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Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis
Author(s) -
Jang Dong Gyu,
Chae Hyojin,
Shin Jong Chul,
Park In Yang,
Kim Myungshin,
Kim Yonggoo
Publication year - 2011
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.2011.01594.x
Subject(s) - autosomal recessive polycystic kidney disease , medicine , prenatal diagnosis , missense mutation , oligohydramnios , genetic testing , genetic counseling , mutation , compound heterozygosity , mutation testing , multicystic dysplastic kidney , genetic analysis , polycystic kidney disease , amniocentesis , pathology , fetus , obstetrics , pediatrics , genetics , pregnancy , disease , kidney , gene , biology
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.