Experience from over 100 cases of preimplantation genetic analyses

Hypothesis: Preimplantation testing for single gene defects (PGD) and/or aneuploidy (PGS) provides good clinical benefit for couples with distinct genetic burden to fulfill their desire for a healthy child.

Material and methods: Biopsies of 2 – 6 trophectoderm cells from day5-blastocysts were obtained by laser dissection. While embryos were vitrified, dissections were subjected to whole genome amplification (WGA) with multiple displacement (MDA) for PGD (REPLI-g Single Cell Kit, Qiagen, Hilden, Germany) or random priming for PGS (SurePlex Amplification System, BlueGnome Ltd., Cambridge, UK). PGD was performed by family specific mutation detection assays, PGS by aneuploidy testing (24sure protocol, BlueGnome). Embryos were thawed, recultured for 2 hours and transferred five days post ovulation in a natural cycle.

Results: We report on the outcome of assisted reproductive treatment (ART) including PGD/PGS for a comprehensively documented cohort of more than 100 cases from our diagnostic routine (to be updated upon presentation). Clinical results prove an advantageous effect on pregnancy and birth rates for couples with unsuccessful histories of reproduction including recurrent abortion due to aneuploidy, translocation carriers, as well as final relief for those carrying a gene defect associated with a severe disease.

Conclusions: We consider our data of distinct value for the German ART community, because it constitutes a well recorded basis for discussion on medical and ethical aspects arising from this novel approach. Nationwide, this is the biggest reported cohort of its kind so far and might for the first time facilitate a valid comparison to international studies.