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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

Authors :
Remi Banuelos
Amali Mallawaarachchi
Helen Doyle
Ritu Mogra
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