Cahn Suzanne, Rosen Ami, Wilmot George
Cancer Genetics Program, Northside Hospital Cancer Institute Atlanta Georgia USA.
Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA.
Mov Disord Clin Pract. 2019 Nov 25;7(1):37-44. doi: 10.1002/mdc3.12859. eCollection 2020 Jan.
In vitro fertilization with preimplantation genetic testing is a growing reproductive option for people who want to avoid passing a single-gene condition on to their offspring. The spinocerebellar ataxias are a group of rare, autosomal-dominant neurodegenerative disorders which are strong candidates for the use of this technology.
This study aimed to assess knowledge of genetic risk and perceptions of reproductive options in individuals with a diagnosis of spinocerebellar ataxia.
We administered an online survey to U.S. residents of reproductive age who have been clinically or genetically diagnosed with spinocerebellar ataxia. We assessed their understanding of inheritance and their reproductive opinions.
Of 94 participants, 70.2% answered all four inheritance questions correctly. The majority felt they could describe each reproductive option except prenatal diagnosis. Individuals were most interested in in vitro fertilization with preimplantation genetic testing: 48.4% (45 of 93) said they would consider it. They were least interested in prenatal diagnosis and donated embryos or gametes. Having spinocerebellar ataxia with anticipation and choosing inheritance risk as an important factor were both significantly associated with interest in preimplantation genetic testing. Choosing religion/morality as an important factor was associated with less interest in preimplantation genetic testing and prenatal diagnosis.
Our population displayed basic knowledge of inheritance risk, and the majority wanted to avoid having affected children. Consistent with literature for other autosomal-dominant adult-onset conditions, individuals showed a preference for preimplantation genetic testing. Health care providers should continue to educate patients about reproductive options and their risks and limitations.
对于那些希望避免将单基因疾病遗传给后代的人来说，体外受精结合植入前基因检测是一种越来越受欢迎的生殖选择。脊髓小脑共济失调是一组罕见的常染色体显性神经退行性疾病，是这项技术的有力适用对象。
本研究旨在评估被诊断为脊髓小脑共济失调的个体对遗传风险的了解以及对生殖选择的看法。
我们对临床诊断或基因诊断为脊髓小脑共济失调的美国育龄居民进行了一项在线调查。我们评估了他们对遗传的理解以及他们的生殖观点。
在94名参与者中，70.2%正确回答了所有四个遗传问题。大多数人认为他们可以描述除产前诊断之外的每种生殖选择。个体对体外受精结合植入前基因检测最感兴趣：48.4%（93人中的45人）表示他们会考虑。他们对产前诊断以及捐赠胚胎或配子最不感兴趣。患有伴有遗传早现的脊髓小脑共济失调以及将遗传风险作为一个重要因素来考虑，均与对植入前基因检测的兴趣显著相关。将宗教/道德作为一个重要因素来考虑与对植入前基因检测和产前诊断的兴趣较低相关。
我们的研究人群显示出对遗传风险的基本知识，并且大多数人希望避免生育患病子女。与其他常染色体显性成人发病疾病的文献一致，个体表现出对植入前基因检测的偏好。医疗保健提供者应继续就生殖选择及其风险和局限性对患者进行教育。
