title: Neurofibromatosis 1: analysis of the demand for prenatal diagnosis in a French cohort of 361 patients.
abstract: The severity of neurofibromatosis 1 and its variable expressivity make prenatal diagnosis appealing. We conducted our research to assess patient characteristics associated with the desire for prenatal diagnosis. Between 1995 and 2004, 361 neurofibromatosis 1 adult patients were interviewed about their desire for prenatal diagnosis. Answers were classified in three groups: (1) 'no;' (2) 'uncertain;' (3) 'yes.' Socio-demographical and clinical data were analyzed by logistic multinomial regression for their association with the desire for prenatal diagnosis. Male-to-female sex ratio was 0.93. Mean age at study +/- SD was 33.5 +/- 10. Seven four patients (20.5%) would consider prenatal diagnosis; 240 (66.5%) did not; and 47 (13.0%) were uncertain. In multivariate analysis, compared to the 'no' group, a longer follow-up (OR = 1.25 [1.11-1.41]), a younger age at study time (OR = 1.25 [1.11-1.41]), not having child (OR = 2.46 [1.03-5.97]) and a higher educational level (OR = 5.07 [1.05-24.47]) were independently associated with the 'yes' group. Compared to the 'no' group individuals who were in the 'uncertain' groups were younger (0.95 [0.90-0.99]), less often married (0.11 [0.01-0.89]) and had a longer follow-up (1.26 [1.09-1.46]). There is a significant demand for prenatal diagnosis among neurofibromatosis 1 French patients. This demand is associated with individuals who are younger, have no child, have a longer follow up, and higher level of education.
authors: Department of Dermatology, AP-HP Henri Mondor, Université Paris 12, Créteil, France.
authors: David
authors: D
authors: Farhi
authors: Sylvie
authors: S
authors: Bastuji-Garin
authors: Kiarash
authors: K
authors: Khosrotehrani
authors: Dominique
authors: D
authors: Vidaud
authors: Christine
authors: C
authors: Bellane
authors: Jean
authors: J
authors: Revuz
authors: Pierre
authors: P
authors: Wolkenstein
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D005602:France / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis