Robertsonian translocation and their role in pathogenesis of recurrent in vitro fertilization failure

摘要

Background Chromosomal anomalies have been postulated to be one of the principal genetic factors in reproductive failure. The principal structural anomalies are Robertsonian translocations which occur at a total frequency of rate 1.23 per thousand in newborns. Since most infertile men with Robertsonian translocation are oligospermic, they are good candidates for assisted reproduction like in vitro fertilization and intracytoplasmic sperm injection. However, a large number of such men/couples experience recurrent assisted procreation failure. Material and Method The aim of the study was to diagnose the genetic basis of recurrent assisted reproductive failure (in vitro fertilization /intracytoplasmic sperm injection) in infertile men. One hundred twenty infertile men with idiopathic infertility who experienced recurrent assisted procreation techniques failure were recruited into this study after giving informed consent and after ethical clearance had been obtained. Semen and cytogenetic analyses were done to assess the semen status and cytogenetic profile of these men. Results Robertsonian translocations were found in 6 of 120 participants (5%). The men with Robertsonian translocation had recurrent assisted procreation techniques failure (>4 failed attempts; 3 in vitro fertilization and at least 1 unsuccessful intracytoplasmic sperm injection). In comparison, the men with a Yq microdeletion and other chromosomal abnormalities conceived after 1 to 2 in vitro fertilization cycles. These chromosomal anomalies may be the basis of failure of these assisted-reproductive procreation techniques. Conclusions These results highlight the need for genetic investigations in all infertile men experiencing recurrent assisted procreation techniques failure.