Overall, 58% (197/339) of infants with CCHD had prenatal diagnosis. The most common CCHD lesions were coarctation of the aorta (47% diagnosed prenatally), tetralogy of Fallot variants (63% diagnosed prenatally), and d-transposition of the great arteries (63% diagnosed prenatally) (Table 1). Infants with prenatal diagnosis were more likely to have mothers who were 35 or older (p = 0.028), had family history of CHD (p = 0.017), had health insurance (p = 0.002), or saw a perinatologist for their anatomic scan (p < 0.001) (Table 2). Hispanic infants were less likely to have prenatal diagnosis (57/125, 45.6%) compared to African American (19/26, 73%), Asian (21/33, 63.6%), or Caucasian/Non-Hispanic (77/121, 63.6%) infants (p = 0.005) (Fig. 1). Hispanic mothers were also more likely to have public health insurance (62%) compared to African American (48%), Asian (31%), or Caucasian/Non-Hispanic (18%) mothers (p < 0.001). In all infants who had prenatal diagnosis versus those who did not, there was no significant difference between maternal primary language, BMI, annual household income, socioeconomic status (based on ADI), health insurance type, or distance from a fetal cardiologist. Prenatal diagnosis rates were higher in infants with prenatal diagnosis of extracardiac/genetic anomalies (p < 0.001) and significantly different between subtypes of CCHD (76% in infants with single ventricle anomalies, 51% in infants with biventricular/4CV anomalies, 59% in infants with proximal outflow tract anomalies, and 48% in infants with anomalies of the distal great arteries; p = 0.024) (Table 3, Fig. 2).

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

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

In the infants without prenatal diagnosis, 73% should have been detected on screening cardiac views on anatomy ultrasound: 31/142 (21%) had CCHD detectable by fetal four-chamber view and 77/142 (54%) had CCHD detectable by adequate outflow tract imaging (Fig. 3). 25% (36/142) of mothers of infants without prenatal diagnosis had indication for, but were not referred for or did not undergo, fetal echocardiography; of these mothers, 47% (17/36) had diabetes (at least 6 with pre-gestational diabetes; 11 mothers had insufficient recall/data to determine type/severity of diabetes), 14% (5/36) were carrying monochorionic twin pregnancies, and 36% (13/36) had a fetus with an extracardiac (5 renal, 2 cleft lip/palate, 1 brain, 1 gastrointestinal) or genetic (Trisomy 21) anomaly, 2/36 had incomplete screening fetal cardiac views, and 1 had an IVF pregnancy.

Prenatal diagnosis rates based on fetal cardiac view required for diagnosis

Of the neonatal subgroup that required/underwent intervention within the first 31 days of life, 58% (124/215) were prenatally diagnosed. Within this subgroup, the statistical analysis yielded the same statistically significant factors as those in the whole study group with three exceptions. Mothers with public health insurance (p = 0.03) or a lower socioeconomic status as determined by the ADI (p = 0.028) were less likely to have an infant with prenatal diagnosis. Mother’s age at delivery did not reach statistical significance. Within the neonatal subgroup, infants of mothers who had prenatal care (p = 0.012), had insurance (p = 0.005), saw a perinatologist as the highest level of care (p < 0.001), had an anatomy scan done in the second trimester (p = 0.028), had a fetal echocardiogram (p < 0.001) were also more likely to be diagnosed prenatally.

In all infants who had prenatal diagnosis versus those who did not, there was no significant difference between maternal primary language, gestational age at start of prenatal care, presence of maternal medical problems, socioeconomic status, or miles from a fetal cardiologist.

In the univariate analysis (Table 4), Hispanic infants were less likely to be diagnosed prenatally (OR 0.48, p = 0.005 for the entire study population, OR 0.39, p = 0.004 for the neonatal subgroup). Mothers older than 35 years were more likely to have an infant with prenatal diagnosis (OR 1.83, p = 0.028). Although there was no statistically significant difference between insurance types when analyzing the entire study population, those with private insurance were more likely to be prenatally diagnosed in the neonatal intervention subgroup (OR 1.9, p = 0.04). Mothers with an obstetrician, midwife or family practice practitioner as their highest level of prenatal care were less likely to have an infant with prenatal diagnosis (OR 0.06, p < 0.001 for the entire study population; OR 0.03, p < 0.001 for the neonatal subgroup) compared to those who had a perinatologist as the highest level of care. Those with their anatomic scan at a perinatology office were more likely to be prenatally diagnosed as compared to those with their scan at an obstetric office (OR 3.35, p < 0.001 for the entire study population; OR 3.2, p = 0.003 for the neonatal subgroup).

Infants with single ventricle CHD were more likely to be prenatally diagnosed compared with biventricular/4CV CHD (OR 3.05, p = 0.02). In the neonatal intervention subgroup, those with single ventricle lesions (OR 8.55, p = 0.002), proximal outflow tract abnormalities (OR 5.2, p = 0.006), and distal outflow tract abnormalities (OR 4.76, p = 0.013) were more likely to be prenatally diagnosed as compared to biventricular/4CV lesions. Proximal outflow tract abnormalities included pulmonary stenosis, aortic stenosis, d-transposition of the great arteries, truncus arteriosus and tetralogy of Fallot. Distal outflow tract abnormalities included coarctation of the aorta and interrupted aortic arch. Those with extracardiac/genetic anomalies were more likely to be prenatally diagnosed for both the entire study population (OR 3.3, p < 0.001) and the neonatal subgroup (OR 2.7, p = 0.008).

The multivariate analysis (Table 5) included infant race/ethnicity, highest level of maternal prenatal care, location of anatomic scan, extracardiac/genetic abnormalities, views required for diagnosis, and single ventricular lesions versus biventricular/4CV lesions. Several variables were excluded from the multivariate analysis due to small subgroups. The multivariate analysis confirmed that Hispanic infants were less likely to be prenatally diagnosed (OR 0.42, p = 0.048). Those who had an obstetrician, midwife or family practice physician as their highest level of prenatal care were less likely to be prenatally diagnosed (OR 0.08, p < 0.001) compared to those who saw a perinatologist. Those who had their anatomic scan at a perinatology office were more likely to be prenatally diagnosed (OR 2.89, p = 0.01). The subtype of CCHD (single ventricle vs biventricular/4CV CCHD vs outflow tract anomalies vs distal great artery anomalies) and present of fetal extracardiac/genetic abnormality diagnosed were not statistically significant in the multivariate analysis.