Genetic testing experience of a private fertility clinic

摘要

The objective of the study was to assess the frequency of Y-chromosome microdeletions and cytogenetic rearrangements in couples presenting with a male factor-infertility and to evaluate under which indications these genetic analysis should be recommended Y-chromosome micro-deletions were detected in 4 6% of patients with altered speimatogenesis The incidence of deletion Yq was 13 3% in males with non-obstructive severe oligospermia and azoospermia The incidences of chromosome anomalies and of chromosome variants were 2fl% and 0 6% respectively Our study confirms that a subgroup of men with azoospermia and severe oligospermia are at high risk for Y-chromosorrie microdeletions It is therefore recommended to screen them for miciodeletions of the Y-chromosome before applying ICSI treatment for infertility. Cytogenetic evaluation is also justifiable as part of the investigation for these patients.