期刊
MOVEMENT DISORDERS CLINICAL PRACTICE
卷 7, 期 1, 页码 37-44出版社
WILEY
DOI: 10.1002/mdc3.12859
关键词
ataxia; preimplantation genetic diagnosis; prenatal diagnosis; reproductive decisions; assisted reproductive technology
资金
- NICHD [HHSN275201500001I]
- National Ataxia Foundation
- Friedreich Ataxia Research Alliance
- NIH [1U01NS104326-01]
Background 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. Objectives This study aimed to assess knowledge of genetic risk and perceptions of reproductive options in individuals with a diagnosis of spinocerebellar ataxia. Methods 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. Results 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. Conclusions 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.
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