Risk factors in the medical history of pregnant women undergoing congenital heart defect prenatal screening

Czech version

Authors: J. Pavlíček ¹; T. Gruszka ¹; L. Jabůrek ²
Authors‘ workplace: Oddělení dětské a prenatální kardiologie FN Ostrava, primář MUDr. T. Gruszka ¹; Porodnicko-gynekologická klinika FN a LF UP Olomouc, přednosta prof. MUDr. R. Pilka, Ph. D. ²
Published in: Ceska Gynekol 2011; 76(5): 386-392

Overview

Aims:
Evaluation of the congenital heart defects (CHDs) incidence and their prenatal detection rate in the Moravian-Silesian region. Presentation of fetal echocardiography as a screening method. Investigation of the relationship between risk factor and congenital heart defects.

Methodology:
Long-term study between 1999–2009. Overall evaluation of CHDs incidence and their follow-up and analysis of their link to possible risk factors. The data were collected from medical notes of the gynecologist and pediatric cardiologist in the region. Fetal echocardiography was performed as a primary screening during the second term of pregnancy. A number of 22 43 pregnant women were included in the study. When any pregnancy pathology detected, more detailed examination followed (extracardial diseases, chromosomal aberrations).

Results:
In the observed period, there were a total of 453 significant CHD (3.55/1000 births). In prenatal phase 208 CHDs (45.9%) were diagnosed. At least one risk factor was mentioned in 15.9 % of the screened families. When compared with the group without and with any risk factor, the difference is significant (χ²=7.28, p<0.0001). Mothers younger than 35 were compared with those aged 35 and older and the difference in values was not significant. However, generally, the probability of CHDs grow with age (GLM, z=2.468, p=0.013).

Conclusions:
Prenatal detection of CHDs has the highest success rate as a rutine screening method during the second trimester of pregnancy. We confirmed the existence of a higher occurrence of the CHD in the group of pregnant women with a history of risk factors in comparison with the group without such a history. The risk families should be offered a detailed examination by paediatric cardiologist skilled in fetal echocardiography. Heart defects are the most common morphology anomalies, mostly occuring as an isolated issue.

Key words:
congenital heart defect, fetal echocardiography, risk factor.

Sources

1. Acar, P., Dulac, Y., Taktak, A., Abadir, S. Real-time three-dimensional fetal echocardiography using matrix probe. Prenat Diagn, 2005, 25, 5, p. 370-375.

2. Baschaat, AA., Gembruch, U., Knöpfle, G., et al. First- trimester fetal heart block: a marker for cardiac anomaly. Ultrasound Obstet Gynecol, 1999, 14, 5, p. 311-314.

3. Becker, R., Wegner, RD. Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan. Ultrasound Obstet Gynecol, 2006, 27, 6, p. 613-618.

4. Baspinar, O., Karaaslan, S., Oran, B., et al. Prevalence and distribution of children with congenital heart diseases in the central Anatolian region, Turkey. Turk J Pediatr, 2006, 48, 3, p. 237-243.

5. Bolisetty, S., Daftary, A., Ewald, D., et al. Congenital heart defects in Central Australia. Med J Aust, 2004, 180, 12, p. 614‑617.

6. Brucato, A. Prevention of congenital heart block in children of SSA-positive mothers. Rheumatology, 2008, 47, Suppl 3, iii35‑iii37.

7. Brucato, A., Frassi, M., Franceschini, F., et al. Risk of congenital complete heart block in newborns of mothers with anti-Ro/SSA antibodies detected by counterimmunoelectrophoresis: a prospective study of 100 women. Arthritis Rheum, 2001, 44, p. 1832-1835.

8. Brucato, A., Jonzon, A., Friedman, D., et al. Proposal for new definitive of congenital complete atrioventricular block. Lupus, 2003, 12, p. 427-435.

9. Buyon, JP., Hiebert, R., Copel, J., et al. Autoimmune-associated congenital heart block: demographics, mortality, morbidity and recurrence rates obtained from a national neonatal lupus registry. J Am Coll Cardiol, 1998, 31, p. 1658-1666.

10. Carvalho, JS. Fetal heart scanning in the first trimester. Prenat Diagn, 2004, 24, 13, p. 1060-1067.

11. Carvalho, JS. Early prenatal diagnosis of major congenital heart defects. Cuee Opin Obstet Gynecol, 2001, 13, 2, p. 155-159.

12. Clur, SA., Mathijssen, IB., Pajkrt, E., et al. Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre. Prenat Diagn, 2008, 28, 4, p. 347‑354.

13. Cohen, L., Mangers, K., Grobman, WA., et al. Three-dimensional fast acquisition with sonographically based volume computer-aided analysis for paging of the fetal heart at 18 to 22 weeks’ gestation. J Ultrasound Med, 2010, 29, 5, p. 751-757.

14. Comas, GC., Galindo, A., Martinez, JM., et al. Early prenatal diagnosis of major cardiac anomalies in a high-risk population. Prenat Diagn, 2002, 22, 7, p. 586-593.

15. Costedoat-Chalumeau, N., Amoura, Z., Le Thi Hong, D., et al. Question about dexamethasone use for the prevention of anti-SSA related congenital heart block. Ann Rheum Dis, 2003, 62, 10, p. 1010-1012.

16. Cullen, MT., Green, J., Whetham, J., et al. Transvaginal ultrasonographic detection of congenital anomalies in the first trimester. Am J Obstet Gynecol, 1990, 163, 2, p. 466-476.

17. Friedman, DM., Llanos, C., Izmirly, PM., et al. Evaluation of fetuses in a study of intravenous imunoglobulin as preventive therapy for congenital heart block: Results of a multicenter, prospective, open-label clinical trial. Arthritis Rheum, 2010, 62, 4, p. 1138-1146.

18. Friedman, DM., Kim, MY., Copel, JA., et al. Prospective evaluation of fetuses in the PR interval with autoimmune-associated congenital heart block followed in the PR interval and dexamethasone evaluation (PRIDE) study. J Am Cardiol, 2009, 103, p. 1102-1106.

19. Gardiner, H. Fetal echocardiography: 20 years of progress. Heart, 2001, 86 (Suppl.), ii12-ii22.

20. Geipel, A., Willruth, A., Vieten, J., et al. Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester. Ultrasound Obstet Gynecol, 2010, 35, 5, p. 535-539.

21. Gill, HK., Splitt, M., Sharland, GK., et al. Patterns of recurrence of congenital heart disease. J Am Coll Cardiol, 2003, 42, p. 923-929.

22. Goncalves, LF., Lee, W., Espinoza, J., Romero, R. Examination of the fetal heart by four-dimensional (4D) ultrasound with spatio temporal image correlation (STIC). Ultrasound Obstet Gynecol, 2006, 27, p. 336-348.

23. Haak, MC., Vugt, JM. Echocardiography in early pregnancy: review of literature. J Ultrasound Med, 2003, 22, 3, p. 271-280.

24. Homola, J., Satrapa, V. Transvaginální echokardiografie v časné diagnostice vrozených srdečních vad plodu. Čes-slov Pediat, 1992, 47, 6, s. 350-352.

25. Jaeggi, ET., Fouron, JD., Silverman, ED., et al. Transplacental fetal treatment improves the outcome of prenatally diagnosed complete atrioventricular block without structural heart disease. Circulation, 2004, 110, p. 1542-1548.

26. Jíčínská, H. Prenatální kardiologie v České republice. Čes-slov Pediat, 2010, 65, 11, s. 623-625.

27. Kagan, KO., Wright, D., Baker, A., et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol, 2008, 31, 6, p. 618-624.

28. Lombardi, CM., Bellotti, M., Fesslova, V., Cappellini, A. Fetal echocardiography at the time of the nuchal translucency scan. Ultrasound Obstet Gynecol, 2007, 29, 3, p. 249-257.

29. Mayer-Wittkopf, M., Hofbeck, M. Two- and free-dimensional echocardiographic analysis of congenital heart disease in the fetus. Herz, 2003, 28, 3, p. 240-249.

30. Maeno, Y., Himeno, W., Saio, A., et al. Clinical course of fetal congenital atrioventricular block in Japanese population: a multicentre experience. Heart, 2005, 91, p. 1075-1106.

31. Marek, J. Pediatrická a prenatální echokardiografie. Praha: Triton, 2003.

32. Muller, MA., Clur, SA., Timmerman, E., Bilardo, CM. Nuchal translucency measurement and congenital heart defects: modest association in low-risk pregnancies. Prenat Diagn, 2007, 27, 2, p. 164-169.

33. Nicolaides, KH. Nuchal translucency and other first trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol, 2004, 191, 1, p. 45-67.

34. R Development Core Team (2010). R: A language and environment for statistical computing. R Foundation for Statistical Computing. Vienna, Austria.

35. Rizzo, G., Capponi, A., Muscatello, A., et al. Examination of the fetal heart by four-dimensional ultrasound with spatiotemporal image correlation during second-trimester examination: the free-steps technice. Fetal Diagn Ther, 2008, 24, 2, p. 126-131.

36. Smrcek, JM., Berg, CH., Geipel, A., et al. Early fetal echocardiography. J Ultrasound Med, 2006, 25, p. 173-182.

37. Smrcek, JM., Berg, CH., Geipel, A., et al. Detection rate of early fetal echocardiography and in utero development of congenital heart defects. J Ultrasound Med, 2006, 25, p. 187-196.

38. Stoll, C., Alembik, Y., Roth, MP., et al. Risk factors in congenital heart disease. Eur J Epidemiol, 1989, 5, 3, p. 382-391.

39. Šamánek, M., Slavík, Z., Zbořilová, B., et al. Prevalence, treatment, and outcome of heart disease in live-born children: A prospective analysis od 91,823 live born children. Pediat Cardiol, 1989, 10, 4, p. 205-211.

40. Šípek, A., Gregor, V., Šípek, A. Jr., et al. Incidence of congenital heart defects in the Czech Republic - current data. Čes Gynek, 2010, 75, 3, p. 221-242.

41. Škovránek, J., Marek, J., Povýšilová, V. Prenatální kardiologie. Čes-Slov Pediat, 1997, 52, 6, s. 332-338.

42. Tomek, V., Marek, J., Jíčínská, H., Škovránek, J. Fetal cardiology in the Czech Republic: Current management of prenatally diagnosed congenital heart disease and arrhythmias. Physiol Res, 2009, 58 (Suppl. 2), p. S159-S166.

43. Thangaroopan, M., Wald, RM., Silversides, CK., et al. Incremental diagnostic yield of pediatric cardiac assessment after fetal echocardiography in the offspring of women with congenital heart disease: A prospective study. Pediatrics, 2008, 121, 3, p. 660-665.

44. Weiner, Z., Lorber, A., Shalev, E. Diagnosis of congenital cardiac defects between 11 and 14 weeks’ gestation in high-risk patients. J Ultrasound Med, 2002, 21, 1, p. 23-29.

45. Wessels, MW., Willems, PJ. Genetic factors in non-syndromic congenital heart malformation. Clin Genet, 2010, 78, p. 103-123.

46. Whittemore, R., Wells, JA., Castellsauge, X. A second-generation study of 427 probands with congenital heart defects and their 837 children. J Am Coll Cardiol, 1994, 23, p. 1459‑1467.