Genetically caused fertility disorders

About 15% of couples of reproductive age have an unfulfilled desire for children, repeated miscarriages occur in about 3-5%. Causes can be genetic, gynecological, andrological, endocrinological, infectious and immunological. The goal of genetic testing is to obtain a cause and, if possible, a treatment option for the fertility disorder as well as information about possible risks of genetic disease in the children. 

Genetic causes of fertility disorders or early pregnancy loss are

• Structural or numerical chromosomal alterations
• AZF deletions
• CBAVD, cystic fibrosis
• Adrenogenital syndrome
• FMR1 premutation in premature ovarian failure
• Various monogenic fertility disorders
• Syndromic disorders