Worldwide, the prevalence of couples who remain involuntarily childless over a period of twelve months ranges from 3.5% to 16.7% with a median of 9%. According to the available literature, the reasons for involuntary childlessness in patients seeking assisted reproductive technology can be attributed to male infertility in 11%, to female infertility in 24% and to both partners in 40%. However, in 25% of cases, the reason for infertility remains unidentified. Genetic testing is of special importance concerning treatment options and preventative measures for the patient as well as for the offspring.
Genetic factors include chromosomal abnormalities, single gene mutations and monogenic or multi-factorial syndromes and diseases. The diagnostic measures taken in couples that are involuntarily childless are usually initiated by the gynecologist, the urologist or the human geneticist. Clinically, infertility is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. Evaluation of the genetic background by high resolution modern techniques available is thus a necessity.
The goal of counseling is focusing on an extensive evaluation of the familial history and, if necessary, clinical-genetic examinations, in order to decide whether and which further genetic testing is appropriate for the couple.