title: Genetic counselling, carrier detection, and prenatal diagnosis in hemophilia. A service experience.
abstract: Our experience over three years (1984-1986) is described in carrier detection and prenatal testing for hemophilia. We have analysed 50 families: 37 hemophilia A and 13 hemophilia B, 22 isolated cases and 28 familial. Eighty-three women belonging to this panel asked for a genetic risk. Pedigree and coagulation studies were performed to estimate genetic risks according to the Bayesian method. At this point, 40% of the females at risk were recognized carriers before the DNA analysis. Molecular biology allowed the detection of only 7% more carriers and the exclusion of 34%. In 19% of the cases, it was impossible to estimate the genetic risk because the families were uninformative for the DNA polymorphisms used. Twenty-two prenatal diagnoses were performed; 3 affected male fetuses were recognized by DNA analysis and pregnancies were terminated. Eleven healthy boys were born.
authors.affiliation: Clinique et Unité de Recherche de Génétique Médicale, INSERM U.12, Hôpital Necker, Paris.
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: M L
authors.initials: ML
authors.lastname: Chauvet
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
authors.forename: C
authors.initials: C
authors.lastname: Gazengel
mesh_terms: D001777:Blood Coagulation; D015342:DNA Probes; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006467:Hemophilia A / Q000175:diagnosis*; D006801:Humans; D011296:Prenatal Diagnosis; D012307:Risk Factors
chemical_list: D015342:DNA Probes