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- Title
Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.
- Authors
Dong Gyu Jang; Hyojin Chae; Jong Chul Shin; In Yang Park; Myungshin Kim; Yonggoo Kim
- Abstract
A 27-year-old primigravida was referred for evaluation of severe oligohydramnios at 22 weeks of gestation. For a more accurate diagnosis and detection of other fetal anomalies, complementary fetal magnetic resonance imaging (MRI) was performed. Findings of fetal MRI evaluation were consistent with autosomal recessive polycystic kidney disease (ARPKD). Parental mutation analysis in the PKHD1 gene was performed. By PKHD1 mutation analysis, we were able to identify a heterozygous missense mutation in exon 20 (K626R) in the father. Molecular genetic analysis can be helpful for an early and reliable prenatal diagnosis of ARPKD. Herein, we present a case of ARPKD that was diagnosed at 22 weeks of gestation by ultrasonographic examination and MRI and verified by PKHD1 mutation analysis and array-based genetic deletion analysis.
- Subjects
PRENATAL genetic testing; POLYCYSTIC kidney disease; ABORTION; AMNIOTIC liquid; KIDNEYS; MAGNETIC resonance imaging; PREGNANCY complications; PRENATAL diagnosis; FETUS; DIAGNOSIS
- Publication
Journal of Obstetrics & Gynaecology Research, 2011, Vol 37, Issue 11, p1744
- ISSN
1341-8076
- Publication type
Article
- DOI
10.1111/j.1447-0756.2011.01594.x