Fetal Diagnosis and Therapy

Banuelos R. · Mallawaarachchi A. · Doyle H. · Mogra R.

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Article / Publication Details 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 two years [1]. 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 utilising 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 counselling during pregnancy.

S. Karger AG, Basel

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