Carrier couple and pregancy_2

Question

We are a couple, both of us carriers of CF mutations (Leu732x & DF508). The results of the amniocentesis (at 17 weeks of gestation) showed that the embryo will have CF. How grave is the combination of these two mutations for the life expectancy of the embryo and the course of the disease?

Answer

Dear friend,
The mentioned combinations of the two mutations will lead to “the classical picture of CF” which is characterized by insufficiency of the pancreas and chronic lung disease. However, the course of the disease, especially the course of the lung disease, is dependent on several genetic, epigenetic and environmental factors, so that the individual course and severity is not very predictable based on the genetic mutations only. CF is a chronic life shortening disease, which at present cannot be “cured” from its roots. It means a lifelong time consuming therapy with inhalations, probably repeated antibiotic courses and for sure enormous efforts and burdens for the whole family. Due to a great improvement in the symptomatic therapy and follow-up of CF patients in specialized CF-centers, the life expectancy has improved markedly and is now somewhere in the mid-40ties and 50ties.

Hope this helps, all the best for you,

Yours sincerely,

Dr. Stavros Doudounakis, Dr. D. d'Alquen and Dr. K. de Boeck

29.02.2012