Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography

Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography

Author Silva Bellucco, Fernanda Teixeira da Autor UNIFESP Google Scholar
Nogueira Belangero, Sintia Iole Autor UNIFESP Google Scholar
Silveira Farah, Leila Montenegro Google Scholar
Lima Machado, Maria Virginia Google Scholar
Cruz, Adriano Pastor Google Scholar
Lopes, Lilian Maria Google Scholar
Borges Lopes, Marco Antonio Google Scholar
Zugaib, Marcelo Google Scholar
Cernach, Mirlene Cecilia Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Clin & Lab Genet
Clin Cardiofetal
Universidade de São Paulo (USP)
Abstract Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. in fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion is one of the most recognizable chromosomal abnormalities causing CHD. the frequency of this abnormality varies in nonselected populations. This study aimed to investigate the incidence of the 22q11.2 deletion and other chromosomal alterations in a Brazilian sample of fetuses with structural cardiac anomalies detected by fetal echocardiography. in a prospective study, 68 fetuses with a heart defect were evaluated. Prenatal detection of cardiac abnormalities led to identification of aneuploidy or structural chromosomal anomaly in 35.3% of these cases. None of the fetuses with apparently normal karyotypes had a 22q11.2 deletion. the heart defects most frequently associated with chromosomal abnormalities were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and tetralogy of Fallot. Autosomal trisomies 18 and 21 were the most common chromosomal abnormalities. the study results support the strong association of chromosome alterations and cardiac malformation, especially in AVSD and VSD, for which a chromosome investigation is indicated. in fetuses with an isolated conotruncal cardiopathy, fluorescence in situ hybridization (FISH) to investigate a 22q11.2 deletion is not indicated.
Keywords Chromosomal alterations
Deletion 22q11.2
Fetal echocardiography
Heart defect
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Date 2010-11-01
Published in Pediatric Cardiology. New York: Springer, v. 31, n. 8, p. 1146-1150, 2010.
ISSN 0172-0643 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 1146-1150
Access rights Closed access
Type Article
Web of Science ID WOS:000284157400003

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