title: Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect.
abstract: A case of prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect is described. This type of chromosomal aberration has been shown to be present in up to 30% of isolated conotruncal anomalies and in most cases of DiGeorge and velocardiofacial syndromes. The implications of such a diagnosis on prenatal counselling are discussed.
authors.affiliation: Department of Gynecology and Obstetrics, University Federico II of Naples, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Paladini
authors.forename: G
authors.initials: G
authors.lastname: Pacileo
authors.forename: S
authors.initials: S
authors.lastname: Palmieri
authors.forename: M G
authors.initials: MG
authors.lastname: Russo
authors.forename: A
authors.initials: A
authors.lastname: Conti
authors.forename: B D
authors.initials: BD
authors.lastname: Piccola
authors.forename: P
authors.initials: P
authors.lastname: Martinelli
mesh_terms: D000649:Amniocentesis; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D011247:Pregnancy; D018633:Pulmonary Atresia / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D018615:Ultrasonography, Doppler, Color; D018617:Ultrasonography, Doppler, Pulsed; D016216:Ultrasonography, Prenatal