Key result
Combined screening detects ~90% of complex CHD cases prenatally while identifying simple cases postnatally.
Why the study?
Although prenatal ultrasound screening has been widely implemented for congenital heart disease (CHD), the prevalence and detection patterns of combined prenatal and postnatal screening needed to be described.
Cohort (n=21,920)
No
Prenatal screening is highly effective for detecting complex congenital heart disease (89.6%), while sequential newborn screening is crucial for identifying simple congenital heart disease (68.1%).
Answers are grounded in this paper and cite their sources.
CHD screening patterns characterized in single-center cohort; leaves open optimal detection strategies pending multicenter validation.
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.
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Cao et al. (2026) conducted a cohort in Congenital heart disease (n=21,920). Prenatal and postnatal screening for CHD was evaluated on Prevalence and detection patterns of CHD. A combined screening strategy identified a CHD prevalence of 14.5 per 1000 births, with prenatal screening detecting 89.6% of complex cases and postnatal screening detecting 68.1% of simple cases.
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