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.

Untangling the Complex Associations between Socioeconomic and Demographic Characteristics and Prenatal Detection and Outcomes in Congenital Heart Disease

“…Studies that included race/ethnicity in their analyses have found consistently lower rates of prenatal detection among Hispanic mothers. In a single-center study of infants with critical CHD, Hispanic infants were significantly less likely to have received a prenatal diagnosis, with 42% lower odds of prenatal detection after accounting for other variables, compared to other racial or ethnic groups [1]. Similarly, a study from the National Birth Defects Prevention Study (NBPDS) found Hispanic mothers were significantly less likely to have a prenatal diagnosis of CHD as compared to non-Hispanic white mothers (9.5% vs. 17.3%, respectively) [7].…”

“…A more recent statewide study from Arizona also found private insurance to be significantly associated with higher rates of prenatal detection, as compared to public insurance [14]. Regardless of insurance type, the presence of any health insurance during pregnancy is more likely to increase the likelihood of a prenatal diagnosis of CHD [1]. Even among studies that found no difference in prenatal detection of CHD by insurance type, public insurance was associated with a later gestational age at the time of prenatal diagnosis, as compared to those with private insurance [10,13].…”

“…Perhaps these findings better reflect the opportunities of a given neighborhood rather than the true income or poverty status of the mother. Finally, the only studies to directly examine household income were small studies in which no difference in prenatal detection of CHD by income was discovered [1,9,17].…”

“…A 6-year review of the Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database found significant variations in the rate of prenatal detection across broad regions of the United States, with east coast areas having the highest rate of prenatal detection [22]. Those studies that examined distance from a fetal cardiologist or fetal echocardiogram found no difference in rates of prenatal detection by location [1,15].…”

“…The benefits of prenatal detection are numerous and include education and psychological support for families, time for expanded testing for co-morbidities, and adequate time for preparation, including delivery planning and mobilization of medical teams to care for unstable infants with CHD. Rates of prenatal detection vary dramatically by cardiac lesion, ranging between 10 and 90% [1].…”