Abstract for presentation at 11th International Congress of Human Genetics

The disclosure within a family about a known genetic condition is an important issue in clinical genetics. Non-disclosure of information about inherited family genetic conditions such as Huntington disease and hereditary cancers has been well documented. However, there has been limited research into disclosure about balanced translocations within families and the consequences for childbearing decisions. Individuals who are uninformed about a familial translocation, and hence the possibility that they could be carriers, are denied the opportunity to make informed childbearing decisions. Carrier siblings who are uninformed of the possibility of familial translocation may experience years of unexplained infertility and miscarriages, high costs of infertility treatment, or involuntary childlessness.
A male carrier may have reduced spermatogenesis, or a couple may be unable to achieve a pregnancy or produce recurrent miscarriages, and may require Assisted Reproductive Technology for a chance to conceive a pregnancy. Translocation carriers, who attended a large infertility service in metropolitan and regional Queensland, Australia between January 2003 and January 2006, were surveyed. The infertility clinic routinely karyotyped all infertility patients, and translocations were identified at a significantly higher rate in this cohort compared to the general population. Prior to attending the infertility clinic, these individuals were unaware they carried a translocation.
The quantitative study using a psychometric instrument surveyed; the carrier’s decisions regarding disclosure to siblings, factors contributing to decision uncertainty, socio-ecological influences upon that decision making, differences in decision making based on gender, and the carrier’s perception about their ability to make an informed decision about disclosure. Information gained from this survey increases our knowledge in the specialized area of infertility counselling.