Prenatal diagnosis of autosomal recessive renal tubular dysgenesis caused by variants in the ACE gene: Two fetuses with anhydramnios

Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare genetic disorder with a very high mortality rate. The typical symptoms of the disease during pregnancy are oligohydramnios, anhydramnios, and nearly all affected fetuses die after birth or have a stillbirth in late gestation, which can a...

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Bibliographic Details
Published in:Prenatal diagnosis 2024-02, Vol.44 (2), p.255-259
Main Authors: Nguyen Thi, Sim, Nguyen Duy, Anh, Luong Thi Lan, Anh, Pho Hong, Diep, Thu, Huong Nguyen, Huu, Bay Luong, Nguyen Duc, Anh, Thi, Huong Ngo, Thi, Canh Thu Than
Format: Article
Language:English
Subjects:
ACE protein
Amniocentesis
Amniotic fluid
Diagnosis
Fetuses
Genetic disorders
Genetic screening
Genotypes
Hypoplasia
Kidneys
Phenotypes
Prenatal diagnosis
Signs and symptoms
Urinary bladder
Urinary tract
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Summary:Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare genetic disorder with a very high mortality rate. The typical symptoms of the disease during pregnancy are oligohydramnios, anhydramnios, and nearly all affected fetuses die after birth or have a stillbirth in late gestation, which can adversely increase maternal risks. Oligohydramnios/anhydramnios can make both amniocentesis for diagnostic testing and morphological evaluation via ultrasound more difficult. In cases of oligohydramnios/anhydramnios suspicious for urinary tract anomalies, amnioinfusion is a meaningful technique that facilitates sampling of amniotic fluid for genetic diagnosis. We report two cases of fetuses with anhydramnios and invisible urinary bladder. Clinical exome sequencing from amniotic fluid revealed a biparentally inherited homozygous pathogenic nonsense ACE variant c.2503G 〉 T [p.Glu853Ter] in proband 1 and a biparentally inherited homozygous pathogenic nonsense ACE variant c.2992C 〉 T [p.Gln998Ter] in proband 2. The prognosis was poor and the patients elected to terminate the pregnancies. Additional post-mortem histopathological examination from the renal tissue of the second fetus showed renal tubular hypoplasia. To our knowledge for the first time, we describe the prenatal diagnosis of ARRTD in Vietnam, and highlight the benefit of detecting ACE variants associated with ARRTD in fetuses with oligohydramnios/anhydramnios through amnioinfusion and amniocentesis, which improves genotype-phenotype correlations and provides valuable information for reproductive counseling.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.6484