PREIMPLANTATION GENETIC DIAGNOSIS-4 YEARS' EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA

Background Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008. Methods The retrospective analysis includes sixty cycles performed in 34 couples enrolled in the PGD programe. Embryos were biopsied on the third day and the genetic analysis was performed using the FISH and PCR methods. Embryo transfers were carried out on the fifth day. Results The main indications were chromosomal abnormalities (67 %), followed by recurrent miscarriages (16 %), autosomal dominant and recessive diseases (9 %), and X-linked diseases (6 916). Sixty cycles were performed and 48 embryo transfer procedures. There were 1.5 clinical pregnancies resulting in clinical pregnancy rate 25 % per cycle and 3 75 % per embryo transfer. A total of eight unaffected children were born, and two pregnancies are still ongoing. Conclusions PGD is technically a very challenging procedure. Superior knowledge and communication between geneticists and reproductive medicine scientists is mandatory for successful PGD procedures. PGD has gained a place among the choices offered at Gynecology Clinic Ljubljana to couples at risk of transmission of genetic disease.