregnancy.
Details
- ISSN :
- 14219964 and 10153837
- Volume :
- 50
- Database :
- OpenAIRE
- Journal :
- Fetal Diagnosis and Therapy
- Accession number :
- edsair.doi...........25a81304f1aa5a585d390dc940c1cb15
- Full Text :
- https://doi.org/10.1159/000529081