title: Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.
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.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Dong Gyu
authors.initials: DG
authors.lastname: Jang
authors.forename: Hyojin
authors.initials: H
authors.lastname: Chae
authors.forename: Jong Chul
authors.initials: JC
authors.lastname: Shin
authors.forename: In Yang
authors.initials: IY
authors.lastname: Park
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D020125:Mutation, Missense; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface