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孕期亨廷顿舞蹈症的排除检测。

Exclusion testing in pregnancy for Huntington's disease.

作者信息

Tyler A, Quarrell O W, Lazarou L P, Meredith A L, Harper P S

机构信息

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.

出版信息

J Med Genet. 1990 Aug;27(8):488-95. doi: 10.1136/jmg.27.8.488.

Abstract

The results of DNA analysis are presented for a series of 90 couples, with one partner at 50% risk for Huntington's disease (HD), who were referred for exclusion testing in pregnancy over a three year period. Thirty-seven couples were studied in detail. The aims of the study were to evaluate attitudes towards prenatal testing, before pregnancy and afterwards, and the effectiveness of our counseling and methods of organising the service. Problems which could arise in relation to presymptomatic testing are documented. It is concluded that exclusion testing is a valuable form of prediction for some couples, particularly where family structure does not permit prediction for the person at risk. The need for intensive counselling was highlighted by the difficulties experienced by many couples in understanding how the test worked. Particular ethical and organisational problems may arise which require careful consideration beforehand and some recommendations are made. The proportion of couples who will continue to request exclusion testing as pre-symptomatic testing becomes more widely applicable remains unknown.

摘要

对90对夫妇进行了DNA分析,其中一方患亨廷顿舞蹈症(HD)的风险为50%,这些夫妇在三年期间因孕期排外检测前来就诊。对37对夫妇进行了详细研究。本研究的目的是评估孕前和孕后对产前检测的态度,以及我们咨询服务和服务组织方法的有效性。记录了与症状前检测相关可能出现的问题。得出的结论是,排外检测对一些夫妇来说是一种有价值的预测形式,特别是在家庭结构不允许对有风险的人进行预测的情况下。许多夫妇在理解检测如何运作方面遇到困难,这凸显了强化咨询的必要性。可能会出现一些特殊的伦理和组织问题,需要事先仔细考虑,并提出了一些建议。随着症状前检测变得更广泛适用,继续要求进行排外检测的夫妇比例仍不明朗。

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本文引用的文献

1
Attitudes of patients after "genetic" termination of pregnancy.“基因”终止妊娠后患者的态度。
Br Med J (Clin Res Ed). 1981 Feb 21;282(6264):621-2. doi: 10.1136/bmj.282.6264.621.
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Genetic prediction and family structure in Huntington's chorea.亨廷顿舞蹈症中的遗传预测与家族结构
Br Med J (Clin Res Ed). 1985 Jun 29;290(6486):1929-31. doi: 10.1136/bmj.290.6486.1929.
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Attitudes toward presymptomatic testing in Huntington disease.
Am J Med Genet. 1987 Feb;26(2):271-82. doi: 10.1002/ajmg.1320260205.

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