Somer M, Mustonen H, Norio R
Department of Medical Genetics, Finnish Population and Family Welfare Federation, Helsinki.
Clin Genet. 1988 Dec;34(6):352-65. doi: 10.1111/j.1399-0004.1988.tb02893.x.
Of the families who had received genetic counselling between 1972 and 1981, 791 replied to a questionnaire which covered recall of information, post-counselling reproduction and attitudes towards counselling and prenatal diagnosis. Eighty percent had adequate knowledge of mode of inheritance and 74% of recurrence risk. Knowledge of mode of inheritance was poorest in multifactorial transmission (63%) and knowledge of recurrence risk in X-chromosomal disorders (61%). Forty-five per cent of the families had started a pregnancy after the counselling. 25%). Early lethality of the disorder and feasibility of a prenatal study contributed to positive reproductive decisions. Nine per cent of the children born after the counselling were affected by the disorder in question. The observed risks tended to match well with the expected ones. Sixty-two per cent of the respondents felt that the counselling had had a great or moderate impact on their reproductive plans. Forty-two per cent expressed a wish to hear the counsellor's opinion in addition to the facts. This was more common when the disorder was severe. Although most couples (53%) wished to have a prenatal study, if feasible, and abort an affected foetus, 16% were against abortion in such a case and 31% wished to have the study but were ambiguous about an abortion.
在1972年至1981年间接受过遗传咨询的家庭中,791户家庭回复了一份问卷,该问卷涵盖了信息回忆、咨询后的生育情况以及对咨询和产前诊断的态度。80%的家庭对遗传方式有足够的了解,74%的家庭对复发风险有足够的了解。在多因素遗传中,对遗传方式的了解最差(63%),在X染色体疾病中,对复发风险的了解最差(61%)。45%的家庭在咨询后开始怀孕。该疾病的早期致死率和产前研究的可行性促成了积极的生育决定。咨询后出生的孩子中有9%受相关疾病影响。观察到的风险与预期风险往往匹配良好。62%的受访者认为咨询对他们的生育计划有很大或中等程度的影响。42%的人表示除了了解事实外,还希望听取咨询师的意见。当疾病严重时,这种情况更为常见。尽管大多数夫妇(53%)希望在可行的情况下进行产前检查并终止受影响胎儿的妊娠,但16%的夫妇在这种情况下反对堕胎,31%的夫妇希望进行检查,但对是否堕胎态度模糊。