Prenatal detection of congenital heart disease—results of a national screening programme
Open accessAbstract
Objective: Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was introduced in 2007. This study evaluates the effects of this screening programme. Design: Geographical cohort study. Setting: Large referral region of three tertiary care centres. Population: Fetuses and infants diagnosed with severe CHD born between 1 January 2002 and 1 January 2012. Methods: Cases were divided into two groups: before and after the introduction of screening. Main outcome measures: Detection rates were calculated. Results: The prenatal detection rate (n = 1912) increased with 23.9% (95% confidence interval [95% CI] 19.5–28.3) from 35.8 to 59.7% after the introduction of screening and of isolated CHD with 21.4% (95% CI 16.0–26.8) from 22.8 to 44.2%. The highest detection rates were found in the hypoplastic left heart syndrome, other univentricular defects and complex defects with atrial isomerism (>93%). Since the introduction of screening, the ‘late’ referrals (after 24 weeks of gestation) decreased by 24.3% (95% CI 19.3–29.3). Conclusions: This is the largest cohort study to investigate the prenatal detection rate of severe CHD in an unselected population. A nationally organised screening has resulted in a remarkably high detection rate of CHD (59.7%) compared with earlier literature.
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In PRECOR, the prevalence of severe CHD is 2.3 per 1000 live births, which corresponds with earlier reported prevalence and is a strong indicator of the completeness of the registry.
“In PRECOR, the prevalence of severe CHD, defined as heart defects needing surgery or a therapeutic intervention in the first year of life, is 2.3 of 1000 live births, which corresponds with earlier reported prevalence of CHD.The encountered prevalence in the registry is a strong indicator of the completeness of this registry.1”
From The effect of the introduction of the three‐vessel view on the detection rate of transposition of the great arteries and tetralogy of <scp>Fallot</scp> (2018) · cites this paper as [1]
ToF is associated with a significant risk of genetic syndromes.
“However, since ToF is associated with a significant risk of genetic syndromes, 1 timely prenatal diagnosis provides the opportunity to perform genetic analysis during pregnancy, if desired by the parents.”
From The effect of the introduction of the three‐vessel view on the detection rate of transposition of the great arteries and tetralogy of <scp>Fallot</scp> (2018) · cites this paper as [1]
The detection rates for ToF and TGA in prenatal screening programs need improvement, especially in studies based on regional cohorts.
“Despite the relatively high prevalence, the detection rates (DRs) for ToF and TGA in prenatal screening programs need improvement, especially if studies based on regional cohorts are taken into account.1”
From The effect of the introduction of the three‐vessel view on the detection rate of transposition of the great arteries and tetralogy of <scp>Fallot</scp> (2018) · cites this paper as [1]
Compared with other regional cohort studies, the detection rates for congenital heart defects in the Netherlands are high (59.6% for all CHDs combined).
“Compared with those of other regional cohort studies 13,14 , the DRs for congenital heart defects (CHD) in the Netherlands are high (59.6% for all CHDs combined).1,15”
From The effect of the introduction of the three‐vessel view on the detection rate of transposition of the great arteries and tetralogy of <scp>Fallot</scp> (2018) · cites this paper as [1]
Previously described screening programs looking at regional cohorts show persistently low detection rates of 40% to 50% for all CHDs combined, with very low detection rates for conotruncal anomalies like TGA and ToF in the majority of programs.
“Previously described screening programs looking at regional cohorts show persistently low DRs of 40% to 50% for all CHDs combined, with very low DRs for conotruncal anomalies like TGA and ToF in the majority of programs.1”
From The effect of the introduction of the three‐vessel view on the detection rate of transposition of the great arteries and tetralogy of <scp>Fallot</scp> (2018) · cites this paper as [1]
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Self-citation
- Authors
- van Velzen, C., Clur, S., Rijlaarsdam, M., Bax, C., Pajkrt, E., Heymans, M., Bekker, M., Hruda, J., de Groot, C., Blom, N., & Haak, M.
- Affiliations
- Department of Obstetrics and Gynaecology VU University Medical Centre Amsterdam the Netherlands
- Department of Pediatric Cardiology Academic Medical Centre Emma Children's Hospital Amsterdam the Netherlands
- Department of Paediatric Cardiology Leiden University Medical Centre Leiden the Netherlands
- Amsterdam UMC Location University of Amsterdam (NL)
- Department of Epidemiology and Biostatistics VU University Medical Centre Amsterdam the Netherlands
- Department of Obstetrics and Gynaecology Radboud University Medical Centre Nijmegen the Netherlands
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Leiden University (NL)
- Department of Obstetrics and Gynaecology Leiden University Medical Centre Leiden the Netherlands
- Venue
- BJOG: An International Journal of Obstetrics & Gynaecology
- Publisher
- Wiley
- Published
- 2015-01-27
- Volume
- 123
- Issue
- 3
- Pages
- 400-407
- ISSN
- 0306-5456 (ISSN-L)
- 1470-0328
- 1471-0528
- OpenAlex
- W2097437284
- Cited by
- 240
- References
- 39
- Citations by year
- 2026: 14 · 2025: 12 · 2024: 27 · 2023: 28 · 2022: 27 · 2021: 28 · 2020: 23 · 2019: 23 · 2018: 17 · 2017: 18 · 2016: 15 · 2015: 7
- FWCI
- 14.90
- Type
- journal article
- Language
- en
- Open access
- green
- pure.amsterdamumc.nl
- Licence
- Locations
- BJOG An International Journal of Obstetrics & Gynaecology (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Funders
- Universiteit Leiden
- Vrije Universiteit Amsterdam
- Topics
- Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- congenital heart disease, prenatal screening, prenatal diagnosis, detection rate, national screening program, hypoplastic left heart syndrome, atrial isomerism, late referral, congenital malformations
- MeSH terms
- Female, Heart Defects, Congenital, Humans, Netherlands, Pregnancy, Prospective Studies, Severity of Illness Index, Cohort Studies, Program Evaluation, Ultrasonography, Prenatal
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