Abstract for presentation at 11th International Congress of Human Genetics

Infertility is experienced in Australia by 1 in 6 couples of childbearing age .The concept of infertility is one which is no longer acceptable to couples who are now presenting to fertility clinics with high expectations for a successful pregnancy. Since January 2003 we have recommended to IVF providers in Queensland, the protocol of routine karyotyping for both partners at initial presentation. We present data collected from January 2003 through till January 2006 showing the discovery of 61 karyotype abnormalities. The sample population had no prior knowledge of familial karyotype abnormalities and had not had any previous prenatal or post natal chromosome testing to justify karyotyping. Balanced translocations were found in the highest frequency - 36/61, followed by Robertsonian translocations - 18/61. The single commonest abnormality was 13,14 Robertsonian tranlocations - 11/61. Other abnormalities included findings of Klinefelter syndrome, Mosaic Turner syndrome, Marker chromosomes and Paracentric inversions. Based on these findings we would recommend all couples presenting to an IVF clinic should have karyotyping at presentation. Failure to do so may otherwise result in couples experiencing over many years, costly and exhausting IVF procedures where the chance for success may be significantly diminished. Options such as Preimplantation Genetic Diagnosis may provide a good option particularly for couples carrying a translocation.