title: What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
abstract: OBJECTIVE
  Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices.
  
  
  METHODS
  Two different questionnaires were produced.
  
  
  RESULTS
  Fifty geneticists filled in the questionnaire. Twenty-two per cent thought that PND was acceptable, 72% debatable and 6% not acceptable. Preimplantation genetic diagnosis was more often reported acceptable (34% of answers). Results varied according to the physician's experience with the disease. Fifty-four answers were collected for patients' questionnaires. Most of them (74%) were favourable to the development of prenatal testing, and believed that the choice should be given to parents. However, only a minority would opt for prenatal diagnosis for themselves.
  
  
  CONCLUSIONS
  This study showed that the majority of patients were in favour of PND and that opinions among practitioners varied widely, but that overall, practitioners favoured a systematic multidisciplinary evaluation of the couple's request.
authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France.
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authors.lastname: Coron
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authors.lastname: Rousseau
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authors.lastname: Jondeau
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authors.lastname: Gautier
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authors.lastname: Binquet
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authors.lastname: Gouya
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authors.lastname: Cusin
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authors.lastname: Odent
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authors.lastname: Dulac
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authors.lastname: Plauchu
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authors.lastname: Collignon
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authors.lastname: Delrue
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authors.lastname: Joly
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authors.lastname: Thauvin-Robinet
authors.forename: J E
authors.initials: JE
authors.lastname: Wolf
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authors.lastname: Hanna
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mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005602:France; D005826:Genetics, Medical / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000523:psychology; D008875:Middle Aged; D010290:Parents / Q000523:psychology*; D019836:Preimplantation Diagnosis / Q000523:psychology*; D011296:Prenatal Diagnosis / Q000523:psychology*; D011795:Surveys and Questionnaires; D055815:Young Adult