Varekamp I, Suurmeijer T P, Bröcker-Vriends A H, van Dijck H, Smit C, Rosendaal F R, Briët E
Department of Health Sciences, State University Groningen, The Netherlands.
Am J Med Genet. 1990 Sep;37(1):147-54. doi: 10.1002/ajmg.1320370134.
Experiences with and attitudes toward carrier testing and prenatal diagnosis were evaluated among 549 potential and obligate carriers of hemophilia. Almost everybody considered carrier testing to be useful. Forty-nine percent had been tested for carriership, 10% had only received limited information, and 41% had not been tested and had never received information about the heredity of hemophilia. More married women, women with severe hemophilia in their family, and women closely related to a patient with hemophilia had been tested for carriership than others. Lack of information about the probability of carriership for female relatives and a similar ignorance of the possibility of carrier testing were important reasons for not having been tested. Eleven percent of the women with one or more children had undergone prenatal diagnosis in the past. Thirty-one percent of the study population would favour prenatal diagnosis with the implication of a potential abortion in early pregnancy and half of them would choose this option even in late pregnancy. Most of the women who objected to prenatal diagnosis did so because they did not consider hemophilia to be a sufficiently serious disorder to justify an abortion.
对549名潜在的和有义务进行检测的血友病携带者进行了关于携带者检测和产前诊断的经历及态度评估。几乎每个人都认为携带者检测是有用的。49%的人进行过携带者检测，10%的人仅获得了有限的信息，41%的人未进行检测且从未获得过关于血友病遗传的信息。与其他人相比，更多已婚女性、家族中有严重血友病患者的女性以及与血友病患者有密切亲属关系的女性进行了携带者检测。女性亲属携带者概率信息的缺乏以及对携带者检测可能性的类似无知是未进行检测的重要原因。11%育有一个或多个孩子的女性过去曾接受过产前诊断。31%的研究人群会支持产前诊断，这意味着早期妊娠可能会堕胎，其中一半人甚至在妊娠晚期也会选择这一选项。大多数反对产前诊断的女性这样做是因为她们认为血友病并非严重到足以证明堕胎合理的疾病。
