Factors causing timely referral for fetal echocardiography in the final diagnosis of congenital heart malformations: A cross-sectional study
Background: Congenital heart disease (CHD) is one of the most frequently inherited illnesses associated with adverse outcomes.
Objective: This study aimed to determine the referral cause for fetal echocardiography in the final diagnosis of major CHD.
Materials and Methods: In this cross-sectional study, the data of 1772 pregnant women, referred to a diagnostic clinic during 2017-2020, were reviewed. Data were collected from participants on maternal age, gestational age, history of previous child’s heart disease, body mass, the order of birth of children (baby birth rank), type of woman’s disease, history of poor midwifery, and nuchal translucency (NT).
Results: Of the 1772 pregnant women, only 33 women (1.8%) had a fetus with CHD major. Abnormality in ultrasound (57.6%), history of abortion (36.4%), increased NT and gestational diabetes (18.2%) and gestational diabetes (18.2%) were identified as the most common referral reasons for fetal echocardiography in these women. Other reasons included a previous child with Down syndrome (12.1%), a previous child with heart disease (12.1%), a history of stillbirth (12.1%), hypothyroidism (12.1%), taking medication during the pregnancy period (9.0%), no underlying disease (9.0%), multiple pregnancies (6.0%), diagnosis with high-risk fetal heart disease (3.0%), highrisk combined aneuploidy screening test in the first trimester (3.0%), in vitro fertilization pregnancy (3.0%), and having a child with an intellectual disability (3.0%).
Conclusion: According to the results, it can be concluded that ultrasound abnormality, abortion, increased NT and gestational diabetes are the most important factors for referring pregnant women for fetal echocardiography.
Key words: Echocardiography, Fertilization, Heart diseases, Pregnant women.
 Suter S, Yagel S, Silverman NH, Gembruch U. Fetal cardiology: Embryology, genetics, physiology, echocardiographic evaluation, diagnosis and perinatal management of cardiac diseases. Eur J Pediatr 2003; 162: 658.
 Sadowski ShL. Congenital cardiac disease in the newborn infant: Past, present, and future. Crit Care Nurs Clin North Am 2009; 21: 37–48.
 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: 387–391.
 Khalil M, Jux Ch, Rueblinger L, Behrje J, Esmaeili A, Schranz D. Acute therapy of newborns with critical congenital heart disease. Transl Pediatr 2019; 8: 114–126.
 Zeng Zh, Zhang H, Liu F, Zhang N. Current diagnosis and treatments for critical congenital heart defects. Exp Ther Med 2016; 11: 1550–1554.
 Petrini J, Damus K, Russell R, Poschman K, Davidoff MJ, Mattison D. Contribution of birth defects to infant mortality in the United States. Teratology 2002; 66 (Suppl.): S3–S6.
 Yang Q, Chen H, Correa A, Devine O, Mathews TJ, Honein MA. Racial differences in infant mortality attributable to birth defects in the United States, 1989–2002. Birth Defects Res A Clin Mol Teratol 2006; 76: 706–713.
 Lee W, Allan L, Carvalho JS, Chaoui R, Copel J, Devore G, et al. ISUOG consensus statement: What constitutes a fetal echocardiogram? Ultrasound Obstet Gynecol 2008; 32: 239–242.
 Maulik D, Nanda NC, Maulik D, Vilchez G. A brief history of fetal echocardiography and its impact on the management of congenital heart disease. Echocardiography 2017; 34: 1760–1767.
 Li Y, Hua Y, Fang J, Wang Ch, Qiao L, Wan Ch, et al. Performance of different scan protocols of fetal echocardiography in the diagnosis of fetal congenital heart disease: A systematic review and meta-analysis. PLoS One 2013; 8: e65484.
 von Dadelszen P, Magee LA. Preventing deaths due to the hypertensive disorders of pregnancy. Best Pract Res Clin Obstet Gynaecol 2016; 36: 83–102.
 van Velzen CL, Haak MC, Reijnders G, Rijlaarsdam MEB, Bax CJ, Pajkrt E, et al. Prenatal detection of transposition of the great arteries reduces mortality and morbidity. Ultrasound Obstet Gynecol 2015; 45: 320–325.
 Carlson LM, Vora NL. Prenatal diagnosis: Screening and diagnostic tools. Obstet Gynecol Clin North Am 2017; 44: 245–256.
 Kearns AD, Caglia JM, Ten Hoope-Bender P, Langer A. Antenatal and postnatal care: A review of innovative models for improving availability, accessibility, acceptability and quality of services in low-resource settings. BJOG 2016; 123: 540–548.
 Van den Veyver IB. Recent advances in prenatal genetic screening and testing. F1000Res 2016; 5: 2591.
 Wiechec M, Knafel A, Nocun A. Prenatal detection of congenital heart defects at the 11-to 13-week scan using a simple color Doppler protocol including the 4-chamber and 3-vessel and trachea views. J Ultrasound Med 2015; 34: 585–594.
 Ghiasi Sh, Mottaghi Moghaddam Shahri H, Heidari E. Fetal echocardiography indications: A single center experience. Int J Pediatr 2019; 7: 8969–8976.
 Sharma S, Kaur N, Kaur K, Pawar NC. Role of echocardiography in prenatal screening of congenital heart diseases and its correlation with postnatal outcome. J Clin Diagnos Res 2017; 11: TC12.
 Stümpflen I, Stümpflen A, Wimmer M, Bernaschek G. Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease. Lancet 1996; 348: 854–857.
 Ferentzi H, Pfitzer C, Rosenthal LM, Berger F, Schmitt KRL. Long-term early development research in congenital heart disease (LEADER-CHD): A study protocol for a prospective cohort observational study investigating the development of children after surgical correction for congenital heart defects during the first 3 years of life. BMJ Open 2017; 7: e018966.
 Nair A, Radhakrishnan S. Evaluation of referral pattern for fetal echocardiography at a tertiary care center in Northern India and its implications. J Obstet Gynaecol India 2016; 66 (Suppl.): 258–262.
 Simpson LL. Indications for fetal echocardiography from a tertiary-care obstetric sonography practice. J Clin Ultrasound 2004; 32: 123–128.
 Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: Population-based cohort study. BMJ 1999; 318: 81–85.
 Kulkarni S. Does fetal echo help the fetus? Ann Pediatr Cardiol 2013; 6: 21–23.
 Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, et al. Diagnosis and treatment of fetal cardiac disease: A scientific statement from the American Heart Association. Circulation 2014; 129: 2183– 2242.
 Carvalho JS, Moscoso G, Tekay A, Campbell S, Thilaganathan B, Shinebourne EA. Clinical impact of first and early second trimester fetal echocardiography on high-risk pregnancies. Heart 2004; 90: 921–926.
 Wieacker P, Steinhard J. The prenatal diagnosis of genetic diseases. Dtsch Arztebl Int 2010; 107: 857–862.