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.
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- 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