title: Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester.
abstract: Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15 + 4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19 + 4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.
authors.affiliation: Department of Obstetrics, University Hospital Zurich, Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Wisser
authors.forename: G
authors.initials: G
authors.lastname: Hebisch
authors.forename: U
authors.initials: U
authors.lastname: Froster
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: T
authors.initials: T
authors.lastname: Stallmach
authors.forename: E
authors.initials: E
authors.lastname: Leumann
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: A
authors.initials: A
authors.lastname: Huch
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging* / Q000473:pathology; D008099:Liver / Q000473:pathology; D017044:Polycystic Kidney, Autosomal Recessive / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal