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遗传咨询的前瞻性研究。

Prospective study of genetic counselling.

作者信息

Emery A E, Raeburn J A, Skinner R, Holloway S, Lewis P

出版信息

Br Med J. 1979 May 12;1(6173):1253-6. doi: 10.1136/bmj.1.6173.1253.

Abstract

A prospective study was carried out on 200 consecutive subjects seen for counselling (consultands) for serious genetic disorders. Educational and social background of consultands and their knowledge and understanding of their particular problem were assessed before counselling, and their response was determined immediately afterwards and three months and two years later by an independent observer not concerned in the genetic counselling. The husband's educational background was particularly important in influencing a couple's comprehension of counselling. X-linked recessive and chromosomal disorders presented the most difficulties in comprehension. The counsellors' assessment of comprehension was a good guide to the consultands' comprehension as assessed at subsequent follow-up. The proportion deterred from having children increased with time and over a third had been sterilised within two years of counselling. It is suggested that follow-up after counselling should be routine, especially when the counsellor suspects that comprehension has not been good, in X-linked recessive and chromosomal disorders, and when the risks of having an affected child are considered to be high.

摘要

对200名因严重遗传疾病前来咨询(咨询对象)的连续受试者进行了一项前瞻性研究。在咨询前评估了咨询对象的教育和社会背景以及他们对自身特定问题的了解和认识,并在咨询后立即以及三个月和两年后由一名与遗传咨询无关的独立观察者确定他们的反应。丈夫的教育背景在影响夫妻对咨询的理解方面尤为重要。X连锁隐性和染色体疾病在理解上存在最大困难。咨询师对理解的评估是后续随访中评估咨询对象理解情况的良好指导。因咨询而决定不生育的比例随时间增加,超过三分之一的人在咨询后两年内进行了绝育。建议咨询后的随访应成为常规,特别是当咨询师怀疑理解情况不佳时,在X连锁隐性和染色体疾病中,以及当生育患病孩子的风险被认为很高时。

相似文献

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Prospective study of genetic counselling.遗传咨询的前瞻性研究。
Br Med J. 1979 May 12;1(6173):1253-6. doi: 10.1136/bmj.1.6173.1253.
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本文引用的文献

1
Eye examinations in patients taking oral contraceptives.对服用口服避孕药患者的眼部检查。
Fertil Steril. 1969 Jan-Feb;20(1):67-74. doi: 10.1016/s0015-0282(16)36906-0.
3
Genetic clinic. A follow-up.
Lancet. 1971 Feb 6;1(7693):281-5. doi: 10.1016/s0140-6736(71)91016-6.

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