育龄期人群对扩展性携带者筛查的了解、态度、支付意愿、实施偏好以及影响其接受筛查的关联因素:一项多中心横断面调查研究  

Knowledge of,attitudes to,willingness to pay for,and preferences for implementation of expanded carrier screening among reproductive-age population,and associated factors of acceptance of screening:A multicenter cross-sectional survey study

作　　者：付晓琳 侯伟 张蔓丽[3] 毛翛 文娟[5] 刘珊玲[6] 袁静[7] 钱叶青 赵彦艳[9] 罗春玉[10] 戚庆炜[11] 尹爱兰[12] 李树铁[13] 张春燕[3] 周红辉[3] 卢彦平[2] FU Xiaolin;HOU Wei;ZHANG Manli;MAO Xiao;WEN Juan;LIU Shanling;YUAN Jing;QIAN Yeqing;ZHAO Yanyan;LUO Chunyu;QI Qingwei;YIN Ailan;LI Shutie;ZHANG Chunyan;ZHOU Honghui;LU Yanping(Chinese PLA Medical School,Beijing 100853,China;Department of Gynecology and Obstetrics,the First Medical Center,Chinese PLA General Hospital,Beijing 100853,China;Medical Innovation Research Division,Chinese PLA General Hospital,Beijing 100853,China;Department of Medical Genetics,Hunan Provincial Maternal and Child Health Care Hospital,Changsha 410028,Hunan Province,China;Medical Genetics Research Center,School of Life Sciences,Central South University,Changsha 410078,Hunan Province,China;Department of Medical Genetics/Prenatal Diagnosis Center,West China Second University Hospital,Chengdu 610044,Sichuan Province,China;Prenatal Diagnosis Center,The First Affiliated Hospital of Anhui Medical University,Hefei 230022,Anhui Province,China;Department of Reproductive Genetics,Women’s Hospital School of Medicine Zhejiang University,Hangzhou 310003,Zhejiang Province,China;Department of Clinical Genetics,Shengjing Hospital of China Medical University,Shenyang 110022,Liaoning Province,China;Center of Prenatal Diagnosis,Women's Hospital of Nanjing Medical University,Nanjing Women's and Childre Healthcare Hospital,Nanjing 210004,Jiangsu Province,China;Department of Obstetrics and Gynecology,Peking Union Medical College Hospital,Peking Union Medical College&Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Gynecology and Obstetrics,Nanfang Hospital of Southern Medical University,Guangzhou 510515,Guangdong Province,China;Office of Standardized Training of Residents,The First Affiliated Hospital of Hebei North University,Zhangjiakou 075000,Hebei Province,China)

机构地区：[1]解放军医学院,北京100853 [2]解放军总医院第一医学中心妇产科,北京100853 [3]解放军总医院医学创新研究部,北京100853 [4]湖南省妇幼保健院遗传科,湖南长沙410028 [5]中南大学医学遗传学研究中心,湖南长沙410078 [6]四川大学华西第二医院遗传科/产前诊断中心,四川成都610044 [7]安徽医科大学第一附属医院产前诊断中心,安徽合肥230022 [8]浙江大学医学院附属妇产医院生殖遗传科,浙江杭州310003 [9]中国医科大学附属盛京医院临床遗传科,辽宁沈阳110022 [10]南京市妇幼保健院产前诊断中心,江苏南京210004 [11]中国医学科学院北京协和医院妇产科,北京100730 [12]南方医科大学南方医院妇产科,广东广州510515 [13]河北北方学院附属第一医院住培办,河北张家口075000

出　　处：《解放军医学院学报》2024年第5期449-456,共8页Academic Journal of Chinese PLA Medical School

基　　金：国家重点研发计划(2021YFC1005303)。

摘　　要：背景出生缺陷是全球范围内影响人口健康水平的公共卫生问题,而扩展性携带者筛查(expanded carrier screening,ECS)是预防出生缺陷的有效措施。目的了解我国育龄期人群对扩展性携带者筛查的认知、态度及影响其决策的关联因素。方法本研究为多中心横断面调查研究。2022年8月—2023年9月,通过自制调查问卷对到访全国11家产前诊断机构的育龄期人群进行在线调查,了解调查对象对扩展性携带者筛查的态度、实施偏好、支付意愿,Logistic分析影响其决策的关联因素。结果11家机构共计回收24923份问卷,有效问卷24910份,有效率99.95%。被调查的对象中,54.42%为女性,45.58%为男性,年龄集中在26~35岁区段(19601人,78.69%)。多数(84.75%)调查对象正在备孕(21110人),自身或配偶有不明原因流产史的有6395人(25.67%)。38.99%(9714/24910)的调查对象对扩展性携带者筛查完全不了解,91.36%(22757/24910)的调查对象表示愿意接受扩展性携带者筛查。愿意接受ECS的原因中占比最高的是希望通过ECS了解生育患有遗传病后代的风险,占88.18%(20066/22757);拒绝接受ECS的原因中占比最高的是认为家族中没有遗传病史,无须筛查,占33.91%(730/2153)。60.22%(13704/24910)的调查对象表示希望获知夫妻双方全部的遗传病携带信息。89.64%(20400/24910)的调查对象更偏向高效率的同步筛查模式。80.15%的调查对象认为应在备孕期进行检测,60.37%的调查对象认为应在婚检时进行检测。超过60%的调查对象(15886人,63.77%)表示接受单人1000元以下付费。Logistic回归显示年轻人群,学历越高,夫妇月收入越高,有医疗保险,听说过ECS以及了解ECS的程度越高的育龄人群愿意接受ECS检测(OR>1,P<0.05)。结论育龄人群对扩展性携带者筛查了解有限,部分调查对象对ECS存在误解,但总体态度积极。年轻、高学历、高收入、有医保以及对ECS认知程度好的人群更愿意接Background Birth defects are a public health issue worldwide.Expanded carrier screening(ECS)is an effective measure to prevent birth defects.Objective To understand the knowledge of,attitudes to,and behavior of ECS in the childbearingage population in China and influencing factors of the willingness of accepting ECS.Methods This cross-sectional study was conducted to survey individuals visiting 11 prenatal diagnosis institutions across the country from August 2022 to September 2023.Via a online self-administered questionnaire the survey was mainly to understand attitudes towards ECS,preferences for implementation,willingness to accept ECS,and associated factors were analyzed by logistic regression.Results A total of 24923 questionnaires were collected,after excluding 13 questionnaires from non-Chinese nationals,24910 valid questionnaires were obtained,with a validity rate of 99.95%.Among the respondents,54.42%were female and 45.58%were male,with age primarily ranging from 26 to 35 years old(19601 individuals,accounting for 78.69%).21110 respondents(84.75%)were actively trying to conceive,and 6395 respondents(25.67%)reported a history of unexplained miscarriages either by themselves or their partners.Approximately 38.99%(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 was to understand the risk of having offspring with genetic diseases,accounting for 88.18%(20066/22757);The most common reason for refusing ECS was the belief that there was no need for screening due to the absence of a family history of genetic diseases,accounting for 33.91%(730/2153).About 2/3(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.About 2/3(15886,

关 键 词：扩展性携带者筛查 优生优育 单基因遗传病 横断面调查 问卷调查 

分 类 号：R715.5[医药卫生—妇产科学]