Fertility problems affect many couples. Genetic causes can explain some cases of infertility. Felicitas helps investigate the genetic background of infertility using new molecular genetic technologies.
Fertility problems and resulting infertility affect approximately 15 percent of couples. It is estimated that in 10–15 percent of cases in men and 8–10 percent in women suffering from infertility problems, the condition is explained by genetic causes.
Efforts to clarify the genetic background of infertility, i.e., fertility-related problems, have been made in the past as well, but the methods have been laborious. New molecular genetic technologies enable the fast and cost-effective sequencing of large amounts of DNA. With these technologies, sequencing large gene panels and even examining the entire genome is nevertheless possible.
In recent years, genes associated with infertility problems in different genders have been identified. Genetic causes can include chromosomal errors and alterations or single-gene alterations (mutations).
Some of the investigated genes have been found to be associated with female infertility. Genetic disorders may underlie, for example, primary ovarian insufficiency, ovarian dysfunction and developmental disorders, recurrent miscarriages, or oocyte maturation disorders.
The female gene panel includes an analysis of nearly 70 genes that have been found to be associated with female infertility.
Genetic causes underlying male infertility can be endocrinological, meaning related to hormone-producing organs. Endocrinological causes are characterized by low sex hormone levels and abnormal pituitary gland hormone levels.
Genetic causes can also cause disorders of ejaculation or structural disorders of the seminal ducts, making the passage of semen from the testis difficult. Congenital seminal duct blockages (or obstructions) can be unilateral or bilateral. The best-known structural disorder is the congenital bilateral absence of the vas deferens caused by the CFTR gene, which causes the absence of sperm in semen, i.e. azoospermia.
The male gene panel contains 50 genes that are known to affect sperm motility and structure or to cause azoospermia.
Genetic testing can be useful, for example, in investigating recurrent miscarriages and in fertility assessments, especially when a hereditary factor related to infertility has been identified in the family. If there is a history of several unsuccessful insemination treatments, genetic testing can be helpful in the further planning of treatments. The test is performed on DNA isolated from a blood sample.