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目的调查中国女性对于脆性X综合征产前筛查的态度。方法随机调查284位没有智力发育障碍及脆性X综合征家族史的女性,分为已婚已育(67/284)、已婚未育(54/284)及未婚未育(163/284)三组。结果各组愿意接受产前筛查的比率分别为77.6%、66.7%及74.9%。而各组选择在得知产前筛查结果阳性时愿意终止妊娠的比率分别为95.5%、92.6%及90.2%。结论在中国女性群体中对FMR1基因突变进行产前筛查有较高的接受度。大多数人选择接受针对脆X综合征的产前筛查。
Objective To investigate the Chinese women’s prenatal screening attitude toward Fragile X syndrome. Methods A total of 284 women with no family history of mental retardation and Fragile X syndrome were randomly divided into three groups: married and fertile (67/284), married and unmarried (54/284) and unmarried and offspring (163/284) group. Results The rates of receiving antenatal screening in each group were 77.6%, 66.7% and 74.9%, respectively. In each group, 95.5%, 92.6% and 90.2% of those who were willing to terminate their pregnancy when they were positive were found to be prenatal screening. Conclusion The prenatal screening of FMR1 gene mutations in Chinese female population has a high acceptability. Most people choose to receive prenatal screening for the fragile X syndrome.