title: Genetic counseling for childless women at risk for Duchenne muscular dystrophy.
abstract: The aim of the present study was to assess the impact of genetic counseling in young women at risk to have Duchenne muscular dystrophy (DMD) children prior to childbearing. A total of 263 potential DMD carriers, who had had genetic counseling and were given different genetic risks, were included in this investigation. Their reproductive outcome and future plans as well as their requests for DNA tests (for carrier detection and prenatal diagnosis) were analyzed according to genetic risk magnitude, comprehension of genetic counseling is- sues, family and personal history, socio-educational level, and subjective opinion about selective abortion. We noted that genetic risk magnitude had no significant influence on reproductive plans or outcome nor on the request for additional DNA testing, even considering only those clients with good comprehension and retention of issues discussed during genetic counseling. On the other hand, counselees who had more than one affected or at least one deceased DMD case in their family understood genetic counseling significantly better, suggesting that "learning with life" has a stronger impact than genetic counseling.
authors.affiliation: Departamento de Biologia, Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil. saeggers@usp.br
authors.forename: S
authors.initials: S
authors.lastname: Eggers
authors.forename: R C
authors.initials: RC
authors.lastname: Pavanello
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000328:Adult; D001294:Attitude to Health; D004247:DNA / Q000235:genetics; D005193:Family Planning Services; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology* / Q000235:genetics*; D010298:Parity; D011296:Prenatal Diagnosis; D012307:Risk Factors
chemical_list: D004247:DNA