The history of a genetic disease: Duchen
β Opitz, John M.
π Article
π
1998
π John Wiley and Sons
π English
β 4 KB
π 1 views
β¦ LIBER β¦
Genetic counseling for childless women at risk for Duchenne muscular dystrophy
β Scribed by Eggers, Sabine; Pavanello, Rita C.M.; Passos-Bueno, Maria Rita; Zatz, Mayana
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 42 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991029)86:5<447::aid-ajmg10>3.0.co;2-p
No coin nor oath required. For personal study only.
β¦ Synopsis
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 issues, family and personal history, socioeducational 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.
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