Abstract
This European study involving seven genetic centres from six countries – Aberdeen, Cardiff (UK), Leiden (Netherlands), Leuven (Belgium), Paris (France), Rome (Italy), Athens (Greece) has gathered information on prenatal testing by direct mutation analysis and exclusion testing for Huntington's disease (HD) from the six European countries during the period 1993–1998. Data describing the parent belonging to the HD family was collected; this included their sex and age as well as their risk of developing HD. Information about previous pregnancies, the rank of the pregnancy being tested and its outcome was also gathered. In addition the number of previous prenatal tests for HD was recorded. Three hundred and five results were recorded by the participating countries between 1993 and 1998. The largest groups came from the UK (157) and the Netherlands (90). The mean age for the parent from the HD family was 30.8 years. In half of the tests the prospective parent was an asymptomatic gene carrier, 42% remained at risk, and 6% of the prospective parents were already showing clinical features of HD. 65% of tests performed used mutation analysis.
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Acknowledgements
Very special gratitude is expressed to the many persons in the participating countries and to their colleagues from other genetic centres in their country, without whom the present study would have been impossible. The authors of this paper acknowledge the contribution of authors in the following countries In Belgium: Dr M Decruyenaere, Mrs T Cloostermans, Mrs A Boogaerts, Prof J-P Fryns (Center for Human Genetics, Leuven); Prof J Dumon (Dienst voor erfelijkheidsonderzoek en advies, Antwerpen); Prof Y Gillerot (Departement de Genetique Medicale, Loverval); Prof A De Paepe, Mrs Isabelle Delvaux (Dienst Medische Genetica, Gent); Prof I Liebaers (Dienst Medische Genetica, Brussels); Prof M Abramovicz (Centre de Genetique, Bruxelles); Prof A Verloes (Service de Genetique Humaine, Liege); Prof C Verellen (Centre de Genetique Medicale, Bruxelles). In France: Prof Josue Feingold, Marcela Garguilo, Tecla Capecchi, Dr Khadija Lahlou (Hopital de la Salpetriere). In Greece: Prof C Papageorgiou, Prof M Dalakas, Prof D Vassilopoulos, Dr C Voumvourakis, Dr M Panas, Mrs S Pomoni (Department of Neurology, University of Athens); Prof D Loukopoulos, Mrs K Palioniko (1st Department of Internal Medicine, University of Athens); Prof C Metaxotou, Dr S Youroukos (1st Department of Pediatrics, University of Athens); Assoc Prof A Antsaklis (1st Department of Gynecology and Obstetrics, University of Athens); Prof A Plaitakis, Dr M Tzagournissakis (Department of Neurology, University of Crete, Herakleion). In Italy: Dr M Frontali (Istituto di Medicina Sperimentale C.N.R., Rome); Prof B Brambati (Istituto Ostetrico Ginecologico “L.Mangiagalli”, Milan); Prof P Mandich (Dipartimento di Biologia, Oncologia e Genetica, Genoa); Prof A Renieri (Istituto di Genetica Medica, Università di Siena); Dr M Genuardi (Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Rome); Prof G Novelli (Cattedra di Genetica Medica, Università Tor Vergata, Rome); Dr M Ferrari (Sezione Biologia Molecolare Clinica, Ospedale San Raffaele, Milan); Prof E Calzolari (Cattedra Genetica Umana, Università di Ferrara). In The Netherlands: JA Maat-Kievit, Prof Dr MH Breuning (Center of Human and Clinical Genetics Leiden); Dr M Losekoot, Prof Dr B Bakker (DNA-diagnostic laboratory, Center of Human and Clinical Genetics Leiden); MN Ane, Section of Neuropsychology, Dept of Neurology, Leiden; Dutch working group on Huntington's Disease, a collaboration between Afdeling Erfelijkhieidsadvisering Academisch Medisch Centrum Amsterdam (Prof Dr NJ Leschot); Afdeling Klinische Genetica Vrije Universiteit Amsterdam (Prof Dr LP ten Cate); Afdeling Erfelijkheidsvoorlichting Rijksuniversiteit Groningen (Dr JAvan Essen); Afdeling Erfelijkheidsvoorlichting Stichting Klinische Genetica ZO Nederland Maastricht (Dr C Schrander-Stumpel); Afdeling Klinische Genetica Radbout Ziekenhuis Nijmegen (Prof Dr H Brunner); Afdeling Klinische Genetica Erasmus Universiteit Rotterdam (Prof Dr H Galjaard); Divisie Medische Genetica Universitair Medisch Centrum Utrecht (Prof Dr D Lindhout); Centrum voor Humane en Klinische Genetica Leids Universitair Medisch Centrum Leiden (Prof Dr MH Breuning). In the UK: Mrs R Glew, Dr R Harper (Institute of Medical Genetics, Cardiff); The members of the UK Huntington's Disease Prediction Consortium.
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Simpson, S., Zoeteweij, M., Nys, K. et al. Prenatal testing for Huntington's disease: a European collaborative study. Eur J Hum Genet 10, 689–693 (2002). https://doi.org/10.1038/sj.ejhg.5200871
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DOI: https://doi.org/10.1038/sj.ejhg.5200871
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