Prevalence of Congenital Heart Disease at Live Birth in China

Zhao, Qiyi; Liu, Fang; Wu, Lin; Ma, Xiaojing; Niu, Conway; Huang, Guoying

doi:10.1016/j.jpeds.2018.08.040

Cited by 167 publications

(134 citation statements)

References 26 publications

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“…Beijing and Germany [19,27]. The above findings suggest that specific health care services should be strengthened in targeted population.…”

Section: Patients' Characteristics and Risk Factors For Chdmentioning

confidence: 81%

“…China is facing a great burden of CHD for its huge population, where the prevalence of CHD vary from 7.6 to 22.9 per 1000 live births or perinatal infants in previous researches [14][15][16][17][18][19]. Studies on the epidemiology of CHD in China usually focus on births at and over 28 gestational weeks, and to fully understand the occurrence of CCHD is limited.…”

mentioning

confidence: 99%

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Epidemiology, Prenatal Diagnosis, and Neonatal Outcomes of Congenital Heart Defects in Eastern China: A Hospital-Based Multicenter Study

zhang

Sun

Zhu

et al. 2020

Preprint

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Background : Congenital heart disease (CHD) is one of the most common birth defect. Currently, the reported occurrence of CHD continues to increase at global or regional level. In 2013, Chinese government announced to end 1-child birth policy. We aimed to update the incidence, prenatal diagnosis, and neonatal outcomes of CHD since the ending of 1-child policy, in eastern China. Study design : Data were obtained from the Zhejiang provincial birth defects surveillance system. CHD identified during 2014-2018 were analyzed. Chi-square test, odds ratio (OR) and 95% confidence interval (CI) were used to explore incidence trends, prenatal diagnosis, birth outcomes and associated risk factors with CHD. Results : Overall, 8,546 of 534,002 births were identified with CHD. During the period, the overall incidence of CHD increased significantly, giving an average incidence as 16.0 per 1000 births (95% CI 15.69-16.32). However, the incidence of critical CHD (CCHD) remained stable over time (1.6 per 1000 births, 95% CI 1.47-1.69).Women aged less than 20 years (OR2.1, 95%CI 1.9-2.3) or ≥35 years (OR 1.2, 95% CI 1.2-1.3) were at higher risk of CHD than women aged 21-34 years. Births in urban areas (OR 1.2, 95% CI 1.2-1.3), male sex (OR 1.3, 95% CI 1.3-1.4), and multiple births (OR 4.0, 95% CI 3.7-4.4) had a higher risk of CHD than births in rural areas, female sex, and singletons, respectively. The three major subtypes of CHD were atrial septal defect (ASD, 68.0%), patent ductus arteriosus (PDA, 34.7%), and ventricular septal defect (VSD, 6.4%). A total of 22.2% of CHD was detected prenatally. Regarding to perinatal outcomes, there were 1457 (17.1%) stillbirths, 106 (1.2%) early neonatal deaths, and 6983 (81.7%) live births. Conclusion : The high incidence of CHD might be attributable to the large proportion of mild CHD. Pregnancies in urban areas, male births, and younger or older women were the risk factors for CHD. The prenatal detection rate for overall CHD was low, whereas the rate for CCHD was similar or even higher than other studies. The neonatal outcomes were comparable to previous literatures.

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“…Beijing and Germany [19,27]. The above findings suggest that specific health care services should be strengthened in targeted population.…”

Section: Patients' Characteristics and Risk Factors For Chdmentioning

confidence: 81%

mentioning

confidence: 99%

Epidemiology, Prenatal Diagnosis, and Neonatal Outcomes of Congenital Heart Defects in Eastern China: A Hospital-Based Multicenter Study

zhang

Sun

Zhu

et al. 2020

Preprint

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“…The overall prevalence of congenital heart defects (CHD) is 8.98 per 1000 live births in China,1 of which including two to three neonates with critical CHD (CCHD) which can cause death or requiring invasive surgical intervention during neonatal period 2. CHD is the most common type of birth defect and a leading cause of infant mortality in recent years in China 3.…”

Section: Introductionmentioning

confidence: 99%

“…Policies should be formulated to address the epidemiology of CHD in deprived areas of middle-western China to better allocate medical resources and to develop local training programmes to screen and diagnose CHD in these areas. A national CHD screening network and a so-called ‘green channel’ network are also needed to improve the diagnosis rate of CHD in these areas and to establish follow-up and treatment plans 1. Public investment and insurance coverage for children with CCHD are crucial for exploiting the health benefits of the screening 39.…”

Section: Introductionmentioning

confidence: 99%

Screening for congenital heart defects: diversified strategies in current China

Liu

et al. 2019

World Jnl Ped Surgery

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BackgroundCongenital heart defects (CHD) is the most common type of birth defect and a leading cause of infant mortality in China. Detection of CHD during newborn is still challenging. The contradiction between the increasingly mature technology of diagnosis and treatment and the inability of early detection is the biggest current dilemma. A few pilot studies attempt to establish the universal screening for CHD in newborns; however, the rate of misdiagnosis is still high in most Chinese hospitals, especially in some undeveloped middle-western regions.Data sourcesBased on the recent publications on screening of congenital heart diseases in China. We reviewed the use of diversified screening strategies in current China.ResultsPrenatal diagnosis by fetal echocardiography and postnatal detection by pulse oximetry combined with clinical assessment are the useful methods for CHD screening in most areas. The altitude should be taken into account when using pulse oximetry in the middle-western areas of China, where the incidence of CHD maybe higher. Echocardiography is suitable for CHD screening in almost all areas but it could add to financial burden in the developing regions. Genetic analysis could assist clinical doctors to perform more earlier screening and give better counseling regarding the outcome. Due to disparities in economic and medical resources, the screening system should be carried out from multiple perspectives according to the present economic development. Notably, follow-up is an important issue in the screening of CHD, especially for the asymptomatic babies who discharged home. Policies should be formulated to address the epidemiology of CHD in deprived areas to better allocate medical resources and to develop local training programmes to screen and diagnose CHD.ConclusionsDiversified strategies are available in current China. The two-indicator method for CHD screening is recommended to be implemented in routine postnatal care. We can do more in screening for CHD in the future.

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“…Congenital heart defect (CHD) is one of the most common cardiovascular diseases, with an incidence of approximately 0.8% of livebirths worldwide (van der Linde et al, ). Similarly, the incidence of CHD is ~8.98 per 1,000 live births in China (Zhao et al, ). One to two of every 1,000 newborns have critical congenital heart disease (CCHD), which is defined as a disease that leads to death or needs positive intervention during the neonatal period (Chang, Gurvitz, & Rodriguez, ; Zhao et al, ).…”

Section: Introductionmentioning

confidence: 99%

Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect

Zhao

Zhan

Chen

et al. 2019

Genesis

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Summary Congenital heart defect (CHD) is one of the most common cardiovascular diseases, affecting approximately 0.8% of live births. The transcription factor GATA4 has been known to play a key role in cardiac development. In this study, we performed whole exome sequencing in nine unrelated CHD patients and found two rare deleterious missense variants in the GATA4 gene (c.C487T,p.P163S and c.C1223A,p.P408Q) (ExAC <0.001 and CADD >15) in three cases that were confirmed by Sanger sequencing. Subsequently, these two variants were screened for in an additional 226 patients with CHD and 206 healthy controls by Sanger sequencing, and no variants were observed. These two variants were predicted to be damaging to protein function using a functional prediction program. Co‐IP indicated that both of the GATA4 variants (P163S and P408Q) blocked heterodimer formation between GATA4 and ZFPM2 protein. Immunofluorescence showed that the two GATA4 variants diminished the colocalization formation between GATA4 and ZFPM2 protein compared to that of WT protein. These findings indicate that the two rare variants of GATA4 might disturb its interaction with ZFPM2 and influence corresponding downstream gene activity, suggesting that the GATA4 variants may be associated with the pathogenesis of CHD.

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Prevalence of Congenital Heart Disease at Live Birth in China

Cited by 167 publications

References 26 publications

Epidemiology, Prenatal Diagnosis, and Neonatal Outcomes of Congenital Heart Defects in Eastern China: A Hospital-Based Multicenter Study

Epidemiology, Prenatal Diagnosis, and Neonatal Outcomes of Congenital Heart Defects in Eastern China: A Hospital-Based Multicenter Study

Screening for congenital heart defects: diversified strategies in current China

Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect

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