Multi-diversity of molecular PGD requests: a 7 year experience on 500 blastomeres

Background: PGD has shown to be an effective approach for healthy fetuses for families who either do not want to go through routine prenatal diagnosis, are not allowed to abort the affected fetuses or want to select embryos with special characters.Methods: A multicolor multiplexing STR based haplotyping method as well as Sanger sequencing were used to detect the fate of each embryo. In some cases, more than 30 fragments were amplified using array of primers which had been designed for PGD purpose or have been modified to be used so.Result: During these years, more than 527 blastomeres for 106 cases were analyzed. In some cases, more than one round of PGD were performed. The PGDs were done for various purposes including beta-thalassemia, HLA typing, aneuploidy detection, sex selection, phenylketonuria, Fanconi anemia, etc. In most cases, more than one type of selection were applied and in some, three at a time like DMD, sex selection and QFPCR.Conclusion: From these cases, more than 25% have ended up in pregnancies and several births of desired babies have resulted. Our result showed that with practice, strong bioinformatics infrastructure and multiplexing know how, one can perform and deliver accurate and reliable PDG results. Our expertise in molecular PGD can pave the way for others to deliver similar results. Strong IVF and gynecologists partners are essential for delivering viable embryos and fetuses.

Keywords:

Blastomere , Embryo selection , HLA , IVF , Molecular , QFPCR , Thalassemia , PGD