title: Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
abstract: Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal heart defect and polyhydramnios, the del 22q11 was made prenatally by fluorescence in situ hybridization (FISH) after amniocentesis. Seven additional patients with a del 22q11 were identified, who presented during pregnancy with polyhydramnios. In one of them, unilateral hydronephrosis was present. These findings further add to a growing list of clinical presentations of a del 22q11 and suggest that in patients with polyhydramnios and a conotruncal heart defect or uropathy, fetal karyotyping should be complemented by FISH for a del 22q11.
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: D
authors.initials: D
authors.lastname: Van Schoubroeck
authors.forename: B
authors.initials: B
authors.lastname: Eyskens
authors.forename: G
authors.initials: G
authors.lastname: Vantrappen
authors.forename: A
authors.initials: A
authors.lastname: Swillen
authors.forename: M
authors.initials: M
authors.lastname: Gewillig
authors.forename: M
authors.initials: M
authors.lastname: Dumoulin
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: K
authors.initials: K
authors.lastname: Vandenberghe
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000649:Amniocentesis; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D006831:Polyhydramnios / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics; D014339:Truncus Arteriosus, Persistent / Q000235:genetics; D016216:Ultrasonography, Prenatal