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Title: Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography
Authors: Silva Bellucco, Fernanda Teixeira da [UNIFESP]
Nogueira Belangero, Sintia Iole [UNIFESP]
Silveira Farah, Leila Montenegro
Lima Machado, Maria Virginia
Cruz, Adriano Pastor
Lopes, Lilian Maria
Borges Lopes, Marco Antonio
Zugaib, Marcelo
Cernach, Mirlene Cecilia [UNIFESP]
Melaragno, Maria Isabel [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Clin & Lab Genet
Clin Cardiofetal
Universidade de São Paulo (USP)
Keywords: Chromosomal alterations
Deletion 22q11.2
Fetal echocardiography
Heart defect
Issue Date: 1-Nov-2010
Publisher: Springer
Citation: Pediatric Cardiology. New York: Springer, v. 31, n. 8, p. 1146-1150, 2010.
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.
ISSN: 0172-0643
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