Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options

Abstract

Background 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 Objectives: This study aimed to assess knowledge of genetic risk and perceptions of reproductive options in individuals with a diagnosis of spinocerebellar ataxia. Methods 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. ResultsResults: 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 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.

Role of telomere shortening in anticipation of inflammatory bowel disease

“…In polygenic diseases, the complexity of multifactorial inheritance makes the identification of such molecular mechanism very challenging. In IBD, genomic imprinting of age at diagnosis has been proposed but when tested in 137 affected parent-child pairs from 96 families, it was not observed[ 40 ].…”

“…The patterns of genetic anticipation discovered for some telomeropathies generated the question of whether a similar defect in telomere maintenance mechanisms may have a role in IBD. The TL has been studied in IBD in association with colon cancer and severity of inflammation in UC but not in the context of genetic anticipation[ 26 - 28 , 40 ]. In particular, we have questioned if these familial forms of IBD with observed anticipation might be due to unrecognized telomerophaties.…”