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  • Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia

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Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia
  1. G Lesca1,
  2. C Goizet2,
  3. A Dürr3,
  4. The French Group For Presymptomatic Testing In Neurogenetic Disorders
  1. 1Service de Génétique, Hôtel-Dieu, Lyon, France
  2. 2Service de Génétique, Maternité Pellegrin, Bordeaux, France
  3. 3Departement de Génétique, Cytogénétique et Embryologie, and INSERM U 289 and Fédération de Neurologie, Hôpital Pitié-Salpêtriére, Paris, France
  1. Correspondence to:
 Dr A Dürr, Département de Génétique, Cytogénétique et Embryologie, Groupe Hospitalier Pitié-Salpêtriére, 47-83 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France;
 durr{at}ccr.jussieu.fr

https://doi.org/10.1136/jmg.39.7.522

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    Presymptomatic (PT) and prenatal testing (PNT) for Huntington's disease (HD) have been available since 1986. Testing was initially based on genetic markers linked to the disease locus on chromosome 4p.1 Since 1993 and the identification of the huntingtin gene, direct analysis provides accurate PT and PNT.2 Recent advances in the field of molecular genetics has provided suitable tools for direct testing in an increasing number of hereditary neurodegenerative disorders, such as autosomal dominant cerebellar ataxias (SCA for spinocerebellar ataxias).3–7

    Huntington's disease and SCA are both associated with severe neurological handicap and a progressive course of the disease. The onset is usually in adulthood and many people at risk have already completed their families when requesting PT. However, for others, future family planning is a frequent motive for requesting PT, either because subjects at risk do not want to give birth to a child with a 50% risk of being affected, or because they would rather not have children if they were a carrier.8–13 Several authors have studied the incidence of pregnancy and PNT after PT and showed that the frequency of PNT was quite low among adult onset diseases.14–18 In contrast, pregnancies in couples at risk who were requesting PT has not been studied. For the parents, the situation is stressful because of the lack of sufficient preparation for an unfavourable result and the time constraints in PNT. We report our experience, focusing on the important issue of PT in the context of pregnancy.

    PATIENTS AND METHODS

    Ten centres of the French Group for Presymptomatic Testing in Neurogenetic Diseases received 868 at risk candidates from 1993 for HD and between 1993 to 1997 for SCA. The people at risk were seen in Paris (n=523), Lyon (n=89), Toulouse (n=67), Bordeaux (n=37), Rennes (n=36), Angers (n=35), Marseille …

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    Footnotes

    • French Group for Presymptomatic Testing

    • Angers: M C Malinge, D Le Gall, L Larget-Piet, C Verny, Service de Neurologie, CHU d'Angers, Angers, France.

    • Bordeaux: C Goizet, D Lacombe, F Tison, P Henry, C Martin, A J D Lafoucriere, Consultation multidisciplinaire de neurogénétique, Hôpital Pellegrin, Bordeaux, France.

    • Lyon: G Lesca, E Ollagnon, H Plauchu, F Chotteau, T d'Amato, E Broussolle, Service de Génétique, HHôtel-Dieu, Lyon, France. A Vandenberghe, Unité de Neurogénétique, Hôpital de l'Antiquaille, Lyon, France.

    • Marseille: N Philip, J P Azulay, J M Henry, Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

    • Montpellier: P Sarda, P Blanchet, M Pagés, W Camu, P Labauge, M Abbar, I Descours, V Jurquet, Génétique Pédiatrie II, Hôpital Arnaud de Villeneuve, Montpellier, France.

    • Paris: J Feingold, A Brice, M Garguilo, T Capecchi, I Lagroua, K Lahlou, A Durr, Departement de Génétique, Cytogénétique et Embryologie, Hôpital de la Salpêtriére. C Dodé, Laboratoire de Biologie Moléculaire, Hôpital Cochin, Paris, France.

    • Grenoble: O Cohen, Equipe de Génétique RECI-CONSEIL, Faculté de Médecine, Grenoble, France.

    • Nancy: P Jonveaux, Laboratoire de Génétique, CRTS Nancy Brabois, Nancy, France.

    • Toulouse: P Calvas, J F Desmomet, C Pigouis-Gayo, Laboratoire de Génétique Médicale, Hôpital Purpan, Toulouse, France.

    • Rennes: J Yaouanq, G Edan, M Leroux, V Pelletier-Chevillard, F Edier, Service de Pédiatrie-Génétique Médicale, CHU de Rennes, Rennes, France.