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.
Keywords: Heart defects, congenital; Prenatal screening; Postnatal screening; Prevalence
Introduction
Congenital heart disease (CHD) is one of the most common congenital malformations, a leading cause of perinatal and infant mortality, and arises from the abnormal development of the heart and great vessels during embryogenesis.1 The global incidence of CHD is estimated at approximately 8–10 per 1000 live births, with significant regional variations.2 In China, CHD affects approximately 7.4 per 1000 pregnancies, translating to a substantial public health burden.3
Analyzing prenatal and postnatal screening data relating to the prevalence of CHD and capturing the entire spectrum of gestational ages and subtypes is of significant importance if we are to establish a more timely and accurate pattern for CHD screening.4 Recent meta-analyses have shown that the diagnostic accuracy of prenatal screening for CHD is approximately 76%, with significant heterogeneity across different types of lesions and healthcare settings,5 thus highlighting the need for standardized screening protocols and initiatives for quality improvement.6 For instance, although prenatal detection rates for hypoplastic left heart syndrome and transposition of the great arteries achieve prenatal detection rates as high as 84%–93%, lesions such as coarctation of the aorta and total anomalous pulmonary venous return continue to evade prenatal diagnosis in more than 50% of all cases.7 Thus, the main challenge remains in understanding the differential detection rates of simple and complex CHD lesions.
In 2006, a hierarchical prevention and treatment network for CHD was initiated in China.2 This rapidly expanding three-level prevention system integrates prenatal and postnatal screening approaches. Furthermore, Shanghai has established a comprehensive three-level prevention and treatment network for CHD,8 spanning from the mid-trimester to 42 days postpartum. This integrated system provides an ideal opportunity to investigate the prevalence and detection patterns of prenatal and postnatal screening of CHD.
This study aimed to characterize the performance of this prenatal and postnatal screening program on the prevalence and detection rates of simple and complex CHD.
Materials and methods
Study design and population
This retrospective cohort study was conducted at the Obstetrics and Gynecology Hospital of Fudan University between January 1, 2018 and December 31, 2020. We enrolled registered pregnant women receiving prenatal care and delivered. Women with incomplete medical records, those lost to follow-up before 42 days postpartum, or those with pregnancies complicated by major fetal anomalies not involving the cardiovascular system were excluded from the final analysis. A total of 21,920 fetus or neonates with a complete dataset were included for final analysis (Fig. 1). This study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline.9
Figure 1.
The process used to enroll pregnancies. This study included 21,920 fetus or neonates, among them 548 cases of twinning pregnancy. CHD: Congenital heart disease.
Study setting and procedures
All registered pregnant women received standardized prenatal and postnatal screening for CHD, consistent with national guidelines and international recommendations.
During the prenatal period, prenatal mid-trimester fetal cardiac ultrasound screening at 20–24 weeks of gestation was performed, including the following views: four-chamber, left ventricular outflow tract, right ventricular outflow tract, and three-vessel trachea.7 Color Doppler was used routinely to assess flow across valves and the great vessels. Prenatal ultrasound screening was performed by certified sonographers with specialized training in fetal echocardiography, and abnormal findings were reviewed by maternal-fetal medicine specialists if indicated.
During the postpartum period, live born neonates underwent pulse oximetry screening and cardiac auscultation between 6 and 72 hours after birth and prior to hospital discharge. Pulse oximetry screening followed the American Academy of Pediatrics protocol,10,11 with probes placed on the right hand (pre-ductal) and either foot (post-ductal). A positive screen was defined as: (1) any oxygen saturation measurement < 90%; (2) oxygen saturation < 95% in both extremities on three measurements, each separated by one hour; or (3) a > 3% absolute difference in oxygen saturation between the right hand and foot on three measurements. Neonates with positive screens underwent echocardiography prior to discharge. Infants attended a postnatal follow-up visit at 42 days after birth by specialized pediatrician.
Outcome measures
The primary outcome was a prenatal or postnatal diagnosis of CHD. The diagnosis of CHD was based on echocardiography and/or autopsy findings. Echocardiography was performed by pediatric cardiologists using standardized protocols. Diagnoses were confirmed by certified obstetrician and/or pediatric specialist.
CHD cases were classified into simple CHD and complex CHD. Simple CHD was defined as lesions generally not requiring complex neonatal intervention, such as ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), pulmonary stenosis (PS), right aortic arch, partial atrioventricular septal defect, bileaflet aortic valve, double aortic arch, coronary artery fistula, dilated tumor of the foramen ovale, and aberrant right subclavian artery. Complex CHD was defined as critical lesions typically requiring surgical or catheter-based intervention in the neonatal period or early infancy, such as tetralogy of Fallot (ToF), coarctation of the aorta, complete transposition of the great arteries (TGA), hypoplastic left heart syndrome (HLHS), persistent truncus arteriosus (PTA), hypoplastic right heart syndrome (HRHS), complete atrioventricular septal defect, Ebstein’s anomaly, aortic stenosis, and interruption of the aortic arch. For cases with multiple cardiac anomalies, classification was based on the most hemodynamically significant lesion.
Data source and collection
Demographic and clinical data were extracted from electronic medical records by trained staff. Baseline demographic and clinical characteristics included maternal age gestational age at delivery, gestation number, infant sex, and birth weight. Quality control checks were performed on 10% of randomly selected records to ensure accuracy.
Missing data
We have employed several strategies to address potential selection bias. First, we included all eligible participants during the study period to minimize selection bias. Second, we used standardized and clinical diagnostic criteria for CHD classification. Third, we ensured complete follow-up through 42 days postpartum by checking hospital delivery records with postnatal visit data. Fourth, we trained staff to contact cases with missing data on key variables to complete the missing information and assure that our findings were robust.
Sample size
The study included all eligible participants from January 1, 2018, and December 31, 2020, with no a priori sample size calculation. The final sample of 21,920 fetus or neonates and 318 CHD cases provided sufficient precision to estimate prevalence and detection rates by CHD subtype. The observed prevalence of CHD of 1.45% was consistent with recent national estimates of 7.4 per 1000 pregnancies.3
Statistical analysis
Baseline demographic and clinical characteristics of the study population are summarized by descriptive statistical analysis. Continuous variables are presented as median with interquartile range (IQR) and were compared by the Mann-Whitney U test as they were not normally distributed by Shapiro-Wilk test. Categorical variables are presented as numbers and percentages and were compared by the Chi-square (χ2) test or Fisher exact test, as appropriate.
The primary analyses included the overall prevalence of CHD per 1000 births, the proportion of CHD cases diagnosed prenatally versus postnatally, and the distribution of CHD subtypes. These estimates were stratified by year to investigate temporal trends by the Cochran-Armitage trend test. All statistical analyses were performed using SPSS software (version 26.0, IBM Corp., Armonk, NY, USA) and R software (version 4.3.0, R Foundation for Statistical Computing, Vienna, Austria). A two-tailed P-value of < 0.05 was considered statistically significant.
Ethical approval
This study was conducted in accordance with the ethical standards of the Declaration of Helsinki. Ethical approval was obtained from the ethics committee of the Obstetrics and Gynecology Hospital of Fudan University (Reference: 2023-68, Jun 19, 2023). The requirement for signed and informed consent was waived by the ethics committee.
Results
Study population
A total of 26,211 fetus or neonates from 25,663 registered pregnant women (including 548 twin pregnancies) were initially assessed during the study period. After applying the eligibility criteria, 21,920 fetus or neonates (85.41%) were included in the final analysis (Fig. 1). Analysis identified 318 CHD cases, yielding an overall prevalence of 14.5 per 1000 births (or 1.45%). The annual incidence remained stable, ranging from 1.4% to 1.5% from 2018 to 2020 (2018: 1.49%, 2019: 1.48%, 2020: 1.40%; P = 0.894).
Baseline demographic and clinical characteristics
The baseline demographic and clinical characteristics of pregnancies with and without CHD are given in Table 1. There was no significant difference in maternal age between the two groups (30.5 vs. 30.3 years, P = 0.440). Pregnancies diagnosed with CHD had a significantly earlier delivery week (38.4 vs. 39.3 weeks, P < 0.001), higher proportion of male infants (53.1% vs. 52.7%, P < 0.001), and lower birth weight (2980g vs. 3300g, P < 0.001). Pregnancies diagnosed with CHD were also more frequently complicated by preterm birth (29.6% vs. 6.5%, P < 0.001) and of multiple pregnancy (5.3% vs. 2.5%, P < 0.001).
Table 1.
Baseline demographic and clinical characteristics of pregnancies with and without CHD.
| Characteristics | Total (n = 21,920) | CHD (n = 318) | No CHD (n = 21,602) | Statistical value | P |
|---|---|---|---|---|---|
| Maternal age (years) | 30.3 (28.1, 33.1) | 30.5 (28.2, 33.1) | 30.3 (28.1, 33.1) | 3,356,482 | 0.440* |
| Gestational age at delivery (weeks) | 39.4 (38.6, 40.1) | 38.4 (36.0, 39.7) | 39.3 (38.5, 40.1) | 2,178,156 | < 0.001* |
| Gestation number | 15.0 | < 0.001† | |||
| Singleton pregnancy | 21,372 (97.5) | 301 (94.7) | 21,071 (97.5) | ||
| Multiple pregnancy | 548 (2.5) | 17 (5.3) | 531 (2.5) | ||
| Infant sex | 14.9 | < 0.001† | |||
| Male | 11,544 (52.7) | 169 (53.1) | 11,384 (52.7) | ||
| Female | 10,376 (47.3) | 149 (46.9) | 10,218 (47.3) | ||
| Birth weight (g) | 3310.0 (3020.0, 3590.0) | 2980.0 (2250.0, 3460.0) | 3300.0 (3010.0, 3590.0) | 1,850,432 | < 0.001* |
| Low birth weight (g) | |||||
| < 1500 | 171 (0.8) | 46 (14.5) | 126 (0.6) | 156.2 | < 0.001† |
| 1500–2500 | 1062 (4.8) | 69 (21.7) | 1025 (4.7) | 52.1 | < 0.001† |
| Preterm birth | 1516 (6.9) | 94 (29.6) | 1404 (6.5) | 148.3 | < 0.001† |
Data were presented as median (IQR) for non-normally distributed continuous variables, and n (%) for categorical variables. P values were calculated using Mann-Whitney U test for continuous variables, and Chi-squared tests or Fisher exact test when expected cell count was < 5 after excluding missing values for categorical variables.
*Mann-Whitney U test.
†Chi-squared tests.
CHD: Congenital heart disease; IQR: Interquartile range.
Spectrum of congenital heart disease
Of the 318 CHD cases, the vast majority, 270 (84.9%), were classified as simple CHD, whereas 48 (15.1%) were complex CHD (Table 2). The most common simple CHD types were VSD (n = 140, 44.0%), ASD (n = 53, 16.7%), and PDA (n = 22, 6.9%). Other simple lesions included pulmonary stenosis (n = 19, 6.0%), right aortic arch (n = 12, 3.8%), and partial atrioventricular septal defect (n = 5, 1.6%). Of the complex lesions, ToF was the most frequent, accounting for 14 cases (4.4%), followed by coarctation of the aorta (n = 7, 2.2%), complete TGA (n = 5, 1.6%), and HLHS (n = 5, 1.6%).
Table 2.
The classification of disease spectrum for CHD cases.
| Classification of disease spectrum | Values (n = 318) |
|---|---|
| Simple CHD | 270 (84.9) |
| Ventricular septal defect | 140 (44.0) |
| Atrial septal defect | 53 (16.7) |
| Patent ductus arteriosus | 22 (6.9) |
| Pulmonary stenosis | 19 (6.0) |
| Right aortic arch | 12 (3.8) |
| Partial atrioventricular septal defect | 5 (1.6) |
| Bileaflet aortic valve | 4 (1.3) |
| Double aortic arch | 3 (0.9) |
| Coronary artery fistula | 3 (0.9) |
| Dilated tumor of the foramen ovale | 2 (0.6) |
| Aberrant right subclavian artery | 1 (0.3) |
| Others* | 6 (1.9) |
| Complex CHD | 48 (15.1) |
| Tetralogy of Fallot | 14 (4.4) |
| Coarctation of the aorta | 7 (2.2) |
| Complete transposition of the great arteries | 5 (1.6) |
| Hypoplastic left heart syndrome | 5 (1.6) |
| Persistent truncus arteriosus | 4 (1.3) |
| Hypoplastic right heart syndrome | 4 (1.3) |
| Complete atrioventricular septal defect | 1 (0.3) |
| Ebstein’s anomaly of the tricuspid valve | 1 (0.3) |
| Aortic stenosis | 1 (0.3) |
| Interruption of the aortic arch | 1 (0.3) |
| Others† | 5 (1.6) |
Data are presented as n (%). Percentages may not sum to 100% due to rounding.
*Including four cases of atrial septal defect complicated with ventricular septal defect, one case of pulmonary stenosis complicated with a trial septal defect, and one case of right aortic arch complicated with patent ductus arteriosus.
†Including one case of persistent truncus arteriosus complicated with mitral atresia and ventricular septal defect; one case of hypoplastic left heart syndrome complicated with double-outlet left ventricle and ventricular septal defect; one case of persistent truncus arteriosus complicated with complete atrioventricular septal defect and common atrium; one case of common ventricle complicated with common atrium, persistent truncus arteriosus and total anomalous pulmonary venous connection; and one case of hypoplastic left heart syndrome complicated with double-outlet right ventricle.
CHD: Congenital heart disease.
Diagnostic timing for congenital heart disease
The timing of diagnosis (prenatal vs. postnatal) for all CHD cases and by subtype is summarized in Table 3. Overall, 129 (40.6%) CHD cases were diagnosed prenatally and 189 (59.4%) were diagnosed during the neonatal period. Differences were detected between complex and simple CHD in terms of detection. The prenatal diagnosis rate for complex CHD was 89.6% (43/48); for specific complex lesions, the detection rate was 92.9% (13/14) for ToF and 85.7% (6/7) for coarctation of the aorta.
Table 3.
Prenatal and postnatal diagnosis of congenital heart disease by year from 2018 to 2020.
| Classification | 2018 (n = 109) | 2019 (n = 109) | 2020 (n = 100) | Total (n = 318) | χ2 | P |
|---|---|---|---|---|---|---|
| All CHD | 0.2245 | 0.894 | ||||
| Prenatal | 44 (40.4) | 46 (42.2) | 39 (39.0) | 129 (40.6) | ||
| Postnatal | 65 (59.6) | 63 (57.8) | 61 (61.0) | 189 (59.4) | ||
| Simple CHD | 0.3133 | 0.855 | ||||
| Prenatal | 30 (31.9) | 31 (33.7) | 25 (29.8) | 86 (31.9) | ||
| Postnatal | 64 (68.1) | 61 (66.3) | 59 (70.2) | 184 (68.1) | ||
| Complex CHD | 0.3336 | 0.846 | ||||
| Prenatal | 14 (93.3) | 15 (88.2) | 14 (87.5) | 43 (89.6) | ||
| Postnatal | 1 (6.7) | 2 (11.8) | 2 (12.5) | 5 (10.4) |
Data are presented as n (%). CHD: Congenital heart disease. P values were calculated using Chi-squared tests or Fisher exact test when expected cell count was < 5 after excluding missing values for categorical variables.
Conversely, the majority of simple CHD cases (68.1%; 184/270) were diagnosed postnatally. Specifically, of the 140 cases of VSD, only 21 (15.0%) were detected prenatally, with the remaining 119 (85.0%) identified by postnatal screening. Similarly, ASD and PDA were predominantly postnatal diagnoses, with prenatal detection rates of 13.2% and 9.1%, respectively. This pattern was consistent from 2018 to 2020 (χ2 = 0.2245, P = 0.894).
Discussion
Main findings
Despite of the wide appliance of prenatal ultrasound screening, its precise impact on the prevalence and detection rates of different subtypes of CHD across the perinatal spectrum is unclear. Our population-based cohort study showed that prenatal and postnatal detection pattern vary by CHD complexity: prenatal screening achieved high levels of efficacy for complex CHD, while sequential newborn screening was crucial for identifying simple CHD with a postnatal detection rate of 68.1%.
A comparison with existing evidence
Our main finding is the notable variation of detection rate of prenatal and postnatal screening according to the complexity of CHD. Prenatal ultrasound achieved exceptional diagnostic efficacy for complex CHD, identifying almost 90% of cases prior to birth, aligning with the 92% detection rate recently reported from an Irish study7 and the 82.6% rate from a Danish study.10,11,12 The high prenatal detection rate for complex CHD is clinically practical, allowing for planned delivery at tertiary centers, optimized immediate postnatal management, including prostaglandin infusion when indicated, and therefore achieving a reduced morbidity and mortality.13,14
In contrast, over two-thirds of simple CHD cases were first detected after birth. Recent meta-analysis is consistent with this detection pattern, with VSD detection rates < 40% across multiple studies.7 The low prenatal detection rate for simple CHD, such as a prenatal diagnostic rate of 15.0% for VSD, aligns with the current clinical practice. For example, small muscular VSDs or secundum ASDs may not be hemodynamically significant in utero due to the equalization of ventricular pressures and can evolve or even close spontaneously during gestation.15 This highlights the need for sequential postnatal screening, including pulse oximetry and cardiac auscultation, as highlighted in large-scale studies from China, United States and United Kingdom.16,17,18
The overall prevalence of CHD in our cohort is consistent with previously reported rates in China,3 and its stability over the three-year study period is suggestive of a consistent screening and diagnostic environment. The spectrum of CHD in our cohort, with VSD as the predominant lesion, followed by ASD and ToF, mirrors the distribution reported in the largest Chinese national study to date, which analyzed 18,171 fetal cases of CHD from 2.45 million pregnancies.9 Our findings extend this national data by providing detailed information related to the timing of diagnosis and the differential detection rates by lesion type.
Clinical implications
Our findings reinforce the need for a dual strategy that combines high-quality prenatal screening for the detection of complex CHD and universal postnatal screening for the identification of simple CHD. Several key points should be addressed in future research. First, multi-center and prospective cohort studies across diverse geographic regions in China are now warranted to validate our findings and evaluate regional variations, under standardized protocols for prenatal and postnatal screening, centralized adjudication of outcomes, and long-term follow-up studies to capture neurodevelopmental outcomes. Second, the integration of genetic testing into routine CHD screening protocols may provide valuable prognostic information and inform counseling with regards to the risk of recurrence.9 Third, it is necessary to analyze health economics to determine the cost-effectiveness in resource-limited settings.19 Fourth, the implementation of scientific research should identify barriers and facilitators to optimal screening performance at the healthcare system, provider, and patient levels, with the goal of reducing the substantial geographic and socioeconomic disparities in CHD outcomes.4
Strengths and limitations
The primary strength of this study is its population-based cohort design featuring integrated screening from mid-gestation through to the postnatal period. This minimized the risk of missing cases that would be excluded in studies with shorter follow-up periods or those relying solely on birth defect registries. Second, our standardized classification system aligned with recent national and international studies,4 thus enhancing the comparability of our findings. However, several limitations should also be acknowledged. First, the generalizability of our findings to other regions with different healthcare infrastructures and population characteristics may be limited. Second, the retrospective design is subject to potential unmeasured confounding factors and biases inherent to the review of medical records. Third, the postnatal follow-up to 42 days may have underestimated the prevalence of simple CHD, because some mild forms of CHD, such as small ASD or mild pulmonary stenosis, may present later in infancy. Fourth, we did not possess detailed genetic data relating to the CHD cases, although recent studies suggest that chromosomal abnormalities, particularly trisomy 18, are present in a significant proportion of fetal CHD cases.
Conclusion
In this population-based cohort study spanning from mid-trimester ultrasound to 42 days postnatal, prenatal screening for CHD achieved high levels of efficacy for complex CHD with a detection rate of 89.6%, whereas sequential newborn screening was crucial for the identification of simple CHD with a postnatal detection rate of 68.1%. Collectively, these findings indicated that the pattern of prenatal and postnatal detection varies according to the complexity of CHD.
Acknowledgments
We are particularly grateful to the sonographers, pediatric cardiologists, and research coordinators whose dedication made this study possible. The authors have no conflicts of interest to declare.
Funding
This research was supported by the National Natural Science Foundation of China (References: 82571938, 82371698), Shenzhen Medical Research Fund (Reference: B2404004, C2401035), Shenzhen Key Laboratory of Maternal and Child Health and Diseases (Reference: ZDSYS20230626091559006), Sanming Project of Medicine in Shenzhen (References: SZSM202311010, No. SZSM202211032, and SZSM202311005), Shenzhen Clinical Research Center for Obstetrics and Reproductive Diseases (Reference: LCYSSQ20220823091401002), the National Key Research and Development Program (References: 2021YFC2701601, 2021YFC2701603, 2024YFC2707500).
Author Contributions
Cao L, Zhou QJ, Gui YH and Li XT had full access to all of the data in this study and take responsibility for the integrity of the data and the accuracy of the data analysis. Cao L and Zhou QJ conceived and designed the study and managed the research process. Wang JM and Xiong Y managed the research process. Cao L, Zhang JL, Zhong JY and Zhou QJ performed data analysis. Cao L, Li XT and Zhou QJ led the study set-up and was responsible for the supervision of study sites, data collection, and data management. Cao L assisted with ethical approvals. Cao L and Zhou QJ wrote the first draft of the manuscript and performed the critical revision of the manuscript, and all authors contributed to revising and editing the manuscript. Li XT is the guarantor.
Conflict of Interest
None of the authors have any conflicts of interest to declare.
Data Availability
Data pertaining to individual participants will not be made available publicly. For further detail of the data access policy and procedure, please contact the corresponding authors.
Editor Note
Xiaotian Li is one of the editorial members of Maternal-Fetal Medicine. The article was subject to this journal’s standard procedures, with peer-review handled independently of this editor and the associated group.
Footnotes
Li Cao, Jialin Zhang and Jiayu Wang contributed equally to this study.
How to cite this article: Cao L, Zhang J, Wang J, Wang J, Xiong Y, Zhou Q, Gui Y, Li X. Prenatal and Postnatal Screening for Congenital Heart Disease: Prevalence and Detection Patterns From a Retrospective Cohort Study. Maternal Fetal Med 2026;8(4):352–357. doi: 10.1097/FM9.0000000000000369.
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Associated Data
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Data Availability Statement
Data pertaining to individual participants will not be made available publicly. For further detail of the data access policy and procedure, please contact the corresponding authors.