Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting

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.

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

“…Reaching a final diagnosis of RTD prenatally has been challenging because all prenatal symptoms of oligohydramnios, and IUGR are not specific. This challenge leaves genetic testing as the only viable diagnostic option after none genetic causes have been excluded [ 18 ], particularly when offered in the context of prenatal diagnosis through chorionic villus sampling. Even when early symptoms began to emerge postnatally, the patient's instability did not indicate a specific diagnosis.…”

The Effect of Maternal Lower Limb Compression on Amniotic Fluid Index, Uteroplacental Perfusion, and Fetal Blood Flow in Isolated Oligohydramnios

“…Oligohydramnios, defined as decreased amniotic fluid volume for gestational age, complicates 3–5% of pregnancies [1]. Oligohydramnios is associated with adverse pregnancy outcome [2]. A systematic review by Rabie et al [3] evaluated adverse pregnancy outcomes in singleton pregnancies diagnosed with oligohydramnios.…”