Carrier testing of children for X-linked diseases:: A retrospective evaluation of experience and satisfaction of subjects and their mothers
Carrier testing of children for X-linked diseases:: A retrospective evaluation of experience and satisfaction of subjects and their mothers
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DOI：
10.1089/gte.1999.3.347
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发表时间：
1999-01-01
期刊：
影响因子：
--
通讯作者：
Kääriäinen, H
中科院分区：
文献类型：
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作者：
Järvinen, O;Lehesjoki, AE;Kääriäinen, H
一般认为，对儿童进行遗传病带菌者检测，不会影响儿童本身的健康，但会影响其未来子女的健康，是有问题的。Hn：这项回顾性研究，我们确定了年轻女性在儿童时期如何经历基因携带者检测。在1984年至1988年期间，66名年轻女性的家庭接受了携带者测试。其中，23名年轻女性的家庭受杜氏肌营养不良症，23名年轻女性的家庭受血友病A，他们的母亲，参加了我们的研究。我们使用了一份问卷，包括多项选择和开放式问题。我们记录了对测试的一般态度，测试的满意度，对测试结果的信任程度，对测试的决定，隐私和对测试年龄的意见。46名接受检测的年轻妇女中有35人（76%）对儿童时期的携带者检测感到满意。然而，在统计学上，检测结果不确定的年轻女性比那些被发现或未被发现携带者更经常对检测不满意（p = 0.002）。在每一组中，母亲的意见与女儿的意见相似。78%的女儿认为携带者检测是一个家庭问题，父母可以做出决定。大约一半的受访者回忆说，他们曾被允许以令人满意的方式参与决策。46名接受检测的年轻妇女中有39人（85%）和46名母亲中有33人（72%）建议在儿童或青少年时期进行携带者检测。
Carrier testing of children for inherited disease that will not affect the health of the children themselves but of their future children is generally regarded as problematic. Hn:this retrospective study, we determined how young women had experienced genetic carrier testing when they were children. The families of 66 young females who had been tested for carriership during childhood between 1984 and 1988, were approached. Of them, 23 young females in families affected by Duchenne muscular dystrophy, and 23 young females in families affected by hemophilia A, and their mothers, participated in our study. We used a questionnaire including,multiple-choice and open-ended questions. We recorded-general attitudes to testing, satisfaction with testing, degree of trust in test results, making decisions regarding testing, privacy, and opinions about age at testing. Thirty-five out of 46 of the young women tested (76%) were satisfied with carrier testing in childhood. However, the young women in whom the test results had-been uncertain were statistically more often unsatisfied with the testing than those who had been found or not found to be carriers (p = 0.002). In each group, the opinions of mothers were parallel to those of their daughters. Seventy-eight percent of daughters regarded carrier testing as a family matter in which parents can make a decision. About half of those tested recalled that they had been allowed to participate in decision-making in a satisfying way. Thirty-nine out of 46 (85%) of the young women tested, and 33/46 (72%) of the mothers, suggested that carrier testing should be performed in childhood or during teenage years.