ArticlePediatric cardiology2011
The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.
Article in Pediatric cardiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 4 of them syntheses that pooled it.
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Who cites it
92 citing papers in PubMed, 4 syntheses or guidelines pooled it, 267 citations in OpenAlex.
- Maternal modifiable factors and risk of congenital heart defects: systematic review and causality assessment.BMJ open · 2024Pooled it
- Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis.Archives of gynecology and obstetrics · 2023Pooled it
- Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses.TheScientificWorldJournal · 2022Pooled it
- Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis.BMC medical genetics · 2017Pooled it
- Evaluating a family-centered care intervention for reducing post-traumatic stress and aggression among parents of infants with congenital anomalies: a randomized controlled trial.BMC psychiatry · 2026Trial
- Chromosome microarray analysis in the investigation of children with congenital heart disease.BMC pediatrics · 2017Trial
- The Heart of Fetal Growth Restriction: Congenital Heart Defects-An Analysis of Risk Factors and Morbidity Outcomes.Life (Basel, Switzerland) · 2026Article
- Delayed Diagnosis of Congenital Heart Diseases in Adults: Opportunities for Improving Diagnostic Strategies.Journal of cardiovascular development and disease · 2026Review
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil.BMC cardiovascular disorders · 2026Article
- The effect of a family-centered care program on the psychological outcomes of births with congenital malformations: A study protocol.Journal of education and health promotion · 2026Article
- Identification of serum N,N-dimethylglycine as a potential biomarker for prenatal diagnosis of congenital heart disease usingAnalytical and bioanalytical chemistry · 2025Article
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- Outcomes of Pregnancies with Absent or Hypoplastic Fetal Nasal Bone: A Retrospective Analysis of Prenatal Findings and Perinatal Outcomes.Life (Basel, Switzerland) · 2025Article
- Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.Genetic epidemiology · 2025Article
- Growth Failure in Children with Congenital Heart Disease.Children (Basel, Switzerland) · 2025Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities.Frontiers in genetics · 2025Article
- Clinical features and genetic analysis of 471 cases of fetal congenital heart disease.BMC pregnancy and childbirth · 2024Article
- Pulmonary hypertension in adults with congenital heart defects (ACHDs)-in light of the 2022 ESC PAH guidelines-part I: definition, epidemiology, classification, diagnostics, genetics, risk stratification and follow-up, gender aspects.Cardiovascular diagnosis and therapy · 2024Review
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.
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