Cited by 205Congenital Heart Disease StudiesPrenatal Screening and DiagnosticsCongenital Anomalies and Fetal Surgery

Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience

Marek, Jan, Tomek, Viktor, Škovránek, Jan, Povýšilová, Viera, Šamánek, Milan·2011·Heart

Abstract

Objective: To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. Design and setting: A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986–2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. Patients and results: In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986–1999 and 2000–2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. Conclusion: The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

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Crossref · 10.1136/hrt.2010.206623

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Authors
Marek, J., Tomek, V., Škovránek, J., Povýšilová, V., & Šamánek, M.
Affiliations
  • Great Ormond Street Hospital (GB)
  • University Hospital in Motol (CZ)
Corresponding author
Marek, Jan
Venue
Heart
Publisher
BMJ
Published
2010-12-16
Volume
97
Issue
2
Pages
124-130
ISSN
  • 1355-6037 (ISSN-L)
  • 1468-201X
OpenAlex
W2102065794
Cited by
205
References
38
Citations by year
2026: 6 · 2025: 4 · 2024: 11 · 2023: 6 · 2022: 15 · 2021: 21 · 2020: 19 · 2019: 15 · 2018: 8 · 2017: 20 · 2016: 13 · 2015: 14 · 2014: 18 · 2013: 15 · 2012: 15
FWCI
8.14
Type
journal article
Language
en
Open access
closed
Locations
  • Heart (publishedVersion)
  • PubMed (publishedVersion)
Funders
Ministerstvo Zdravotnictví Ceské Republiky
Topics
  • Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
Keywords
congenital heart disease, prenatal ultrasound screening, prenatal diagnosis, prevalence, extracardiac anomalies, fetal death, hypoplastic left heart syndrome, double outlet right ventricle, transposition of the great arteries, natural history (disease), screening program evaluation
MeSH terms
Echocardiography, Female, Fetal Heart, Follow-Up Studies, Heart Defects, Congenital, Humans, Pregnancy, Pregnancy Outcome, Prevalence, Survival Rate, Ultrasonography, Prenatal, Czech Republic

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