Assessment of Clinical Application of Preimplantation Genetic Screening on Cryopreserved Human Blastocysts

Background: Recent advancement in both human embryology and preimplantation genetic screening has created a completely new situation for human assisted reproduction. Embryos, typically at blastocyst stage, are biopsied and screened by DNA microarray or next-generation sequencing before cryopreservation, and then euploid embryos are warmed for transfer. Increased embryo implantation rates have been reported after transfer of euploid embryos screened for all chromosomes. However, some patients may have frozen their embryos without doing embryo biopsy and screening, thus embryo biopsy and screening may be required after cryopreservation and warming. Such procedures have not been performed routinely in clinics and the efficiency is still unknown. Therefore, in this study, we investigated embryo implantation after blastocysts were cryopreserved/warmed, and then biopsied and screened by DNA microarray for all chromosomes.

Results: Two hundred and thirty four cryopreserved blastocysts from 35 women were warmed, and 224 (95.7 %) survived and were biopsied for aneuploidy screening. After analysis, 221 samples (98.7 %) had diagnostic results and 3 (1.3 %) samples did not have results due to DNA quality and quantity. Out of the samples with diagnostic results, 59.3 % were normal euploid and 40.7 % had abnormal chromosomes including aneuploidy, partial chromosome deletion and/or duplication. Most (65.6 %) samples had single chromosome anomalies, and 34.4 % of the samples had multiple chromosome anomalies. Chromosomal errors were observed in most chromosomes but chromosomes 21 and 22 had the most frequent chromosome anomalies. Transfer of 61 normal euploid blastocysts in 34 patients resulted in a 52.9 % clinical pregnancy rate and a 42.6 % implantation rate, and 41.2 % of the patients delivered normal babies or had ongoing pregnancy.

Conclusions: Frozen blastocysts can be warmed and biopsied for aneuploidy screening. These results may suggest that cryopreserved blastocysts can be warmed, biopsied and screened the day before embryo transfer, and such procedures may benefit patients who had previous implantation failures, or patients who did not have embryo screening before cryopreservation due to lack of embryo screening technology or other reasons.