Screening

Question

Hello, I am 30 years old and 3 months pregnant. My doctor advised me to check for DF508 together with Papp-A. I understand that this is one of many mutations. There is no history of CF in my or my spouse’s side of the family. Do you believe that the screening should involve a complete check (the one that identifies 85% of the mutations), or is this something reserved for special cases?
Thank you.

Answer

Dear friend,
Your gynecologist did well to recommend screening for CF, even if only for one mutation, the most common of the mutations, the DF508. What you need to do is to get tested for the most common mutation for your ethnicity, in order to achieve a satisfying prediction percentage of 75-90%, in order to minimize the danger for the child to have CF, provided that both parents are tested.
This kind of screening for CF, provided both parents are tested, dramatically reduces the chance for CF, but it does not preclude it 100%. This reduction of the possibility depends on the percentage of the mutations checked for each particular ethnicity.
Regards,
Dr. Stavros Doudounakis

06.12.2010

6.12.2010 Concerning a screening of persons without a family history of CF, in Europe, the situation is heterogenous: population screening was implemented in a number of different regional or national programmes, especially as prenatal screening, while it is not recommended in other countries. Despite the absence of European consensus for recommendation of CF screening in couples seeking preconceptional counselling, appropriate information about the disease and its genetic aspects, as well as the possibility and the limits of testing, should be provided on request.
Daniela d'Alquen (coordinator of the English Archive)