ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998

The first clinical application of preimplantation genetic diagnosis (PGD) w as reported almost a decade ago. Since then, the range of genetic defects t hat can be detected at single cell level has increased dramatically. At the 13th Annual Meeting of ESHRE in Edinburgh in 1997, a PGD Consortium was fo rmed to undertake the first systematic and long-term study of the efficacy and clinical outcome of PGD. We report here the first data collection cover ing the period of January 1997 to September 1998. Referral data on 323 coup les have been collected for a variety of monogenic and chromosomal disorder s, providing information about which patients, at risk for which genetic di seases, are interested in PGD. Data were collected on 392 PGD cycles, resul ting in 302 embryo transfers and 66 clinical pregnancies. Because of the im portance of follow-up of the children born after PGD, participating centres were asked to contribute data on the pregnancies achieved and the children born after PGD since the start of their PGD programme. Data on 82 pregnanc ies and 110 fetal sacs were collected, and information was available on 79 children. Finally, biopsy, fluorescence in-situ hybridization and polymeras e chain reaction protocols were collected, clearly showing that no consensu s exists on technical aspects such as which culture medium to use, and emph asizing the role the PGD Consortium could play in setting up guidelines for good laboratory practice, In conclusion, it is clear that the effort of ga thering data on PGD cycles is worthwhile and will be continued in the futur e, preferably using electronic data collection.