Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect

D Paladini; G Pacileo; S Palmieri; M G Russo; A Conti; B D Piccola; P Martinelli

doi:10.1046/j.1469-0705.1998.11010068.x

Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect

Ultrasound Obstet Gynecol. 1998 Jan;11(1):68-70. doi: 10.1046/j.1469-0705.1998.11010068.x.

Authors

D Paladini¹, G Pacileo, S Palmieri, M G Russo, A Conti, B D Piccola, P Martinelli

Affiliation

¹ Department of Gynecology and Obstetrics, University Federico II of Naples, Italy.

PMID: 9511201
DOI: 10.1046/j.1469-0705.1998.11010068.x

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.

Publication types

Case Reports

MeSH terms

Amniocentesis
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Female
Heart Defects, Congenital / complications
Heart Defects, Congenital / diagnostic imaging*
Heart Defects, Congenital / genetics*
Humans
In Situ Hybridization
Pregnancy
Pulmonary Atresia / complications
Pulmonary Atresia / diagnostic imaging*
Pulmonary Atresia / genetics
Ultrasonography, Doppler, Color
Ultrasonography, Doppler, Pulsed
Ultrasonography, Prenatal