中国女性对于FMR1突变产前筛查的态度调查(英文)

Acceptance of prenatal screening for FMR1 mutation in Chinese female population

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 Study the attitude of Chinese female population on prenatal screening of FXS in order to investigate the feasibility of offering prenatal screening. Methods Two hundred and eighty four women with no family history of mental retardation or FXS were recruited in the study. They were grouped into： females married with child （ren） （67/284） , females married without child （54/284）, unmarried single women （163/284）. Then the participants were tested whether they retained the basic genetic knowledge of fragile X by using the adapted questionnaire. Results The proportions of the women who preferred to have prenatal screening for FXS in each group were 77.6%, 66. 7% and 74. 9%. Further more, 95.5% of the women in the first female group would like to terminate the pregnancy if a positive result of FXS was reported, so did 92. 6% of the women in the second female group and 90. 2% of women in the third female group. Conclusion There is a big acceptance of prenatal screening for FMR1 mutation in Chinese female population. Most people would like to take prenatal screening of fragile X syndrome.