My first child has epidermolysis bullosa (EB). What are the chances of future children being affected?
Epidermolysis bullosa is a group of inherited blistering disorders. There are more than a dozen subtypes, some of which occur as autosomal-dominant and some as autosomal-recessive inheritance types. In the former, one parent is affected and passes the gene to the child. There is a 50% chance of this occurring with each pregnancy. When a disease occurs in an autosomal-recessive pattern, the child receives one affected gene from each parent. The combination of the two genes causes the disease. In such cases, it is possible that neither parent may be affected. Each subsequent pregnancy carries a 25% chance of the child having EB. Diagnosis can be made early in the pregnancy by sampling a piece of the tissue surrounding the fetus (chorionic villus sampling).
