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Healthy carrier and desire for children
- Question
- Hello I am writing because my husband is a healthy carrier (for cystic fibrosis). If one day we want a child how do I make the test for me?
- Answer
- Hello,
If you yourself have no related cystic fibrosis in your family, your risk of being a healthy carrier is that of the general population: 1 / 30. The risk in your couple to have a child with cystic fibrosis can be estimated to be 1 / 30 x 1 / 4 or 1 / 120 before having conducted an analysis of your genes.
This risk is worth going for a genetic counselling in order to explain the ins and outs of a genetic study, as well as the possibilities of prenatal diagnosis if you found a mutation called "pathogenic", that is to say that causes disease when it is combined with another mutation "pathogenic."
To find the genetic counseling that is closest to you, you can either ask the center of resources and expertise of cystic fibrosis in your area (see list on this link: www.vaincrelamuco.org/ewb_pages / c / centers reference.php) or go to the site Orphanet: www.orpha.net/consor/www/cgi-bin/Clinics.php?lng=EN stating "Cystic fibrosis "in the" Name of the disease "and clicking on" genetic counseling "for the type of consultation.
Pending the appointment you can read this brochure from the Canadian Foundation, it supplements the information above and can anticipate the consultation. www.cysticfibrosis.ca/assets/files/pdf/Carrier_Testing_for_cystic_fibrosisE.pdf
Happy reading and best regards
Dr Sophie Ravilly - 14.11.2011
