Development of prenatal diagnostics of congenital heart defects, profit of standardized scanning planes
Authors:
J. Pavlíček 1; E. Klásková 2; E. Doležálková 3; D. Matura 3; R. Špaček 3; T. Gruszka 1; S. Polanská 1; M. Procházka 4
Authors place of work:
Oddělení dětské a prenatální kardiologie, Klinika dětského lékařství FN a LF OU, Ostrava, přednosta doc. MUDr. M. Hladík, Ph. D.
1; Dětská klinika FN a LF UP, Olomouc, přednosta prof. MUDr. D. Pospíšilová, Ph. D.
2; Gynekologicko-porodnická klinika FN a LF OU, Ostrava, přednosta doc. MUDr. O. Šimetka, Ph. D., MBA
3; Ústav lékařské genetiky FN a LF UP, Olomouc, přednosta prof. MUDr. M. Procházka, Ph. D.
4
Published in the journal:
Ceska Gynekol 2018; 83(1): 17-23
Summary
Objective:
To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes.
Setting:
Department of Pediatrics, University Hospital Ostrava.
Design:
Retrospective study.
Methods:
Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016. The knowledge of all significant heart defects in the region, processing of data from genetic reporting, further examination of all prenatal pathologies by a pediatric cardiologist, presence of a pediatric cardiologist at all autopsies, with a precise description of the defect, birth of a pathological new-born at a specialized centre. Analysis of detected CHDs was performed in relation to the ultrasound scans used.
Results:
During the monitored 17-year period, a total of 748 (3.8 cases per 1,000 foetuses) of prenatally identified and postnatally significant CHDs were observed in the total population of 198,300 foetuses. There were 53% (393/748) CHDs detected prenatally and 47% (355/748) of cases were not prenatally recognized. The effectiveness of CHD screening has improved progressively, from the initial 10% up to the current 74%. The best results were obtained using the basic four-chamber (4CH) scan; the results in practice gradually decreased, from the basic 4CH projection to the aortic arch.
Conclusion:
The effectiveness of prenatal detection of congenital heart defects gradually improves, namely in cases of hypoplasia and significant ventricular anomalies, with up to 100% prenatally detected cases in the past three years. The level of detection statistically decreases, from the four-chamber projection to out-flow tracts, great arteries and the aortic arch. Congenital heart defect is generally well detectable prenatally, and is usually observed as an isolated anomaly. The most important factors include a precise diagnosis, overall examination of the pregnancy and correct counselling provided for the affected family.
Keywords:
congenital heart defect, fetal echocardiography, screening, ultrasound scan
Zdroje
1. Allan, L. Antenatal diagnosis of heart disease. Heart, 2000, 83, 3, p. 367–367.
2. Baspinar, O., Karaaslan, S., Oran, B., Baysal, T. Prevalence and distribution of children with congenital heart diseases in the central Anatolian region, Turkey. Turk J Pediatr, 2006, 48, 3, p. 237–243.
3. Bellotti, M., Fesslova, V., De Gasperi, C., et al. Reliability of the first–trimester cardiac scan by ultrasound-trained obstetricians with high-frequency transabdominal probes in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol, 2010, 36, 3, p. 272–278.
4. Bolisetty, S., Daftary, A., Ewals, D., et al. Congenital heart defects in Central Australia. Med J Aust, 2004, 180, 12, p. 614–617.
5. Brick, DH., Allan, LD. Outcome of prenatally diagnosed congenital heart disease: an update. Pediatr Cardiol, 2002, 23, 4, p. 449–453.
6. Campbell, S., Allan, L., Benacerraf, B., et al. Isolated major congenital heart disease. Ultrasound Obstet Gynecol, 2001, 17, p. 370–379.
7. Carvalho, JS., Mavrides, E., Shinebourne, EA., et al. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart, 2002, 88, 4, p. 387–391.
8. Comas Gabriel, C., Galindo, A., Martinez, JM., et al. Early prenatal diagnosis of major cardiac anomalies in a high risk population. Prenatal Diag, 2002, 22, 7, p. 586–593.
9. Comstock, CH. What to expect from routine midtrimester screening for congenital heart disease. In Seminars in perinatology, 2000, 24, 5, p. 331–342.
10. Dadvand, P., Rankin, J., Shirley, MD., et al. Descriptive epidemiology of congenital heart disease in Northern England. Paediatr Perinatal Epidemiol, 2009, 23, 1, p. 58–65.
11. 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, 5, p. 386–391.
12. Hoffman, JI., Kaplan, S. The incidence of congenital heart disease. JACC, 2002, 39, 12, p. 1890–1900.
13. Hrtánková, M., Siváková J., Šumichrastová, P., et al. Princípy a limity klinických metód diagnostiky fetálnej hypoxie. Čes Gynek, 2014, 79, 4, s. 326–331.
14. Chaoui, R., McEwing, R. Three cross sectional planes for fetal color Doppler echocardiography. Ultrasound Obstet Gynecol, 2003, 21, 1, p. 81–93.
15. Chew, C., Halliday, JL., Riley, MM., Penny, DJ. Population based study of antenatal detection of congenital heart disease by ultrasound examination. Ultrasound Obstet Gynecol, 2007, 29, 6, p. 619–624.
16. Chu, C., Yan, Y., Ren, Y., et al. Prenatal diagnosis of congenital heart diseases by fetal echocardiography in second trimester: a Chinese multicenter study. Acta Obstet Gynecol Scand, 2017, 96, 4, p. 454–463.
17. International Society of Ultrasound in Obstetrics & Gynecology. Cardiac screening examination of the fetus: guidelines for performing the ‘basic‘ and ‘extended basic‘ cardiac scan. Ultrasound Obstet Gynecol, 2006, 27, 1, p. 107.
18. Jaeggi, ET., Sholler, GF., Jones, ODH., Cooper, SG. Comparative analysis of pattern, management and outcome of pre versus postnatally diagnosed major congenital heart disease: a population based study. Ultrasound Obstet Gynecol, 2001, 17, 5, p. 380–385.
19. Jíčínská, H. Prenatální kardiologie v České republice. Čes.-Slov. Pediat, 2010, 65, 11, s. 623–625.
20. Khoshnood, B., De Vigan, C., Vodovar, V., 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, 1, p. 95–101.
21. Klikarová, J., Šnajbergová, K., Měchurová, A., et al. Syndrom intrauterinního úmrtí plodu: analýza souboru za období 2008–2012 v Ústavu pro péči o matku dítě. Čes Gynek, 2014, 79, 2, s. 120–127.
22. Lubušký, M., Krofta, L., Vlk, R. Pravidelná ultrazvuková vyšetření v průběhu prenatální péče – doporučený postup. Čes Gynek, 2013, 78, Suppl., s. 63–64.
23. Lubušký, M., Krofta, L., Vlk, R., Marková I. Podrobné hodnocení morfologie plodu při ultrazvukovém vyšetření ve 20.–22. týdnu těhotenství – doporučený postup. Čes Gynek, 2013, 78, 4, s. 390.
24. Marek, J., Tomek, V., Škovránek, J., et al. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart, 2011, 97, 2, p. 124–130.
25. Niewiadomska-Jarosik, K., Stanczyk, J., Janiak, K., et al. Prenatal diagnosis and follow-up of 23 cases of cardiac tumors. Prenat Diagn, 2010, 30, 9, p. 882–887.
26. Simpson, JM. Impact of fetal echocardiography. Ann Pediatr Cardiol, 2009, 2, 1, p. 41–50.
27. Song, MS., Hu, A., Dyhamenahali, U., et al. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses. Ultrasound Obstet Gynecol, 2009, 33, 5, p. 552–559.
28. Stoll, C., Dott, B., Alembik, Y., De Geeter, B. Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination. In Annales de genetique, 2002, 45, 1, p. 21–27.
29. 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.
30. Šípek, A., Gregor, V., Šípek, A. Jr., et al. Vrozené vady v České republice v období 1994–2007. Čes Gynek, 2009, 74, 1 s. 31–44.
31. Šípek, A., Gregor, V., Šípek, A. Jr., et al. Incidence vrozených srdečních vad v české republice – aktuální data. Čes Gynek, 2010, 75, 3, s. 221–242.
32. 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. 159–166.
33. van der Linde, D., Konings, EE., Slager, M., et al. Birth prevalence of congenital heart disease worldwide. JACC, 2011, 58, 21, p. 2241–2247.
34. Wessels, MW., Willems, PJ. Genetic factors in non-syndromic congenital heart malformation. Clin Genet, 2010, 78, p. 103–123.
35. Yu, ZB., Han, SP., Guo, XR. Meta-analysis of the value of fetal echocardiography for the prenatal diagnosis of congenital heart disease. Chin J Evid Based Pediatr, 2009, 4, 4, p. 330–339.
36. Zhu, RY., Gui, YH., Li, LC., et al. Fetal echocardiography in diagnosing congenital heart disease prenatally: a multicenter clinical study. Chin J Pediatr, 2006, 44, 10, p. 764–769.
Štítky
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicineČlánok vyšiel v časopise
Czech Gynaecology
2018 Číslo 1
Najčítanejšie v tomto čísle
- Various approaches of endometrial preparation for frozen-thawed embryo transfer
- Antibiotic therapy in pregnancy
- Vein of Galen aneurysmal malformation
- Medroxyprogesteron acetate use to block LH surge in oocyte donor stimulation