Читать книгу Assisted Reproduction Techniques - Группа авторов - Страница 54

If the female partner was found to be a carrier of a cystic fibrosis mutation after extended mutation screening, this couple will have a 50% risk of conceiving a child affected with cystic fibrosis, although the range of phenotypic expression could be wide and vary from very mild to severe clinical manifestations. In addition, 50% of this couple’s children will be carriers of a cystic fibrosis mutation. If the female partner is tested negative for cystic fibrosis mutation, the risk of conceiving a child affected with cystic fibrosis drops to approximately 1 in 1,000.