title: Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease.
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder. Ultrasound (US) findings can include enlarged echogenic kidneys in utero and cysts in multiple organs in adults. Though a highly penetrant disease, due to varied clinical expression and the typical late onset of symptoms, reproductive-aged women may not know their carrier status. We present two cases in which fetal US findings suggested ADPKD and additional evaluation identified likely maternal ADPKD as well.
authors.affiliation: Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Colorado Institute for Maternal and Fetal Health, University of Colorado Denver, Aurora, CO, USA.
authors.forename: A G
authors.initials: AG
authors.lastname: Euser
authors.affiliation: Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Colorado Institute for Maternal and Fetal Health, University of Colorado Denver, Aurora, CO, USA.
authors.forename: J F
authors.initials: JF
authors.lastname: Sung
authors.affiliation: Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Colorado Institute for Maternal and Fetal Health, University of Colorado Denver, Aurora, CO, USA.
authors.forename: S
authors.initials: S
authors.lastname: Reeves
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging* / Q000196:embryology; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal