ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Clinical and cost-effectiveness of detailed anomaly ultrasound screening in the first trimester: a mixed-methods study.Health technology assessment (Winchester, England) · 2025Pooled it
- First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2022Pooled it
- Prenatal detection and outcome of major heart defects in a country with universal screening.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.Prenatal diagnosis · 2026Article
- Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network.Paediatric and perinatal epidemiology · 2026Article
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease.Prenatal diagnosis · 2025Article
- Simplified First-Trimester Fetal Cardiac Screening Protocol for Low-Risk Pregnancies: Enhancing Efficiency and Accuracy.Australasian journal of ultrasound in medicine · 2025Article
- Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease.Scientific reports · 2025Article
- Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study.Orphanet journal of rare diseases · 2024Article
- Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes.Molecular cytogenetics · 2024Article
- Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.Molecular cytogenetics · 2024Article
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
- Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice.Frontiers in genetics · 2024Article
- Organ Abnormalities Caused by Turner Syndrome.Cells · 2023Review
- Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy.Fetal diagnosis and therapy · 2023Article
- Prevalence of chromosomal disorders in cases with congenital heart defect: registry-based study from Denmark between 2008 and 2018.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2023Article
- The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019.Health promotion and chronic disease prevention in Canada : research, policy and practice · 2023Article
- Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing.Frontiers in genetics · 2023Article
- Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery.Scientific reports · 2022Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected with these tests. This cohort study aims to estimate the frequency of causal genetic variants, in particular structural chromosome abnormalities and sequence variants, in fetuses with severe CHD at mid-gestation, to aid prenatal counselling.
methodsFetuses with severe CHD were extracted from the PRECOR registry (2012-2016). We evaluated pre- and postnatal genetic testing results retrospectively to estimate the frequency of genetic diagnoses in general, as well as for specific CHDs.
results919 fetuses with severe CHD were identified. After exclusion of 211 cases with aneuploidy, a genetic diagnosis was found in 15.7% (111/708). These comprised copy number variants in 9.9% (70/708). In 4.5% (41/708) sequence variants were found that would have remained undetected with CMA. Interrupted aortic arch, pulmonary atresia with ventricular septal defect and atrioventricular septal defect were most commonly associated with a genetic diagnosis.
conclusionIn case of normal CMA results, parents should be offered exome sequencing sequentially, if time allows for it, especially if the CHD is accompanied by other structural malformations due to the large variety in genetic syndromes.
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