Preimplantation genetic testing (PGT) of IVF embryos is an increasingly available option for couples who want to avoid passing on a genetic condition to their children. A/Prof Jones will go over the process of PGT, some examples of PGT for NF, and the practicalities of referring a couple for PGT.

Adults with NF1, NF2, Schwannomatosis (referred to as NF) including, suspected or mosaic NF, face considerable challenges when making decisions around family planning. The Australian government has recently released funding to support pre-implantation genetic testing (PGT). However, there are no specific tools to assist families with NF in this process or to raise awareness of available options. 

We aim to identify barriers and enablers for individuals with NF to access assisted reproductive technologies. The qualitative data and thematic analysis from three in-depth interviews and two online focus groups was used to develop an online survey for individuals with NF. The results of the survey will be used to develop and provide supporting information and resources to facilitate reproductive decision making in the NF population.

Discussion on session 3