Skip to main navigation menu Skip to main content Skip to site footer

Original article

Vol. 144 No. 4950 (2014)

Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study

  • Marie-Claude Rossier
  • Yvan Mivelaz
  • Marie-Claude Addor
  • Nicole Sekarski
  • Erik Jan Meijboom
  • Yvan Vial
Cite this as:
Swiss Med Wkly. 2014;144:w14068


AIMS: This study evaluated the evolution of the prenatal diagnosis of congenital heart disease (CHD) between 2003 and 2008 and its repercussion for the CHD prevalence rate at birth in a well-defined population (Canton of Vaud, Switzerland).

METHODS AND RESULTS: All 572 cases of CHD reported in the Eurocat Registry of Vaud-Switzerland between 1.5.2003 and 31.12.2008 were analysed and compared with the cases in our clinical database. CHD cases were divided into five different groups according to heart disease severity. The prenatal detection rates increased significantly between 2003 and 2008, with a mean detection rate of 25.2%. There was a significantly higher rate of prenatal diagnosis in the first four groups of CHD severity, with the highest detection rate (87.5%) found in the group with the most severe CHD (group 1). In this group, 85.7% of cases resulted in a termination of pregnancy, and there was a consequent 75% reduction in the prevalence of severe major cardiac malformation at birth. Detection rates were 66% in group 2, 68.6% in group 3, and the lowest in groups 4 and 5, with rates of 25.9% and 12.9%, respectively.

CONCLUSION: This study shows that the prenatal detection rate for CHD increased in a well-defined population over the study period. Prenatal diagnosis thus has had a major impact on patients with the most severe types of CHD and has resulted in a significant reduction in severe CHD at birth.


  1. Allan LD, Sharland GK, Milburn A, Lockhart SM, Groves AM, Anderson RH, et al. Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus. J Am Coll Cardiol. 1994;23:1452–8.
  2. Bull C. Current and potential impact of fetal diagnosis on prevalence and spectrum of serious congenital heart disease at term in the UK. British Paediatric Cardiac Association. Lancet. 1999;354:1242–7.
  3. Garne E, Stoll C, Clementi M. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries. Ultrasound Obstet Gynecol. 2001;17:386–91.
  4. Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181:446–54.
  5. Dolk H, Loane M, Garne E. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation. 2011;123:841–9.
  6. Allan LD, Apfel HD, Printz BF. Outcome after prenatal diagnosis of the hypoplastic left heart syndrome. Heart. 1998;79:371–3.
  7. Allan LD, Cook A, Sullivan I, Sharland GK. Hypoplastic left heart syndrome: effects of fetal echocardiography on birth prevalence. Lancet. 1991;337:959–61.
  8. Carvalho JS, Mavrides E, Shinebourne EA, Campbell S, Thilaganathan B. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart. 2002;88:387–91.
  9. EUROCAT. EUROCAT Guide 1.3. Instructions for the Registration and Surveillance of Congenital Anomalies. Available from: (28 August 2013)
  10. EUROCAT. Member Registries. Available from: (15 August 2013)
  11. van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol. 2011;58:2241–7.
  12. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890–900.
  13. Ullmo S, Vial Y, Di Bernardo S, Roth-Kleiner M, Mivelaz Y, Sekarski N, et al. Pathologic ventricular hypertrophy in the offspring of diabetic mothers: a retrospective study. Eur Heart J. 2007;28:1319–25.
  14. Hunter S, Heads A, Wyllie J, Robson S. Prenatal diagnosis of congenital heart disease in the northern region of England: benefits of a training programme for obstetric ultrasonographers. Heart. 2000;84:294–8.
  15. McBrien A, Sands A, Craig B, Dornan J, Casey F. Impact of a regional training program in fetal echocardiography for sonographers on the antenatal detection of major congenital heart disease. Ultrasound Obstet Gynecol. 2010;36:279–84.
  16. Ogge G, Gaglioti P, Maccanti S, Faggiano F, Todros T. Prenatal screening for congenital heart disease with four-chamber and outflow-tract views: a multicenter study. Ultrasound Obstet Gynecol. 2006;28:779–84.
  17. Marek J, Tomek V, Skovranek J, Povysilova V, Samanek M. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21–year experience. Heart. 2010;97:124–30.
  18. McBrien A, Sands A, Craig B, Dornan J, Casey F. Major congenital heart disease: antenatal detection, patient characteristics and outcomes. J Matern Fetal Neonatal Med. 2009;22:101–5.
  19. Verheijen PM, Lisowski LA, Plantinga RF, Hitchcock JF, Bennink GB, Stoutenbeek P, et al. Prenatal diagnosis of the fetus with hypoplastic left heart syndrome management and outcome. Herz. 2003;28:250–6.
  20. Khoshnood B, De Vigan C, Vodovar V, Goujard J, Lhomme A, Bonnet D, et al. Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France, 1983–2000: a population-based evaluation. Pediatrics. 2005;115:95–101.
  21. Coon PD, Rychik J, Novello RT, Ro PS, Gaynor JW, Spray TL. Thrombus formation after the Fontan operation. Ann Thorac Surg. 2001;71:1990–4.
  22. Dadlani GH, Braley K, Perez-Colon E, Stapleton G, Crawford M, Turpin D, et al. Long-term management of patients with hypoplastic left heart syndrome: the diagnostic approach at All Children's Hospital. Cardiol Young. 2011;21(Suppl 2):80–7.
  23. Diller GP, Giardini A, Dimopoulos K, Gargiulo G, Muller J, Derrick G, et al. Predictors of morbidity and mortality in contemporary Fontan patients: results from a multicenter study including cardiopulmonary exercise testing in 321 patients. Eur Heart J. 2010;31:3073–83.
  24. Feinstein JA, Benson DW, Dubin AM, Cohen MS, Maxey DM, Mahle WT, et al. Hypoplastic left heart syndrome: current considerations and expectations. J Am Coll Cardiol. 2012;59:S1–42.
  25. Goldberg CS, Mussatto K, Licht D, Wernovsky G. Neurodevelopment and quality of life for children with hypoplastic left heart syndrome: current knowns and unknowns. Cardiol Young. 2011;21(Suppl 2):88–92.
  26. Idorn L, Olsen M, Jensen AS, Juul K, Reimers JI, Sorensen K, et al. Univentricular hearts in Denmark 1977 to 2009: Incidence and survival. Int J Cardiol. 2013;167:1311–6.
  27. Mondesert B, Marcotte F, Mongeon FP, Dore A, Mercier LA, Ibrahim R, et al. Fontan circulation: success or failure? Can J Cardiol. 2013;29:811–20.
  28. Motoki N, Ohuchi H, Miyazaki A, Yamada O. Clinical profiles of adult patients with single ventricular physiology. Circ J. 2009;73:1711–6.
  29. Puosi R, Korkman M, Sarajuuri A, Jokinen E, Mildh L, Mattila I, et al. Neurocognitive development and behavioral outcome of 2–year-old children with univentricular heart. J Int Neuropsychol Soc. 2011;17:1094–103.
  30. Sarajuuri A, Jokinen E, Mildh L, Tujulin AM, Mattila I, Valanne L, et al. Neurodevelopmental burden at age 5 years in patients with univentricular heart. Pediatrics. 2012;130:e1636–46.
  31. Sugimoto A, Ota N, Ibuki K, Miyakoshi C, Murata M, Tosaka Y, et al. Risk factors for adverse neurocognitive outcomes in school-aged patients after the Fontan operation. Eur J Cardiothorac Surg. 2013;44:454–61.
  32. van den Bosch AE, Roos-Hesselink JW, Van Domburg R, Bogers AJ, Simoons ML, Meijboom FJ. Long-term outcome and quality of life in adult patients after the Fontan operation. Am J Cardiol. 2004;93:1141–5.
  33. Walker HA, Gatzoulis MA. Prophylactic anticoagulation following the Fontan operation. Heart. 2005;91:854–6.
  34. Hutter PA, Kreb DL, Mantel SF, Hitchcock JF, Meijboom EJ, Bennink GB. Twenty-five years' experience with the arterial switch operation. J Thorac Cardiovasc Surg. 2002;124:790–797.
  35. Verheijen PM, Lisowski LA, Wassink S, Visser GH, Meijboom EJ. Preoperative acidosis and infant development following surgery for congenital heart disease. Herz. 2010;35:358–63.
  36. Verheijen PM, Lisowski LA, Stoutenbeek P, Hitchcock JF, Brenner JI, Copel JA, et al. Prenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient. J Thorac Cardiovasc Surg. 2001;121:798–803.
  37. Verheijen PM, Lisowski LA, Stoutenbeek P, Hitchcock JF, Bennink GB, Meijboom EJ. Lactacidosis in the neonate is minimized by prenatal detection of congenital heart disease. Ultrasound Obstet Gynecol. 2002;19:552–5.
  38. Bonnet D, Coltri A, Butera G, Fermont L, Le Bidois J, Kachaner J, et al. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation. 1999;99:916–8.
  39. Mogra R, Zidere V, Allan LD. Prenatally detectable congenital heart defects in fetuses with Down syndrome. Ultrasound Obstet Gynecol. 2011;38:320–4.
  40. Germanakis I, Sifakis S. The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. Pediatr Cardiol. 2006;27:465–72.

Most read articles by the same author(s)