Читать книгу Assisted Reproduction Techniques - Группа авторов - Страница 62

1 Q1 What causes cystic fibrosis?A1. Cystic fibrosis is caused by sequence variation in the CFTR (cystic fibrosis transmembrane regulator) gene, located on chromosome 7.

2 Q2 How common is cystic fibrosis?A2. Cystic fibrosis is one of the most common genetic conditions in European population, and 1 in every 2,500 babies born in the UK has cystic fibrosis. The carrier rate in Western Europe is about 1 in 25.

3 Q3 What are the medical effects of cystic fibrosis?A3. Cystic fibrosis results in the production of an abnormally thickened mucous secretions in various body organs, including lungs, pancreas, bowel and biliary ducts. This causes obstruction and chronic inflammation and progressive organ failure.

4 Q4 How can cystic fibrosis cause infertility?A4. Cystic fibrosis in the male is associated with bilateral absence of the vas deferens which is the tube that conveys the sperm from the testicles to the urethra. In the female, cystic fibrosis causes infertility via cervical canal or fallopian tubal obstruction due to the production of viscid and tenacious cervical and tubal secretions.

5 Q5 What is the first step in initiating PGT treatment?A5. Cystic fibrosis is one of the most common indications for PGT, and almost 10% of all PGT cycles performed worldwide are to avoid a pregnancy affected with cystic fibrosis. It is important that couples considering PGT receive adequate genetic counseling before starting the treatment process to understand the testing and the available reproductive options.