Sperm chromosome abnormalities in patients with normal karyotype and in translocation carriers: clinical relevance for art

Abstract Research Question: To evaluate the proportion of chromosomally abnormal spermatozoa in men with a history of reproductive failure, including patients with normal karyotype and carriers of translocations. Should this analysis be included in a clinical setting to define the best treatment options for infertile couples? Design: Aneuploidy for chromosomes XY, 13, 15, 16, 17, 18, 21, 22 was tested by Fluorescent In Situ Hybridization (FISH) in 1665 samples from couples with normal karyotype having had at least 3 previous IVF failures and/or miscarriages (Group-A). A FISH test was also performed on 76 samples from carriers of translocations (Group-B) to detect the proportion of spermatozoa with unbalanced rearrangement. Results: In Group-A, the lowest incidence of aneuploidy was found in normozoospermic (1.3%, range 0.09-6.31%) in comparison to moderate-oligoasthenoteratozoospermic (m-OAT; 2.1%, range 0.41-16.6%, P In Group-B, the proportion of spermatozoa with unbalanced rearrangement was significantly higher in reciprocal (63%, range 10-87.6%) than in Robertsonian translocations (16%, range 4.3-51%, P Conclusions: Patients with poor prognosis of term-pregnancy tend to generate high proportions of chromosomally abnormal spermatozoa especially in severe male factor cases. The corresponding frequencies occur at wide ranges making the FISH test needed to assess in each case the proportion of spermatozoa with altered chromosome condition. We designed a flowchart including the FISH test to assist clinicians when approaching couples with poor prognosis of pregnancy to decide the most indicated treatment options.