Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect.
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.
Paladini
D
D
Department of Gynecology and Obstetrics, University Federico II of Naples, Italy.
Pacileo
G
G
Palmieri
S
S
Russo
M G
MG
Conti
A
A
Piccola
B D
BD
Martinelli
P
P
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