Chromosomal analysis and short-term outcome of prenatally diagnosed complex congenital heart disease

Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. In addition, worse cardiac prognosis is observed when extra-cardiac anomalies (ECA) are associated. This retrospective chart review was aimed at finding markers for short-term outcome prediction of prenatally-diagnosed complex CHD, focusing in particular on the impact of CHD category, of CHD severity score and of prenatal or postnatal diagnosis of ECA or chromosomal anomalies on 4 primary outcomes: termination of pregnancy (TOP), intrauterine fetal demise, neonatal mortality and 1-year-survival rate. We reviewed medical files from 381 fetuses, presenting at our center between 2018 and 2021 with CHD for which prenatal advice by a pediatric cardiologist was sought. 341 fetuses met the inclusion criteria for the study. Twin pregnancies (7.62%; OR 4.76 (p<0.001)) and pregnancies resulting from assisted reproductive technology (7.33%; OR 2.44 (p<0.001)) were more prevalent compared to the general population. CHD categories and CHD severity scores, ranging from A (extremely high risk) to D (low risk), were assigned to each fetus. Prenatal or postnatal chromosomal microarray results were available for 232 fetuses (68%) and were abnormal in 30 (12.9%). Logistic regression analysis was used to determine significant predictors for the 4 primary outcomes. TOP was carried out significantly more with: prenatal genetic diagnosis (p<0.001), prenatal extracardiac symptoms (p<0.001), severity score A (p=0.045) and B (p=0.036). Survival was significantly lower with: prenatal extracardiac symptoms (p=0.002), prematurity (p=0.046), severity scores A (p=0.009) and B (p=0.004), and with univentricular heart. CHD severity score, chromosomal anomalies and ECA are determining factors for continuation of the pregnancy, for survival and for overall mortality, underscoring the importance of prenatal ultrasound and genotyping for prognostication of fetuses with CHD.