Читать книгу Assisted Reproduction Techniques - Группа авторов - Страница 61

Challenge: Cystic fibrosis in a couple of reproductive age and its relation to their fertility.

Background:

 Cystic fibrosis is the most common life‐threatening autosomal recessive condition in Caucasians, with an estimated carrier rate of 1 in 25.

 Approximately, 98% of men affected with cystic fibrosis are azoospermic, due to congenital bilateral absence of the vas deferens (CBAVD).

 The most common mutation is the delta‐F508 mutation, present in 75% of cases.

 Reproductive risks will depend on accurate genetic diagnosis in both partners.

Management:

 The expertise of fertility specialists and a genetics center with advanced molecular diagnostic facilities are required for optimum management.

 Diagnosis should involve extended genetic testing of both partners to appreciate the extent of genetic risks to the future child.

 Treatment options include surgical sperm retrieval followed by ICSI with or without PGT, prenatal screening and termination of an affected pregnancy or using donor sperm obtained from a cystic fibrosis–negative donor.

 Success rate of PGT is acceptable and the treatment is considered cost‐effective.

 Appropriate genetic and fertility counseling is paramount throughout the whole process.