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Peer-reviewedCC BY-NC-NDMaternal-fetal medicine (Wolters Kluwer Health, Inc.)

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

  1. 1Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China
  2. 2Institute of Pediatrics, Children’s Hospital of Fudan University, National Children’s Medical Center, Shanghai 201102, China

Abstract

Objective:. To describe the prevalence and detection patterns of prenatal and postnatal screening for congenital heart disease (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 (χ2 = 0.2245, P = 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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BibTeX
@article{cao2026prenatal,
  title = {{Prenatal and Postnatal Screening for Congenital Heart Disease: Prevalence and Detection Patterns From a Retrospective Cohort Study}},
  author = {Li Cao and Jialin Zhang and Jiayu Wang and Jimei Wang and Yu Xiong and Qiongjie Zhou and Yonghao Gui and Xiaotian Li},
  journal = {Maternal-fetal medicine (Wolters Kluwer Health, Inc.)},
  year = {2026},
  month = jun,
  doi = {10.1097/fm9.0000000000000369},
  url = {https://europepmc.org/article/PMC/PMC13706334},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Prenatal and Postnatal Screening for Congenital Heart Disease: Prevalence and Detection Patterns From a Retrospective Cohort Study
AU  - Li Cao
AU  - Jialin Zhang
AU  - Jiayu Wang
AU  - Jimei Wang
AU  - Yu Xiong
AU  - Qiongjie Zhou
AU  - Yonghao Gui
AU  - Xiaotian Li
PY  - 2026
DA  - 2026/06/25
JO  - Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
DO  - 10.1097/fm9.0000000000000369
UR  - https://europepmc.org/article/PMC/PMC13706334
AB  - Objective:. To describe the prevalence and detection patterns of prenatal and postnatal screening for congenital heart disease (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 (χ2 = 0.2245, P = 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.
SN  - 2096-6954
SN  - 2641-5895
ER  -