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Original research
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
  1. Lucie Pierron1,
  2. Sophie Tezenas du Montcel2,3,
  3. Anna Heinzmann1,3,
  4. Giulia Coarelli1,3,
  5. Delphine Héron1,
  6. Solveig Heide1,
  7. Ariane Herson1,
  8. Juliette Hennessy3,
  9. Elodie Petit1,3,
  10. Marcela Gargiulo1,4,
  11. Alexandra Durr1,3
  1. 1 Genetics Department, University Hospital Pitié Salpêtrière, Paris, France
  2. 2 Institut Pierre Louis de Santé Publique, Medical Information Unit, Sorbonne Université, Paris, France
  3. 3 Sorbonne Université and Paris Brain Institute, Inserm, CNRS, AP-HP, Pitié- Salpêtrière Hospital, Paris, France
  4. 4 Laboratoire de Psychologie Clinique, Psychopathologie, Psychanalyse, Université Sorbonne Paris Cité, Boulogne-Billancourt, France
  1. Correspondence to Professor Alexandra Durr, Genetics Department, University Hospital Pitié Salpêtrière, Paris, Île-de-France, France; alexandra.durr{at}


Background Low uptake of presymptomatic testing and medically assisted reproduction in families impacted by neurogenetic diseases prompted us to investigate how reproductive options are considered and whether there is a relationship with perceived severity of the disease. We hypothesised that self-estimated severity would influence opinion on reproductive options and that prenatal/preimplantation diagnosis would be a motivation to inform relatives about their risk.

Methods We invited people impacted by neurogenetic diseases to evaluate the severity of their familial disease using analogic visual scales and to answer questionnaires about reproductive choices and intrafamilial communication. We compared answers between diseases and with the perceived severity of each disease.

Results We analysed 562 questionnaires. Participants were impacted by Huntington disease (n=307), spinocerebellar ataxias (n=114), Steinert myotonic dystrophy (n=82) and amyotrophic lateral sclerosis/frontotemporal dementia (n=59). Self-estimated severity differed between pathologies (p<0.0001). Overall, participants considered prenatal diagnosis (78.0±34.4 out of 100) and preimplantation diagnosis (75.2±36.1 out of 100) justified more than termination of pregnancy (68.6±38.5 out of 100). They were less in favour of gamete donation (48.3±39.8 out of 100) or pregnancy abstention (43.3±40.3 out of 100). The greater the perceived severity of the disease, the more reproductive options were considered justified, except for gamete donation. Prenatal/preimplantation diagnosis was a motivation to inform relatives for only 55.3% of participants (p=0.01).

Conclusion Self-estimated severity minimally impacts opinions towards reproductive options. Medically assisted reproduction procedures are rarely sought and do not motivate familial communication.

  • genetic counseling
  • reproductive medicine
  • neurodegenerative diseases
  • ethics

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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  • MG and AD contributed equally.

  • Contributors LP: analysis and interpretation of data and drafting/revising the manuscript. STdM: study concept and design, analysis and interpretation of data, and revising the manuscript. GC, AH, JH, EP, DH, SH: acquisition of data and revising the manuscript. MG, AD: study concept and design, acquisition, analysis and interpretation of data, obtaining funding, study supervision and coordination, and drafting/revising the manuscript. Guarantor: AD.

  • Funding The study was funded by the French Agency of Biomedicine (Grant no: AOR 2017-36).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.