Over 90% of Chinese Reproductive-Age Respondents Support Including Genetic Screening for Birth Defects in Public Insurance or Free Programs
A recent survey of the Chinese population of childbearing age found that over 90% of respondents support including birth defect screening services, such as non-invasive prenatal genetic testing and newborn genetic testing for hereditary deafness, in free public benefit programs or within the scope of medical insurance coverage.
Birth defects refer to abnormalities in physical structure, function, or metabolism that occur before an infant’s birth. They are a leading cause of early miscarriage, stillbirth, infant and child mortality, and congenital disabilities. These conditions not only severely affect children’s survival and quality of life but also impose significant suffering and burden on affected families and society.
As China’s aging population and declining birthrate become increasingly severe, encouraging childbirth has clearly emerged as a top priority. Meanwhile, strengthening comprehensive prevention and control of birth defects and improving the quality of the newborn population are crucial for advancing the Healthy China initiative and promoting sustainable economic and social development.
Identifying risks of related diseases through screening and implementing early interventions are key measures for the prevention and control of birth defects. In light of the high incidence of birth defects, low public awareness, and relatively low screening rates in certain regions of China, Health News Eight and the Institute of Health Communication at Fudan University jointly initiated the aforementioned survey. By investigating the awareness of birth defects, screening behaviors—specifically non-invasive prenatal testing (NIPT) and newborn genetic screening for hereditary deafness—and their influencing factors among individuals of childbearing age, this study aims to provide a scientific basis for exploring practical pathways to enhance awareness and screening acceptance of birth defects.
Based on a questionnaire survey of more than 3,000 individuals aged 18–50 across 31 provinces (including municipalities directly under the Central Government and autonomous regions) in China, the research team recently released the “Research Report on Awareness of Birth Defects and Screening Behaviors Among People of Childbearing Age in China (2022).”
The report indicates that nearly one-quarter of respondents (23.4%) have a poor understanding of birth defects. Certain groups—such as those with an associate degree or lower, low-income individuals, and those with unhealthy lifestyles—have lower rates of participation in birth defect screening. While over 98% of respondents consider pre-conception health examinations and prenatal disease screening necessary, 71.4% identify cost as the primary factor affecting their willingness to undergo screening. If screening services (such as non-invasive prenatal testing [NIPT] and genetic testing for hereditary deafness) were included in free public health programs or covered by medical insurance, the screening acceptance rate would exceed 95%.
Zheng Pinpin, a professor at the School of Public Health, Fudan University, stated that the report systematically reflects the factors influencing awareness of birth defects and screening behaviors among individuals of childbearing age, providing an important reference for future targeted health education on birth defects and the formulation of relevant health policies.
Prenatal Screening Is a Key Measure for the Prevention and Control of Birth Defects
Both genetic and environmental factors can contribute to the occurrence of birth defects. According to estimates from the "Report on Birth Defect Prevention and Control in China (2012)," the overall incidence rate of birth defects in China is approximately 5.6%. Based on this calculation, there have been at least 600,000 new cases of birth defects annually in China over the past three years.
China adopts a three-tier prevention and control strategy for birth defects. Primary prevention targets the pre-conception stage, with key measures including health education, premarital medical examinations, pre-conception healthcare, and folic acid supplementation, aimed at preventing the occurrence of birth defects. Secondary prevention focuses on the prenatal period, aiming to reduce the birth of infants with severe birth defects through early detection, early diagnosis, and timely intervention. Tertiary prevention integrates prevention and treatment by providing timely and effective diagnosis, treatment, and rehabilitation for children with birth defects, thereby improving their quality of life and minimizing disability.
According to the "Research Report on Awareness and Screening Behaviors Regarding Birth Defects Among the Childbearing-Age Population in China (2022)," prenatal screening and diagnostic methods for birth defects primarily include serological testing (such as Down syndrome screening), imaging examinations (ultrasound and magnetic resonance imaging to detect fetal structural anomalies), molecular biotechnologies (non-invasive prenatal testing, chromosomal microarray analysis, etc.), and invasive prenatal diagnosis (such as chorionic villus sampling and amniocentesis). Serological and imaging examinations are the most routine prenatal screening and diagnostic techniques; however, serological screening has a relatively high false-positive rate, while invasive prenatal diagnosis carries risks of slight miscarriage, infection, and even stillbirth. Non-invasive molecular biological testing technologies can avoid these risks.
Taking Non-Invasive Prenatal Testing (NIPT) as an example, this technology employs high-throughput gene sequencing to detect cell-free fetal DNA fragments in the peripheral blood of pregnant women. It was approved by China’s drug regulatory authorities in 2014 and is currently primarily used to screen for Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13. BGI Genomics, a subsidiary of the BGI Group that received the earliest approval for high-throughput testing applications, has provided nearly ten million NIPT tests to date. At the “Symposium on Disease Prevention and Control System Construction in the New Era and Birth Defect Prevention and Control” held in Beijing last September, Chen Yingyao, Deputy Dean of the School of Public Health at Fudan University, stated that the sensitivity of NIPT is approximately 99%, with a low false-positive rate.
Cost Levels Directly Influence Willingness to Undergo Birth Defect Screening; Service Guarantee Mechanisms Need Improvement
However, China still has a long way to go in the prevention and control of birth defects. There is room for improvement in the accessibility and effectiveness of related prevention and control services. For instance, there is a significant disparity in screening rates for prenatal screening and newborn birth defect screening between economically developed and underdeveloped regions.
This survey reveals that over 98% of respondents consider pre-conception health examinations and prenatal disease screening necessary. However, 71.4% of them believe that the cost of testing is the primary factor influencing their willingness to undergo screening, while 79.6% express concerns about the safety of invasive prenatal screening methods.
Given the risks associated with invasive screening, a more prudent approach for trisomy 13, trisomy 18, and trisomy 21 syndromes is to first perform non-invasive prenatal testing (NIPT), followed by further invasive diagnostic procedures if the results are positive.
In 2016, the Chinese government issued a policy document explicitly designating non-invasive prenatal genetic testing as a supplement to conventional prenatal screening and diagnostic techniques. The standardized application of new technologies, such as high-throughput gene sequencing, for birth defect screening was also incorporated into the National Comprehensive Prevention and Control Plan for Birth Defects, released in 2018.
However, this survey found that among 2,006 respondents with a history of childbirth, only 34.4% reported that they or someone they know had undergone non-invasive prenatal genetic screening for Down syndrome. Meanwhile, only 31.7% stated that their child (or a child they know) had undergone genetic testing for hereditary deafness (genetic testing for hereditary deafness identifies the cause of deafness at the molecular level, which can significantly reduce missed diagnoses, particularly in children with late-onset deafness).
The research team's analysis suggests that,AcceptGeneThe overall screening rate remains low,May be affected byEconomic conditions and accessibility of health services, etc.FactorsImpact.In this survey,Over90% ofIntervieweeSupport the inclusion of non-invasive prenatal genetic screening and hereditary deafness gene testing in free servicesHuiminItem or Medical InsurancePaymentScope，Proportion of Participants Willing to Actively Undergo Screening After EnrollmentMore than95%。
In fact, China has already implemented free prenatal screening and prenatal diagnosis to a certain extent. According to the National Health Commission, 19 provinces, including Shandong, Henan, Hunan, and Shaanxi, have rolled out province-wide policies for free prenatal screening and diagnosis through measures such as government procurement of services, implementation of major special projects, and inclusion in medical insurance reimbursement.
Some regions have also simultaneously implemented free non-invasive prenatal genetic testing and newborn deafness gene screening.
For example, Hebei Province has partnered with BGI Genomics to provide free prenatal screening through the comprehensive adoption of non-invasive prenatal testing (NIPT), achieving initial comprehensive prevention and control of chromosomal trisomy-related birth defects across a region with a population of over 70 million. Meanwhile, Hebei Province is further expanding its birth defect prevention and control efforts to include hereditary hearing impairment. By the end of June 2021, a cumulative total of 660,000 free genetic tests for hereditary deafness had been conducted throughout the province.
A health economics assessment by Hebei Medical University showed that the cost-benefit ratio of the aforementioned public welfare projects in Hebei Province for Down syndrome prevention was 1:11.25. When combined with an analysis of the benefits of preventing other chromosomal abnormalities, the overall cost-benefit ratio reached 1:16.56, meaning that for every 1 yuan invested by the government, a return of 16.56 yuan was achieved.
Chen Yingyao stated that, based on the screening attitudes of the study participants and the health economic evaluation results from relevant regions, exploring the use of public funds to purchase screening services helps improve the accessibility of birth defect prevention measures and significantly enhances the public’s sense of gain. Regions with the necessary conditions should consider adopting and promoting this approach.
Low Awareness of Birth Defects Among Certain Populations: The Need for Enhanced Health Education
Prevention and control of birth defects is not only a key task in national public health work, but also a critical health issue for individuals of childbearing age—particularly older adults at high risk who are planning second or third pregnancies.
For individuals planning a pregnancy, preventing birth defects is a complex undertaking. The level of attention paid to birth defects and the extent of knowledge about them directly influence the willingness and proactivity of people of childbearing age to adopt preventive measures, undergo relevant screening and diagnostic tests, and seek counseling and advice.
The survey indicates that individuals who are highly concerned about birth defects are more than three times as likely to undergo non-invasive prenatal genetic testing compared to those who are not concerned about birth defects.
The survey also revealed that 23.4% of the population had a poor level of knowledge about birth defects (scoring below 60 out of 100). Significant disparities in awareness of birth defects were observed across demographic characteristics, including age, gender, education level, income level, household registration status (hukou), preconception planning status, and reproductive history. Knowledge levels regarding birth defects were relatively lower among males, individuals with an associate degree or below, those with low income (monthly income of RMB 8,000 or less), the migrant population, individuals not actively planning for pregnancy, and those with unhealthy lifestyle habits (such as smoking and prolonged sedentary behavior).
△Distribution of Knowledge Scores on Birth Defects Among Survey Respondents
“Birth defects are often multifactorial in origin, and as we have not yet fully elucidated their etiologies, they can sometimes occur unexpectedly—for instance, seemingly healthy couples may give birth to a child with Down syndrome,” pointed out Professor Jiang Hong from the School of Public Health at Fudan University and member of the Women’s Healthcare Branch of the Chinese Preventive Medicine Association. She emphasized that the key to preventing and controlling birth defects lies in enhancing awareness among individuals of reproductive age and effectively implementing tertiary prevention measures. On one hand, health education should be strengthened for those planning pregnancy, particularly among groups with limited knowledge, to help them avoid risk factors that may lead to birth defects, such as hazardous environmental exposures and unhealthy lifestyle habits. On the other hand, planned and prepared parenthood should be advocated. “We have found that a considerable proportion of pregnancies are unintended, which means that certain preconception risk factors may not have been adequately addressed, thereby increasing the risk of birth defects.”
On how to improve health literacy among people of childbearing age, Zheng Pinpin pointed out that we live in an era where information dissemination is highly developed. Many people do not lack access to information; rather, they struggle to distinguish fact from fiction. Therefore, it is necessary to establish an authoritative and professional health literacy information repository for this population. By leveraging the expertise of specialists, we can ensure that disseminated information is scientific, professional, and evidence-based. At the same time, specialized information must be translated into formats that are engaging and accessible to the general public, thereby enhancing the effectiveness of communication. “This is not solely the responsibility of health departments and medical institutions; media outlets, enterprises, and communities should also actively participate. Through multiple channels, health knowledge should reach people of childbearing age, particularly the vulnerable groups with lower levels of health awareness identified in this study.”
