Emery A E, Watt M S, Clack E
Br Med J. 1973 Mar 24;1(5855):724-6. doi: 10.1136/bmj.1.5855.724.
In a follow-up study of 104 subjects referred for genetic counselling between 1965 and 1969 all were at risk of having children with a variety of serious genetic disorders. Most subjects were in social classes III and IV, were married, in their late 20s, and already had an affected child. Sixty-three per cent. were referred by hospital consultants, 27% by their general practitioners, and 10% were self-referrals. All of those counselled appeared to have appreciated the genetic implications, although four overestimated the risks and 11 underestimated the risks.Of those at high risk (greater than 1 in 10) of having an affected child 10 out of 55 couples "planned" further pregnancies despite the risks. In two this was because they had been unable to adopt a child, in four because they had no living children and the disorders in question usually resulted in stillbirth or death in infancy so that the "burden" of an affected child would be of relatively short duration, and one mother had had antenatal diagnosis and selective abortion. Most of the couples in the low-risk group (less than 1 in 20) were reassured and planned further pregnancies.
在一项对1965年至1969年间被转介进行遗传咨询的104名受试者的随访研究中,所有人都有生育患有各种严重遗传疾病孩子的风险。大多数受试者属于社会阶层III和IV,已婚,接近30岁,并且已经有一个患病孩子。63%是由医院顾问转介的,27%是由他们的全科医生转介的,10%是自我转介的。所有接受咨询的人似乎都理解了遗传方面的影响,尽管有4人高估了风险,11人低估了风险。在那些生育患病孩子风险高(大于十分之一)的人中,55对夫妇中有10对“计划”了进一步怀孕,尽管存在风险。其中两对是因为他们无法领养孩子,四对是因为他们没有在世的孩子,而且所讨论的疾病通常导致死产或婴儿期死亡,所以患病孩子的“负担”持续时间相对较短,还有一位母亲进行了产前诊断并选择性堕胎。低风险组(小于二十分之一)的大多数夫妇都放心了,并计划进一步怀孕。