Related Experiment Video
Updated: Jul 19, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated
Zhenren Peng1,2,3,4, Jie Wei1,2,3,4, Biyan Chen1,2,3,4
1Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Insights
Birth defects (BDs) prevalence increased significantly in Guangxi from 2016-2020, particularly congenital heart defects (CHDs). Older maternal age, higher education, and diabetes were identified as key risk factors for BDs.
Area of Science:
- Epidemiology
- Public Health
- Reproductive Health
Background:
- Birth defects (BDs) represent a complex global health challenge with diverse etiologies.
- Understanding regional epidemiological patterns and risk factors is crucial for effective prevention strategies.
Purpose of the Study:
- To investigate the epidemiological trends of birth defects in Guangxi, China, from 2016 to 2020.
- To identify associated risk factors contributing to the prevalence of birth defects in the region.
Main Methods:
- Utilized data from the Guangxi birth defects monitoring network (2016-2020) for perinatal infants.
- Employed Poisson regression to analyze prevalence trends and Spearman correlation to identify risk factors.
- Examined infant gender, maternal age, maternal education, pre-gestational diabetes mellitus (PGDM), gestational diabetes mellitus (GDM), and family history.
Main Results:
- A total of 44,146 infants with BDs were monitored, with an overall prevalence of 121.71 per 10,000.
- A significant increasing trend in BD prevalence was observed (PRR=1.116), with congenital heart defects (CHDs) showing the most substantial rise (PRR=1.300).
- Positive correlations were found between BDs and advanced maternal age (R=0.732), higher maternal education (R=0.586), and diabetes (PGDM/GDM) (R=0.711).
Conclusions:
- The study highlights a significant increase in birth defect prevalence in Guangxi, with CHDs being a major concern.
- Advanced maternal age, higher educational attainment, and pre-existing or gestational diabetes are identified as significant risk factors.
- These findings underscore the need for targeted interventions and improved prenatal care in the region.
Background:
Birth defects (BDs) are associated with many potential risk factors, and its causes are complex.
Objectives:
This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs.
Methods:
BDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs.
Results:
Between 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58-122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108-1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283-1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = -0.536, P < 0.05) and a birth of a fetus with BDs (R = -0.528, P < 0.05) were negatively correlated with BDs.
Conclusion:
A significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.
More Related Videos
Related Concept Videos
Teratogenicity
Principles of Disease Surveillance

