ArticlePediatric cardiology2010
Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.
Article in Pediatric cardiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis.Archives of gynecology and obstetrics · 2023Pooled it
- Article
- Practical approach to extracardiac findings in CT and MR for the non-radiologist.Pediatric radiology · 2025Review
- Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review.Journal of pediatric genetics · 2024Article
- Risk factor analysis for adverse prognosis of the fetal ventricular septal defect (VSD).BMC pregnancy and childbirth · 2023Article
- Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis.Cardiovascular ultrasound · 2019Article
- Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.Journal of clinical laboratory analysis · 2019Article
- Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.Arquivos brasileiros de cardiologia · 2018Article
- Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.Molecular cytogenetics · 2015Article
- Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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