IVF ResearchNetwork

Abstract

BACKGROUND:

In couples affected by a monogenic disease, Double-Factor Preimplantation Genetic Diagnosis (DF-PGD) allows double selection of embryos, i.e., free of the monogenic disease and being potentially euploid. The intention of this manuscript is to evaluate the feasibility and possible positive effect on implantation of DF-PGD after two years of clincal application.

METHODS:

Eight couples participated in this study; three suffered AMA (>35 y mean 39.2 y), but not the other five (<35 y mean 32.3 y). After ICSI, the first polar bodies were biopsied and analyzed using CGH to screen aneuploides in the whole-chromosome complement. On Day 3, a blastomere was biopsied and amplified using MDA, followed by couple-specific mutation detection protocol. On Day 4, both monogenetic detection and 1PB-CGH results were obtained allowing for a double selection of embryos.

RESULTS:

During DF-PGD, only 1PB-CGHs from developing embryos were analysed, 45,45% of them being aneuploid (35/77), only fifiteen obtained from AMA patients. Forty-five blastomers were unaffected by the respective disease. In 35 of them, the 1PBs-CGH was available, with the result that 15 (42.9%) were potentially euploid, thus classified as DF-PGD-transferable embryos. The remaining 10 unaffected embryos without informative 1PB-CGH were tagged as PGF-transferable.

Nine of the DF-PGD-transferable embryos and eight of PGD-transferable embryos were selected for transfer, achieving pregnancy in three (33,3%) and in one (12,5%) of the transferred embryos, respectively.

CONCLUSIONS

Despite the low number of cycles performed using DF-PGD, it seems to be a good tool to increase the implantation rate in couples affected by a monogenic disease.