Congenital heart diseases detected by fetal echocardiography and the prevalence: A single center experience

Öz

Aim: Fetal echocardiography is an effective screening tool for the detection of cardiac anomalies. The aim of this study is to evaluate risk groups of pregnant women, to determine congenital heart diseases in each group and to find the prevalence of cardiac anomalies in our region. Materials and Methods: All pregnant women referred for fetal echocardiography from January 2023 and September 2024 were included in the study. Results: A total of 387 pregnant women underwent fetal echocardiography of which 136 were low risk group and 251 were high risk group. The mean ages of patients were 27.43±1.37 and 28.54±5.45 years, respectively. Maternal diabetes (13.17%), dysrhythmia (5.42%) and history of previous child or fetus with extracardiac anomaly (8.53%) were the most common reasons for referral in the high-risk group. While ventricular septal defect was the most detected congenital heart disease in low risk group; hypoplastic left heart syndrome (1.20%) and pulmonary atresia/hypoplasia (1.20%) were the most detected cardiac anomalies in high risk group. The prevalence of congenital heart diseases in our series was found to be 2.94% and 6.37% in the low-risk and high-risk pregnancies respectively while the overall prevalence was 5.16%. Conclusion: Fetal echocardiography is a very useful technique when performed by experienced individuals with sufficient time. Dedicated cardiac screening should be part of the routine anomaly scan. Also, detailed fetal echocardiography should be performed in all pregnant women who were in low or high risk groups.

Anahtar Kelimeler

• Congenital heart diseases
• fetal echocardiography
• referral risk group
• prevalence.

Fetal ekokardiyografi ile tespit edilen doğumsal kalp hastalıkları ve prevelansı: Tek merkez deneyimi

Öz

Amaç: Fetal ekokardiyografi, kardiyak anomalilerin tespiti için etkili bir tarama aracıdır. Bu çalışmanın amacı, gebe kadınların risk gruplarını değerlendirmek, her gruptaki konjenital kalp hastalıklarını belirlemek ve bölgemizde kardiyak anomalilerin prevalansını bulmaktır. Gereç ve Yöntem: Ocak 2023 ve Eylül 2024 tarihleri arasında fetal ekokardiyografi için sevk edilen tüm gebe kadınlar çalışmaya dahil edildi. Bulgular: Toplam 387 gebe kadına fetal ekokardiyografi uygulandı, bunlardan 136'sı düşük risk grubunda ve 251'i yüksek risk grubundaydı. Hastaların ortalama yaşları sırasıyla 27,43±1,37 ve 28,54±5,45 yıldı. Maternal diyabet (%13,17), disritmi (%5,42) ve ekstrakardiyak anomalisi olan önceki çocuk veya fetüs öyküsü (%8,53) yüksek risk grubunda en sık sevk nedenleriydi. Ventriküler septal defekt düşük risk grubunda en sık tespit edilen doğumsal kalp hastalığı iken; hipoplastik sol kalp sendromu (%1,20) ve pulmoner atrezi/hipoplazi (%1,20) yüksek risk grubunda en sık tespit edilen kardiyak anomalilerdi. Serimizde doğumsal kalp hastalıklarının prevalansı düşük riskli ve yüksek riskli gebeliklerde sırasıyla %2,94 ve %6,37 olarak bulunurken, genel prevalans %5,16 idi. Sonuç: Fetal ekokardiyografi, yeterli zamana sahip deneyimli kişiler tarafından yapıldığında çok yararlı bir tekniktir. Özel kardiyak tarama rutin anomali taramasının bir parçası olmalıdır. Ayrıca, düşük veya yüksek risk grubunda olan tüm gebe kadınlara ayrıntılı fetal ekokardiyografi yapılmalıdır.

Anahtar Kelimeler

• Doğumsal kalp hastalıkları
• fetal ekokardiyografi
• sevk risk grubu
• prevelans.

Kaynakça

1. 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. 2. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890‑900.
3. 3. Bernier PL, Stefanescu A, Samoukovic G, Tchervenkov CI. The challenge of congenital heart disease worldwide: epidemiologic and demographic facts. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2010;13(1):26-34.
4. 4. 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;115:95‑101.
5. 5. Mahle WT, Clancy RR, McGaurn SP, Goin JE, Clark BJ. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics 2001;107:1277‑82.
6. 6. Simpson JM. Fetal arrhythmias. Ultrasound Obstet Gynecol 2006;27:599‑606.
7. 7. Donofrio MT, Moon‑Grady AJ, Hornberger LK, et al. Diagnosis and treatment of fetal cardiac disease: A scientific statement from the American Heart Association. Circulation 2014;129:2183‑242.
8. 8. Rasiah SV, Publicover M, Ewer AK, Khan KS, Kilby MD, Zamora J. A systematic review of the accuracy of first-trimester ultrasound examination for detecting major congenital heart disease. Ultrasound Obstet Gynecol 2006;28:110–6.

9. 9. Liu H, Zhou J, Feng QL, et al. Fetal echocardiography for congenital heart disease diagnosis: a meta-analysis, power analysis and missing data analysis. Eur J Prev Cardiol 2015;22:1531–47.
10. 10. Zhang YF, Zeng XL, Zhao EF, Lu HW. Diagnostic Value of fetal echocardiography for congenital heart disease: a systematic review and meta-analysis. Medicine (Baltimore) 2015;94:e1759.
11. 11. Yu D, Sui L, Zhang N. Performance of First Trimester Fetal Echocardiography in Diagnosing Fetal Heart Defects: Meta-analysis and Systematic Review. J Ultrasound Med. 2020;39(3):471-80.
12. 12. Donofrio MT, Moon-Grady AJ, Hornberger LK et al. American Heart Association Adults With Congenital Heart Disease Joint Committee of the Council on Cardiovascular Disease in the Young and Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and Council on Cardiovascular and Stroke Nursing. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation 2014;129(21):2183-242.
13. 13. Wright L, Stauffer N, Samai C, Oster M. Who should be referred? An evaluation of referral indications for fetal echocardiography in the detection of structural congenital heart disease. Pediatr Cardiol 2014;35:928-33.
14. 14. Özkutlu S, Ayabakan C, Karagöz T, et al. Prenatal echocardiographic diagnosis of congenital heart disease: comparison of past and current results. Turk J Pediatr 2005;47:232-8.
15. 15. Özkutlu S, Bostan OM, Deren O, et al. Prenatal echocardiographic diagnosis of cardiac right/left axis and malpositions according to standardized Cordes technique. Anadolu Kardiyol Derg 2011;11(2):131-6.
16. 16. Perri T, Cohen-Sacher B, Hod M, Berant M, Meizner I, Bar J. Risk factors for cardiac malformations detected by fetal echocardiography in a tertiary center. J Matern Fetal Neonatal Med 2005;17(2):123–8.
17. 17. Bhat NK, Dhar M, Kumar R, Patel A, Rawat A, Kalra BP. Prevalence and pattern of congenital heart disease in Uttarakhand, India. Indian J Pediatr. 2013;80(4):281-5.
18. 18. Shi H, Yang S, Liu Y, et al. Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease. PLoS One. 2015;10(6):e0128646.
19. 19. Hobbs CA, James SJ, Jernigan S, et al. Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions. Am J Obstet Gynecol. 2006;194(1):218-24.
20. 20. Wu MH, Chen HC, Lu CW, Wang JK, Huang SC, Huang SK. Prevalence of congenital heart disease at live birth in Taiwan. J Pediatr. 2010;156(5):782-5.
21. 21. Pradat P, Francannet C, Harris JA, Robert E. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations. Pediatr Cardiol. 2003;24(3):195-221.
22. 22. Mozumdar N, Rowland J, Pan S, Rajagopal H, Geiger MK, Srivastava S, Stern KWD. Diagnostic Accuracy of Fetal Echocardiography in Congenital Heart Disease. J Am Soc Echocardiogr. 2020;33(11):1384-90.
23. 23. Li M, Wang W, Yang X, et al. Evaluation of referral Indication for fetal echocardiography in Beijing. J Ultrasound Med 2008;27:1291.
24. 24. Vaidyanathan B, Kumar S, Sudhakar A, Kumar RK. Conotruncal anomalies in the fetus: Referral patterns and pregnancy outcomes in a dedicated fetal cardiology unit in South India. Ann Pediatr Cardiol 2013;6:15‑20.
25. 25. Özbarlas N, Erdem S, Küçükosmanoğlu O, et al. Prevalence and distribution of structural heart diseases in high and low risk pregnancies. Anadolu Kardiyol Derg 2011;11(2):125-30.
26. 26. Altın H. Evaluation of The Frequency and Types of Structural Heart Disease in Fetuses of Pregnant Women According to Risk Groups by Fetal Echocardiography. J Contemp Med 2021;11(6):905-11.
27. 27. Özkutlu S, Akça T, Kafali G, Beksaç S. The results of fetal echocardiography in a tertiary center and comparison of low- and high-risk pregnancies for fetal congenital heart defects. Anadolu Kardiyol Derg 2010;10(3):263-9.