Polyhydramnios as a prenatal symptom of the DiGeorge/velo-cardio-facial syndrome

• Published in: Prenatal diagnosis Vol. 18; no. 1; pp. 68 - 72
• Main Authors: Devriendt, Koenraad, Van Schoubroeck, Dominique, Eyskens, Benedicte, Vantrappen, Greet, Swillen, Ann, Gewillig, Marc, Dumoulin, Monique, Moerman, Philippe, Vandenberghe, Kamiel, Fryns, Jean-Pierre
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01-01-1998; Wiley
• Subjects: Amniocentesis; Biological and medical sciences; Chromosomes, Human, Pair 22; Craniofacial Abnormalities - diagnosis; Craniofacial Abnormalities - genetics; deletion 22q11; DiGeorge syndrome; Fatal Outcome; Female; Gene Deletion; Gynecology. Andrology. Obstetrics; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotyping; Management. Prenatal diagnosis; Medical sciences; polyhydramnios; Polyhydramnios - diagnostic imaging; Pregnancy; Pregnancy. Fetus. Placenta; Prenatal Diagnosis; Syndrome; Tetralogy of Fallot - genetics; Truncus Arteriosus, Persistent - genetics; Ultrasonography, Prenatal; velo-cardio-facial syndrome; Case study; Human; Hydramnion; Prenatal; Symptomatology; Pregnancy disorders; DiGeorge syndrome; Fetus; Diagnosis; Complex syndrome
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199801)18:1<68::AID-PD211>3.0.CO;2-I

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. © 1998 John Wiley & Sons, Ltd.