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Date Published: 15/11/2023
Abstract Views: 144
Views PDF: 103
DOI: https://doi.org/10.51298/vmj.v531i2.7204
Issue
Vol. 531 No. 2 (2023)
Section
Các bài báo
How to Cite
Nguyễn , T. S., Nguyễn , D. Ánh ., Lương , T. L. A. ., Nguyễn , Đức A. ., NGô , T. H. ., Hồ , K. D. ., & Vương , T. B. T. . (2023). THE FIRST CASE DETECTED IN VIETNAM: ANHYDRAMNIOS FETUS CAUSED BY ACE GENE MUTATION. Vietnam Medical Journal, 531(2). https://doi.org/10.51298/vmj.v531i2.7204

THE FIRST CASE DETECTED IN VIETNAM: ANHYDRAMNIOS FETUS CAUSED BY ACE GENE MUTATION

Thị Sim Nguyễn 1,, Duy Ánh Nguyễn 1, Thị Lan Anh Lương 2, Đức Anh Nguyễn 2, Thị Hương NGô 1, Khánh Dung Hồ 1, Thị Bích Thủy Vương 1
1 Hanoi Obstetrics & Gynecology Hospital,
2 HMU

Main Article Content

Abstract

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 affect the mother. Worldwide, ACE gene variants associated with ARRTD have few studies, and in Vietnam they have not been reported. Oligohydramnios and anhydramnios in utero can be caused by ARRTD or many other genetic abnormalities. This condition makes it difficult to diagnose prenatal by amniocentesis and accurately identify fetal anomalies through ultrasound. In cases of kidneys and urinary tract abnormalities associated with oligohydramnios or anhydramnios, amnioinfusion into the amniotic sac and taking a sample of amniotic fluid can be performed for genetic diagnosis. We report a case of a fetus with anhydramnios and invisible urinary bladder, carrying a homozygous ACE variant NM_000789.4 (ACE), c.2503G>T (p.Glu853Ter), classified as "Pathogenic" by ACMG, related to ARRTD. The fetus inherited two alleles from heterozygous parents. The prognosis was poor, and the pregnancy was terminated. Pregnant counseling was offered for subsequent pregnancies, including options to avoid having a child with the disease, such as preimplantation genetic diagnosis or prenatal diagnosis by chorionic villus sampling or amniocentesis.

Article Details

Keywords

Anhydramnios; autosomal recessive renal tubular dysgenesis (ARRTD); ACE gene; prenatal diagnosis; genetic counseling.

References

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