title: Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships.
abstract: In 2 consanguineous relationships, a Cape Verdian man fathered six fetuses (5 male) with fetal ventriculomegaly and echodense fetal kidneys as visualized by ultrasonography between 16 and 32 weeks. During prenatal monitoring, an increased alpha fetoprotein level and abnormal acetylcholinesterase were detected at amniocentesis in 5 of 6 affected fetuses. Chromosomes were normal. Five pregnancies resulted in elective termination; one child was still-born prematurely. Hydrocephalus and cystic disease of the (renal) cortico medullary areas were found. One fetus had polydactyly. The differential diagnosis and prenatal diagnosis of this presumably autosomal recessive syndrome are discussed.
authors: Department of Obstetrics and Gynecology, Erasmus University Rotterdam, The Netherlands.
authors: A
authors: A
authors: Reuss
authors: J C
authors: JC
authors: den Hollander
authors: M F
authors: MF
authors: Niermeijer
authors: J W
authors: JW
authors: Wladimiroff
authors: O P
authors: OP
authors: van Diggelen
authors: D
authors: D
authors: Lindhout
authors: F J
authors: FJ
authors: Los
mesh_terms: D000110:Acetylcholinesterase; D002552:Cerebral Ventricles / Q000002:abnormalities*; D003241:Consanguinity; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography; D000509:alpha-Fetoproteins
chemical_list: D000509:alpha-Fetoproteins; D000110:Acetylcholinesterase