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June 27, 2026Maternal-Fetal MedicineOpen Access

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

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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.

Population

21,920 fetuses or neonates (including 548 twin pregnancies) from pregnant women with complete follow-up data

Design

Retrospective cohort study

Follow-up

42-day postnatal visit

Key result

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.

Authors

LCLi CaoJZJialin ZhangYWYi-Xiang Wang

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Overview

CHD screening patterns characterized in single-center cohort; leaves open optimal detection strategies pending multicenter validation.

Key Points

  • This study aims to describe prevalence and detection patterns of congenital heart disease through prenatal and postnatal screening.
  • Retrospective cohort study conducted at Fudan University from 2018 to 2020.
  • Included pregnant women with complete prenatal and postnatal follow-up data.
  • Screening involved fetal cardiac ultrasound, neonatal pulse oximetry, and cardiac auscultation.
  • Identified 318 cases of congenital heart disease out of 21,920 fetuses or neonates, with an annual prevalence of 14.5 per 1000 births.
  • Prenatal diagnosis rate for complex congenital heart disease was 89.6%, while 68.1% of simple congenital heart disease cases were diagnosed postnatally.
  • Overall, 40.6% of CHD cases were diagnosed prenatally and 59.4% postnatally.

Study Design

Type

Cohort (n=21,920)

Multicenter

No

Structured PICO

P
Population
21,920 fetuses or neonates from pregnant women with complete prenatal and postnatal follow-up data, screened for congenital heart disease.
E
Exposure
Combined prenatal and postnatal screening strategy for CHD (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).
O
Outcome
Prevalence and detection patterns of prenatal and postnatal screening for CHD.

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%).

Cite This Study

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.

synapsesocial.com/papers/6a3f68f5aea7db3c1953fe8dhttps://doi.org/10.1097/fm9.0000000000000369
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