Prenatal Diagnosis Rate of Critical Congenital Heart Disease Remains Inadequate with Significant Racial/Ethnic and Socioeconomic Disparities and Technical Barriers

Abstract

Prenatal diagnosis (preDx) of critical congenital heart disease (CCHD) decreases neonatal morbidity and mortality. Obstetrical fetal cardiac imaging guidelines in 2013 aimed to increase preDx. The objectives of this study were to determine the contemporary preDx rate of CCHD and identify maternal-fetal factors and variations in prenatal care that may be potential barriers. This retrospective single center study evaluated maternal demographics and characteristics of infants with CCHD (requiring cardiac catheterization or surgical intervention before 6 months-old) between 2016 and 2019. 58% of the 339 infants with CCHD had preDx. Infants with preDx were more likely to have mothers ≥ 35 years-old (p = 0.028), family history of CHD (p = 0.017), health insurance (p = 0.002), or anatomic scan with perinatology (p < 0.001). Hispanic infants were less likely to have preDx (45.6%, p = 0.005). PreDx rates were higher in infants with extracardiac/genetic anomalies (p < 0.001) and significantly different between CCHD subtypes (76% for single ventricle, 51% for biventricular/four-chamber view, 59% for proximal outflow tract anomalies, and 48% for distal great artery anomalies; p = 0.024). In infants without preDx, 25% of their mothers had indication for, but did not undergo, fetal echocardiography. PreDx rates of CCHD remains inadequate across subtypes detectable by standard fetal cardiac screening views, particularly in uninsured and Hispanic communities.

Keywords: Congenital heart disease; Fetal cardiology; Prenatal diagnosis; Racial disparities; Ultrasound.

Fig. 1

Prenatal diagnosis rates based on the infant’s race/ethnicity

Fig. 2

Prenatal diagnosis rates based on type of congenital heart disease. The single ventricle group includes diagnoses such as hypoplastic left heart syndrome that require the four-chamber view for diagnosis. The two ventricle group includes biventricular/4CV lesions that require the four-chamber view for diagnosis such as total anomalous pulmonary venous return. Tetralogy of Fallot and D-Transposition of the Great Arteries are examples of diagnoses requiring outflow tract views. Interrupted aortic arch and coarctation of the aorta were diagnoses categorized as requiring the three vessel trachea view

Fig. 3

Prenatal diagnosis rates based on fetal cardiac view required for diagnosis