Pre-pregnancy screening

If you or your spouse are known to be carriers of the gene abnormality responsible for Krabbe disease — or have extended family members who have developed the disorder — talk with your doctor about undergoing genetic counseling if you're considering pregnancy, in order to better understand the possible risks.

Newborn screening

Because stem cell transplants may delay the onset of Krabbe disease when given before symptoms begin, screening newborns may become more important. New York state has already adopted universal newborn screening for Krabbe disease. Even when transplant isn't feasible, screenings allow for early detection, which can help improve an infant's quality of life by intervening with supportive care earlier. If you don't live in a state where screening is commonplace and you have a family history of Krabbe disease, talk with your doctor about having your newborn screened.

Jun. 11, 2011