接受从头变异基因诊断的自闭症儿童的父母在理解生殖决策的含义方面面临挑战。我们采访了28位父母,他们接受了孩子自闭症和智力障碍(ID)的从头遗传诊断。这些遗传变异不仅对孩子的父母有生殖影响,但是孩子和他/她的神经质兄弟姐妹,阿姨们,叔叔们,和表亲。父母通常已经完成了他们的家庭建设,但各不相同,总的来说,结果是否受到影响,或者可能影响了,他们的生殖决定。父母的观点不仅受到遗传因素的影响,还有父母的年龄,财务考虑,为家庭的未来相互竞争的希望和愿景,感知到有能力照顾另一个有类似症状的孩子,以及孩子症状的程度。一对夫妇的成员有时不同意是否要更多的孩子。父母沉思着,也是,植入前基因检测的可能性,尽管对此产生了误解。自闭症儿童在理解遗传诊断对自己的生殖影响方面的能力差异很大。神经典型的后代对自己的孩子不会受到影响感到宽慰。虽然一些自闭症自我倡导者一直担心与自闭症相关的基因检测可能导致优生学,目前的数据,关于从头遗传发现,提出其他观点。这些数据,第一个探索遗传诊断对这一群体的生殖影响的几个关键方面,对未来的实践有重要意义,教育,和研究-例如,关于各种家庭成员。
Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who received de novo genetic diagnoses for their child\'s autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child\'s parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins. Parents had often already finished building their families but varied, overall, in whether the results had affected, or might have influenced, their reproductive decisions. Parents\' views were shaped by factors related to not only genetics, but also parental age, financial considerations, competing hopes and visions for their family\'s future, perceived abilities to care for an additional child with similar symptoms, and the extent of the child\'s symptoms. Members of a couple sometimes disagreed about whether to have more children. Parents pondered, too, the possibility of preimplantation genetic testing, though misunderstandings about it arose. Children with autism vary widely in their abilities to understand the reproductive implications of genetic diagnoses for themselves. Neurotypical offspring were much relieved to understand that their own children would not be affected. While some autism self-advocates have been concerned that genetic testing related to autism could lead to eugenics, the present data, concerning de novo genetic findings, raise other perspectives. These data, the first to explore several key aspects of the reproductive implications of genetic diagnoses for this group, have important implications for future practice, education, and research-e.g., concerning various family members.