Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience
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.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [13]
Cites
The incidence of congenital heart disease.
Hoffman, J. I. E., & Kaplan, S. (2002) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(02)01886-7 · Cited by 6,099 · see citing works
Detection of Transposition of the Great Arteries in Fetuses Reduces Neonatal Morbidity and Mortality
Bonnet, D., Coltri, A., Butera, G., Fermont, L., Le Bidois, J., Kachaner, J., & Sidi, D. (1999) · Circulation · doi:10.1161/01.cir.99.7.916 · Cited by 760 · see citing works
Improved Surgical Outcome After Fetal Diagnosis of Hypoplastic Left Heart Syndrome
Tworetzky, W., McElhinney, D. B., Reddy, V. M., Brook, M. M., Hanley, F. L., & Silverman, N. H. (2001) · Circulation · doi:10.1161/01.cir.103.9.1269 · Cited by 678 · see citing works
Effect of Prenatal Ultrasound Screening on Perinatal Outcome
Ewigman, B., Crane, J. P., Frigoletto, F. D., LeFevre, M. L., Bain, R. P., & McNellis, D. (1993) · New England Journal of Medicine · doi:10.1056/nejm199309163291201 · Cited by 595 · see citing works
Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus
Allan, L. D., Sharland, G. K., Milburn, A., Lockhart, S. M., Groves, A. M. M., Anderson, R. H., Cook, A. C., & Nuala, L. K. (1994) · Journal of the American College of Cardiology · doi:10.1016/0735-1097(94)90391-3 · Cited by 489 · see citing works
Šamánek, M., & Voříšková, M. (1999) · Pediatric Cardiology · doi:10.1007/s002469900502 · Cited by 401 · see citing works
Self-citationBalloon Dilation of Severe Aortic Stenosis in the Fetus
Tworetzky, W., Wilkins-Haug, L. E., Jennings, R. W., van der Velde, M. E., Marshall, A. C., Marx, G. R., Colan, S. D., Benson, C. B., Lock, J. E., & Perry, S. B. (2004) · Circulation · doi:10.1161/01.cir.0000144357.29279.54 · Cited by 398 · see citing works
Incidence of congenital heart disease: II. Prenatal incidence
Hoffman, J. I. E. (1995) · Pediatric Cardiology · doi:10.1007/bf00794186 · Cited by 396 · see citing works
Mahle, W. T., Clancy, R. R., McGaurn, S. P., Goin, J. E., & Clark, B. J. (2001) · Pediatrics · doi:10.1542/peds.107.6.1277 · Cited by 375 · see citing works
Improving the effectiveness of routine prenatal screening for major congenital heart defects
Carvalho, J. S., Mavrides, E., Shinebourne, E. A., Campbell, S. C., & Thilaganathan, B. (2002) · Heart · doi:10.1136/heart.88.4.387 · Cited by 361 · see citing works
Bull, C. (1999) · The Lancet · doi:10.1016/s0140-6736(99)01167-8 · Cited by 359 · see citing works
Effect of Prenatal Ultrasound Screening on Perinatal Outcome
Ewigman, B., Crane, J. P., Frigoletto, F. D., LeFevre, M. L., Bain, R. P., & McNellis, D. (1994) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-199402000-00005 · Cited by 323 · see citing works
McElhinney, D. B., Marshall, A. C., Wilkins-Haug, L. E., Brown, D. W., Benson, C. B., Silva, V., Marx, G. R., Mizrahi‐Arnaud, A., Lock, J. E., & Tworetzky, W. (2009) · Circulation · doi:10.1161/circulationaha.109.848994 · Cited by 315 · see citing works
Šamánek, M., Slavík, Z., Zbořilová, B., Hroboňová, V., Voříšková, M., & Skovranek, J. (1989) · Pediatric Cardiology · doi:10.1007/bf02083294 · Cited by 303 · see citing works
Self-citationKhoshnood, B., De Vigan, C., Vodovar, V., Goujard, J., Lhomme, A., Bonnet, D., & Goffinet, F. (2005) · Pediatrics · doi:10.1542/peds.2004-0516 · Cited by 302 · see citing works
Kohl, T., Sharland, G. K., Allan, L. D., Gembruch, U., Chaoui, R., Lopes, L. M., Zielinsky, P., Huhta, J. C., & Silverman, N. H. (2000) · The American Journal of Cardiology · doi:10.1016/s0002-9149(00)00733-5 · Cited by 273 · see citing works
Balloon dilatation of the aortic valve in the fetus: a report of two cases.
Maxwell, D. L., Ld, A., & Tynan, M. J. (1991) · Heart · doi:10.1136/hrt.65.5.256 · Cited by 251 · see citing works
Sharland, G. K., & Allan, L. D. (1992) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.1992.tb14503.x · Cited by 209 · see citing works
Fetal pulmonary valvuloplasty for critical pulmonary stenosis or atresia with intact septum
Tulzer, G., Arzt, W., Franklin, R. C. G., Loughna, P. V., Mair, R., & Gardiner, H. M. (2002) · The Lancet · doi:10.1016/s0140-6736(02)11531-5 · Cited by 205 · see citing works
Morphological and Physiological Predictors of Fetal Aortic Coarctation
Matsui, H., Mellander, M., Roughton, M., Jičínská, H., & Gardiner, H. M. (2008) · Circulation · doi:10.1161/circulationaha.108.787598 · Cited by 177 · see citing works
Montaña, E., Khoury, M. J., Cragan, J. D., Sharma, S., Dhar, P. K., & Fyfe, D. A. (1996) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(96)00381-6 · Cited by 162 · see citing works
Children with congenital heart disease: Probability of natural survival
Šamánek, M. (1992) · Pediatric Cardiology · doi:10.1007/bf00793947 · Cited by 150 · see citing works
Self-citationDouble outlet right ventricle: aetiologies and associations
Obler, D., Juraszek, A. L., Smoot, L. B., & Natowicz, M. R. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.057984 · Cited by 123 · see citing works
Head, C., Jowett, V., Sharland, G. K., et al. (2005) · Heart · doi:10.1136/hrt.2003.033027 · Cited by 122 · see citing works
Evaluation of prenatal diagnosis of congenital heart disease
Stoll, C. G., Alembik, Y., Dott, B., Roth, P. M., & de Geeter, B. (1993) · Prenatal Diagnosis · doi:10.1002/pd.1970130606 · Cited by 101 · see citing works
Fesslová, V., Nava, S., Villa, L., & Fetal Cardiology Study Group (1999) · Heart · doi:10.1136/hrt.82.5.594 · Cited by 87 · see citing works
Fetal Echocardiography: Retrospective Review of Clinical Experience and an Evaluation of Indications
Cooper, M. J. (1995) · Obstetrics and Gynecology · doi:10.1016/0029-7844(95)00215-d · Cited by 81 · see citing works
Paladini, D., Russo, M. G., Teodoro, A., Pacileo, G., Capozzi, G., Martinelli, P., Nappi, C., & Calabrò, R. (2002) · Prenatal Diagnosis · doi:10.1002/pd.356 · Cited by 71 · see citing works
Yates, R. (2004) · Prenatal Diagnosis · doi:10.1002/pd.1072 · Cited by 62 · see citing works
Fetal echocardiography: retrospective review of clinical experience and an evaluation of indications
COOPER, M., Enderlein, M. A., DYSON, D., et al. (1995) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(95)80020-4 · Cited by 55 · see citing works
Cardiac malformations in spontaneous abortions
Gerlis, L. M. (1985) · International Journal of Cardiology · doi:10.1016/0167-5273(85)90170-6 · Cited by 49 · see citing works
Diagnosis and prognosis of fetuses with double outlet right ventricle
Kim, N., Friedberg, M. K., & Silverman, N. H. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1500 · Cited by 49 · see citing works
Distribution of congenital heart malformations in an autopsied child population
Šamánek, M., Goetzová, J., & Benesová, D. (1985) · International Journal of Cardiology · doi:10.1016/0167-5273(85)90214-1 · Cited by 47 · see citing works
Self-citationCongenital absence of aortic and pulmonary valve in a fetus with severe heart failure.
Marek, J., Skovranek, J., & Povýšilová, V. (1996) · Heart · doi:10.1136/hrt.75.1.98 · Cited by 33 · see citing works
Self-citationVogel, M., Sharland, G. K., McElhinney, D. B., Zidere, V., Simpson, J. M., Miller, O., & Allan, L. D. (2009) · Cardiology in the Young · doi:10.1017/s1047951109990655 · Cited by 30 · see citing works
Prenatal diagnosis of structural heart disease: does it make a difference to survival?
Sullivan, I. D. (2002) · Heart · doi:10.1136/heart.87.5.405 · Cited by 22 · see citing works
Causes of death in neonates born with a heart malformation
Šamánek, M., Goetzová, J., & Benesová, D. (1986) · International Journal of Cardiology · doi:10.1016/0167-5273(86)90200-7 · Cited by 20 · see citing works
Self-citationInfants with critical heart disease in a territory with centralized care
Šamánek, M., & Voříšková, M. (1987) · International Journal of Cardiology · doi:10.1016/0167-5273(87)90272-5 · Cited by 11 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Donofrio, M. T., Moon-Grady, A. J., Hornberger, L. K., Copel, J. A., Sklansky, M. S., Abuhamad, A., Cuneo, B. F., Huhta, J. C., Jonas, R. A., Krishnan, A., et al. (2014) · Circulation · doi:10.1161/01.cir.0000437597.44550.5d · Cited by 1,275 · see citing works
Prenatal detection of congenital heart disease—results of a national screening programme
van Velzen, C., Clur, S., Rijlaarsdam, M., Bax, C., Pajkrt, E., Heymans, M., Bekker, M., Hruda, J., de Groot, C., Blom, N., et al. (2016) · BJOG: An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.13274 · Cited by 240 · see citing works
van Velzen, C. L., Ket, J. C. F., van de Ven, P. M., Blom, N. A., & Haak, M. C. (2018) · International Journal of Gynecology & Obstetrics · doi:10.1002/ijgo.12373 · Cited by 115 · see citing works
Prenatal detection of transposition of the great arteries reduces mortality and morbidity
van Velzen, C. L., Haak, M. C., Reijnders, G., Rijlaarsdam, M. E. B., Bax, C. J., Pajkrt, E., Hruda, J., Galindo‐Garre, F., Bilardo, C. M., de Groot, C. J. M., et al. (2015) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.14689 · Cited by 97 · see citing works
Escobar-Diaz, M. C., Freud, L. R., Bueno, A., Brown, D. W., Friedman, K. G., Schidlow, D., Emani, S., Del Nido, P. J., & Tworetzky, W. (2015) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.14751 · Cited by 73 · see citing works
Nagata, H., Glick, L., Lougheed, J., Grattan, M., Mondal, T., Thakur, V., Schwartz, S. M., & Jaeggi, E. (2020) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2020.01.010 · Cited by 46 · see citing works
Everwijn, S. M. P., van Nisselrooij, A. E. L., Rozendaal, L., Clur, S. B., Pajkrt, E., Hruda, J., Linskens, I. H., van Lith, J. M., Blom, N. A., & Haak, M. C. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5347 · Cited by 33 · see citing works
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review