Prenatal and Postnatal Screening for Congenital Heart Disease: Prevalence and Detection Patterns From a Retrospective Cohort Study

Abstract Objective: Prenatal ultrasound screening has been widely implemented for congenital heart disease (CHD). This study aimed to describe the prevalence and detection patterns of prenatal and postnatal screening for CHD. Methods: This retrospective cohort study was conducted at the Obstetrics and Gynecology Hospital of Fudan University between 2018 and 2020. Pregnant women with complete prenatal and postnatal follow-up data were recruited for final analysis. Prenatal and postnatal screening for CHD included mid-trimester fetal cardiac ultrasound at 20–24 gestational weeks, neonatal pulse oximetry and cardiac auscultation 6–72 hours after birth, and at a 42-day postnatal visit. Results: Of 21,920 fetuses or neonates (including 548 twin pregnancies), 318 CHD cases were identified. The annual prevalence of CHD was 14.5 per 1000 births. CHD was associated with a higher proportion of male gender in infants, preterm birth, low birth weight, and multiple pregnancy ( P < 0.001). Of the 318 CHD cases, 270 (84.9%) were simple CHD and 48 (15.1%) were complex CHD (most common was tetralogy of Fallot, coarctation of the aorta). Overall, 40.6% (129/318) of CHD cases were diagnosed prenatally, and 59.4% (189/318) were diagnosed postnatally. The prenatal diagnosis rate for complex CHD was 89.6% (43/48), whereas 68.1% (184/270) of simple CHD cases were diagnosed postnatally. The annual pattern was consistent between 2018 and 2020 ( χ 2 = 0.2245, P for trend = 0.894). Conclusion: Our findings indicate the application of a combined prenatal and postnatal screening strategy for comprehensive CHD detection. Prenatal screening for CHD achieved high levels of efficacy for complex CHD with a detection rate of 89.6%. Sequential newborn screening was crucial for identifying simple CHD with a postnatal detection rate of 68.1%. Our findings indicate that prenatal and postnatal detection pattern vary by CHD complexity.