Fetal Diagnosis and Therapy

Banuelos R.a· Mallawaarachchi A.b· Doyle H.c· Mogra R.a

Author affiliations

aDepartment of Women and Babies, Royal Prince Alfred Hospital, Sydney, NSW, Australia
bDepartment of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia
cDepartment of Histopathology, Children’s Hospital Westmead, Sydney, NSW, Australia

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Article / Publication Details

Received: October 13, 2021
Accepted: January 04, 2023
Published online: January 18, 2023

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

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.

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Received: October 13, 2021
Accepted: January 04, 2023
Published online: January 18, 2023

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

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