Fetal cardiac abnormalities: Screening, evaluation, and pregnancy management
- Joshua Copel, MD
Joshua Copel, MD
- Obstetrics, Gynecology and the Reproductive Sciences, and Pediatrics
- Yale University School of Medicine
- Section Editors
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
- Deborah Levine, MD
Deborah Levine, MD
- Section Editor — Imaging
- Professor of Radiology
- Director of Ob/Gyn Ultrasound
- Department of Radiology
- Beth Israel Deaconess Medical Center
Identification and management of fetal cardiac abnormalities are important because congenital anomalies are the leading cause of infant death and congenital heart disease accounts for 30 to 50 percent of these deaths [1,2]. Generally, the full spectrum of cardiac lesions seen in a postnatal population can be detected in the fetus, with the exception of some minor lesions, such as secundum atrial septal defects, which are less likely to be diagnosed in the prenatal period.
RATIONALE FOR PRENATAL SCREENING
Prenatal diagnosis of cardiac disease provides parents an opportunity to obtain prognostic information prior to birth, learn about treatment options before and after delivery, reach decisions concerning the management approach that is best for their family (eg, whether to terminate pregnancy or undergo in utero intervention, if available; nonintervention), and plan for specific needs at birth (eg, place of delivery, pediatric and obstetric providers, route of delivery, palliative care). It may also improve neonatal outcome . Given the complexity of these issues, referral to a maternal-fetal medicine specialist, pediatric cardiologist, geneticist, and/or neonatologist is recommended.
There are few data on the impact of prenatal diagnosis on morbidity or mortality of affected fetuses, despite substantial experience in the identification of fetal cardiac anomalies. In a 2015 systematic review and meta-analysis of eight studies on the effect of prenatal diagnosis of critical congenital heart disease on neonatal mortality, prenatal diagnosis reduced mortality prior to planned cardiac surgery compared with postnatal diagnosis (pooled odds ratio 0.26; 95% CI 0.08–0.84; 1 death/207 prenatal diagnoses versus 31 deaths/821 postnatal diagnoses) . The analysis was limited to patients with comparable anatomy, standard risk, a parental desire to treat, and optimal care. The small number of deaths precludes a clear conclusion about the benefit of prenatal diagnosis, and the observed survival benefit may not apply to newborns who have a prenatal diagnosis of noncritical congenital heart defects or who receive nonoptimal care.
Prenatal diagnosis of cardiac disease has also been associated with a reduction in neonatal morbidity, including severe acidosis . Infants with congenital heart defects that require patency of the ductus arteriosus for systemic or pulmonary blood flow can benefit by early postnatal intervention (prostaglandin E1) to prevent closure of the ductus [5,6]. Similarly, readiness to perform transcatheter intervention (eg, balloon atrial septostomy for patients with d-TGA or HLHS, balloon valvuloplasty for patients with critical pulmonic or aortic stenosis)or pacing of complete heart block soon after birth enables rapid stabilization of the postnatal circulation and thus may improve outcome [5,7-10].
In some cases, prenatal diagnosis also provides an opportunity for in utero treatment. Transplacental medical therapy improves the prognosis of some fetal arrhythmias, particularly tachycardias (see "Overview of the general approach to diagnosis and treatment of fetal arrhythmias"). Invasive in utero cardiac intervention (eg, aortic or pulmonary balloon valvuloplasty, atrial needle septoplasty) may improve the prognosis of some lesions, such as HLHS or severe valvular abnormalities (eg, severe mitral regurgitation, aortic stenosis, pulmonary atresia); however, these interventions are performed at only a few fetal surgery centers and are considered investigational.
- Mathews TJ, MacDorman MF. Infant mortality statistics from the 2006 period linked birth/infant death data set. Natl Vital Stat Rep 2010; 58:1.
- Gilboa SM, Salemi JL, Nembhard WN, et al. Mortality resulting from congenital heart disease among children and adults in the United States, 1999 to 2006. Circulation 2010; 122:2254.
- Holland BJ, Myers JA, Woods CR Jr. Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis. Ultrasound Obstet Gynecol 2015; 45:631.
- Verheijen PM, Lisowski LA, Stoutenbeek P, et al. Prenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient. J Thorac Cardiovasc Surg 2001; 121:798.
- Bonnet D, Coltri A, Butera G, et al. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation 1999; 99:916.
- Kumar RK, Newburger JW, Gauvreau K, et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol 1999; 83:1649.
- Punn R, Silverman NH. Fetal predictors of urgent balloon atrial septostomy in neonates with complete transposition. J Am Soc Echocardiogr 2011; 24:425.
- Du Marchie Sarvaas GJ, Trivedi KR, Hornberger LK, et al. Radiofrequency-assisted atrial septoplasty for an intact atrial septum in complex congenital heart disease. Catheter Cardiovasc Interv 2002; 56:412.
- Lowenthal A, Kipps AK, Brook MM, et al. Prenatal diagnosis of atrial restriction in hypoplastic left heart syndrome is associated with decreased 2-year survival. Prenat Diagn 2012; 32:485.
- Glatz AC, Gaynor JW, Rhodes LA, et al. Outcome of high-risk neonates with congenital complete heart block paced in the first 24 hours after birth. J Thorac Cardiovasc Surg 2008; 136:767.
- 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.
- Rasiah SV, Publicover M, Ewer AK, et al. A systematic review of the accuracy of first-trimester ultrasound examination for detecting major congenital heart disease. Ultrasound Obstet Gynecol 2006; 28:110.
- Carvalho JS, Allan LD, Chaoui R, et al. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013; 41:348.
- http://www.aium.org/resources/guidelines/obstetric.pdf (Accessed on June 15, 2015).
- Li Y, Hua Y, Fang J, 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.
- Tegnander E, Eik-Nes SH. The examiner's ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination. Ultrasound Obstet Gynecol 2006; 28:8.
- Wong SF, Chan FY, Cincotta RB, et al. Factors influencing the prenatal detection of structural congenital heart diseases. Ultrasound Obstet Gynecol 2003; 21:19.
- Friedberg MK, Silverman NH, Moon-Grady AJ, et al. Prenatal detection of congenital heart disease. J Pediatr 2009; 155:26.
- Pinto NM, Nelson R, Puchalski M, et al. Cost-effectiveness of prenatal screening strategies for congenital heart disease. Ultrasound Obstet Gynecol 2014; 44:50.
- Carvalho JS, Mavrides E, Shinebourne EA, et al. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 2002; 88:387.
- Tegnander E, Eik-Nes SH, Linker DT. Incorporating the four-chamber view of the fetal heart into the second-trimester routine fetal examination. Ultrasound Obstet Gynecol 1994; 4:24.
- Rychik J, Ayres N, Cuneo B, et al. American Society of Echocardiography guidelines and standards for performance of the fetal echocardiogram. J Am Soc Echocardiogr 2004; 17:803.
- Shipp TD, Bromley B, Hornberger LK, et al. Levorotation of the fetal cardiac axis: a clue for the presence of congenital heart disease. Obstet Gynecol 1995; 85:97.
- Smith RS, Comstock CH, Kirk JS, Lee W. Ultrasonographic left cardiac axis deviation: a marker for fetal anomalies. Obstet Gynecol 1995; 85:187.
- Lee W, Allan L, Carvalho JS, et al. ISUOG consensus statement: what constitutes a fetal echocardiogram? Ultrasound Obstet Gynecol 2008; 32:239.
- http://www.aium.org/resources/guidelines/fetalEcho.pdf (Accessed on June 15, 2015).
- Abuhamad A. Color and pulsed Doppler in fetal echocardiography. Ultrasound Obstet Gynecol 2004; 24:1.
- Greenwood RD, Rosenthal A, Parisi L, et al. Extracardiac abnormalities in infants with congenital heart disease. Pediatrics 1975; 55:485.
- Wallgren EI, Landtman B, Rapola J. Extracardiac malformations associated with congenital heart disease. Eur J Cardiol 1978; 7:15.
- Song MS, Hu A, Dyamenahalli 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; 33:552.
- Copel JA, Pilu G, Kleinman CS. Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography. Am J Obstet Gynecol 1986; 154:1121.
- Pajkrt E, Weisz B, Firth HV, Chitty LS. Fetal cardiac anomalies and genetic syndromes. Prenat Diagn 2004; 24:1104.
- Jansen FA, Everwijn SM, Scheepjens R, et al. Fetal brain imaging in isolated congenital heart defects - a systematic review and meta-analysis. Prenat Diagn 2016; 36:601.
- Copel JA, Cullen M, Green JJ, et al. The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping. Am J Obstet Gynecol 1988; 158:409.
- Wimalasundera RC, Gardiner HM. Congenital heart disease and aneuploidy. Prenat Diagn 2004; 24:1116.
- Tuuli MG, Dicke JM, Stamilio DM, et al. Prevalence and likelihood ratios for aneuploidy in fetuses diagnosed prenatally with isolated congenital cardiac defects. Am J Obstet Gynecol 2009; 201:390.e1.
- Mone F, Walsh C, Mulcahy C, et al. Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms. Prenat Diagn 2015; 35:577.
- Moore JW, Binder GA, Berry R. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am J Obstet Gynecol 2004; 191:2068.
- Ferencz C, Neill CA, Boughman JA, et al. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 1989; 114:79.
- Wallenstein MB, Harper LM, Odibo AO, et al. Fetal congenital heart disease and intrauterine growth restriction: a retrospective cohort study. J Matern Fetal Neonatal Med 2012; 25:662.
- Perez-Delboy A, Simpson LL. Prenatal sonographic diagnosis of congenital heart disease and intrauterine growth restriction: a case-control study. J Clin Ultrasound 2007; 35:376.
- Itsukaichi M, Kikuchi A, Yoshihara K, et al. Changes in fetal circulation associated with congenital heart disease and their effects on fetal growth. Fetal Diagn Ther 2011; 30:219.
- Matthiesen NB, Henriksen T, Agergaard P, et al. Congenital Heart Defects and Indices of Placental and Fetal Growth in a Nationwide Study of 924,422 Liveborn Infants. Circulation 2016.
- Divanovic A, Bowers K, Michelfelder E, et al. Intrauterine fetal demise after prenatal diagnosis of congenital heart disease: assessment of risk. Prenat Diagn 2016; 36:142.
- Araujo Júnior E, Tonni G, Chung M, et al. Perinatal outcomes and intrauterine complications following fetal intervention for congenital heart disease: systematic review and meta-analysis of observational studies. Ultrasound Obstet Gynecol 2016; 48:426.
- Peterson AL, Quartermain MD, Ades A, et al. Impact of mode of delivery on markers of perinatal hemodynamics in infants with hypoplastic left heart syndrome. J Pediatr 2011; 159:64.
- Costello JM, Polito A, Brown DW, et al. Birth before 39 weeks' gestation is associated with worse outcomes in neonates with heart disease. Pediatrics 2010; 126:277.
- Cnota JF, Gupta R, Michelfelder EC, Ittenbach RF. Congenital heart disease infant death rates decrease as gestational age advances from 34 to 40 weeks. J Pediatr 2011; 159:761.
- Costello JM, Pasquali SK, Jacobs JP, et al. Gestational age at birth and outcomes after neonatal cardiac surgery: an analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. Circulation 2014; 129:2511.
- Kipps AK, Feuille C, Azakie A, et al. Prenatal diagnosis of hypoplastic left heart syndrome in current era. Am J Cardiol 2011; 108:421.
- Levey A, Glickstein JS, Kleinman CS, et al. The impact of prenatal diagnosis of complex congenital heart disease on neonatal outcomes. Pediatr Cardiol 2010; 31:587.
- Atz AM, Travison TG, Williams IA, et al. Prenatal diagnosis and risk factors for preoperative death in neonates with single right ventricle and systemic outflow obstruction: screening data from the Pediatric Heart Network Single Ventricle Reconstruction Trial(∗). J Thorac Cardiovasc Surg 2010; 140:1245.
- RATIONALE FOR PRENATAL SCREENING
- OPTIMUM AGE FOR SCREENING FOR FETAL CARDIAC DEFECTS
- BASIC FETAL CARDIAC EVALUATION
- Recommended views
- ADVANCED FETAL CARDIAC EVALUATION
- Indications for echocardiography
- Procedures for advanced fetal cardiac assessment
- Diagnosis of specific cardiac abnormalities
- ADDITIONAL EVALUATION AND FOLLOW-UP
- Assessment for extracardiac anomalies
- Genetic assessment
- Ultrasound follow-up
- Referral to a pediatric cardiologist
- Evaluation of fetal well-being
- Fetal therapy
- Timing and route
- Delivery room care
- SUMMARY AND RECOMMENDATIONS