Briard M L, Frézal J, Kaplan J
J Genet Hum. 1977 Oct;25(3):157-76.
The authors, from their personal experience arising from 766 consultations, show that the percentages of marriages or procreations in subjects themselves suffering from a disorder, or with affected relatives, are independent of the risk estimated for their offspring. The procreation rate in couples with affected children is lower in high risk cases and depends also on the family composition. It appears that this procreation is voluntary in the great majority of cases because there were very few terminations of pregnancy among the couples seen before procreation. The estimated risks correspond to the risks observed but the authors insist that there is a relatively high proportion (4.4 per cent) of children born with a disorder different from that which motivated the consultation.
作者基于766次咨询的个人经验表明,自身患有疾病或亲属患病的人群中,结婚或生育的比例与为其后代估计的风险无关。在高风险情况下,子女患病的夫妇的生育率较低,并且还取决于家庭构成。在绝大多数情况下,这种生育似乎是自愿的,因为在生育前接受咨询的夫妇中很少有终止妊娠的情况。估计的风险与观察到的风险相符,但作者坚持认为,有相对较高比例(4.4%)的孩子出生时患有与咨询原因不同的疾病。