Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options
ABSTRACT 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 a...
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Published in | Movement disorders clinical practice (Hoboken, N.J.) Vol. 7; no. 1; pp. 37 - 44 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Hoboken, USA
John Wiley & Sons, Inc
01.01.2020
Wiley Subscription Services, Inc |
Subjects | |
Online Access | Get full text |
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Summary: | ABSTRACT
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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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Relevant disclosures and conflicts of interest are listed at the end of this article. |
ISSN: | 2330-1619 2330-1619 |
DOI: | 10.1002/mdc3.12859 |