Abstract:
Background Expanded Carrier Screening (ECS) is an effective measure to prevent birth defects, and public attitudes significantly affect the implementation of ECS. Currently, there is a lack of large-sample studies on public attitudes and influencing factors in China.
Objective This study aims to understand the attitudes of the childbearing-age population in China towards Expanded Carrier Screening and its influencing factors through a cross-sectional questionnaire survey.
Methods This cross-sectional survey was conducted from August 2022 to September 2023. A self-administered questionnaire was used to survey individuals visiting 11 prenatal diagnosis institutions across the country online, to understand their attitudes towards ECS, preferences for implementation, willingness, and influencing factors.
Results A total of 24,923 questionnaires were collected, and after excluding 13 questionnaires from non-Chinese nationals, 24,910 valid questionnaires were obtained, with a validity rate of 99.95%. Among the respondents, 54.42% were female and 45.58% were male, with ages primarily ranging from 26 to 35 years old (19,601 individuals, accounting for 78.69%). 21,110 respondents (84.75%) are actively trying to conceive, and 6,395 respondents (25.67%) reported a history of unexplained miscarriages either by themselves or their partners. Approximately38.99% (9714/24910) of them had no understanding of ECS, yet 91.36% (22757/24910) expressed their willingness to undergo ECS. The most common reason for accepting ECS, accounting for 88.18% (20066/22757), was to understand the risk of having offspring with genetic diseases. The most common reason for refusing ECS, accounting for 33.91% (730/2153), was the belief that there was no need for screening due to the absence of a family history of genetic diseases. 60.22% (13704/24910) of respondents expressed a desire to know all genetic disease carrier information for both partners. 89.64% (20400/24910) preferred a more efficient simultaneous screening model. 80.15% believed that testing should be done during the preconception period, and 60.37% thought it should be conducted during premarital examinations. 63.77% (15886 people) were willing to pay less than 1000 yuan per person. Specific demographic characteristics were positively correlated with the acceptance of ECS: being under 25 years of age (OR=1.289), having a master's degree (OR=1.449), having a monthly income of over 10,000 yuan (OR=1.243), over 20,000 yuan (OR=1.416), over 30,000 yuan (OR=1.357), having medical insurance (OR=1.576), and having heard of (OR=1.734), understanding (OR=2.381), or having a good understanding of ECS (OR=4.055).
Conclusion The survey respondents have limited understanding of expanded carrier screening (ECS), with some misconceptions about ECS present among the participants, but the overall attitude is positive. Younger individuals, those with higher education, higher income, health insurance, and better understanding of ECS are more willing to accept ECS. To reduce the incidence of recessive genetic diseases and promote the benign development of expanded carrier screening, it is necessary to conduct ECS and genetic knowledge popularization campaigns among couples of reproductive age.
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