Abstract
To evaluate preimplantation genetic diagnosis (PGD) efficiency in thawed human embryos vitrified without biopsy. In this retrospective clinical study, 21 PGD cycles were carried out using fresh and vitrified-thawed embryos collected from 21 patients. One hundred and ninety-nine embryos from patients with aneuploidy, single gene defects, or chromosomal translocations were vitrified at the cleavage stages; 93.5% of the embryos survived the vitrification procedure. Conclusive FISH results were obtained in 98.4% of the fresh and 99% of the frozen-thawed embryos screened for aneuploidy or chromosomal translocations. Conclusive PCR test results were obtained in 100% of the fresh and 93.9% of the frozen-thawed embryos screened for single gene defects. The overall clinical pregnancy rate per cycle was 57.1%. To date, 13 healthy children have been born. Reliable genetic diagnosis can be performed in thawed human embryos vitrified without biopsy. However, further research is required to support this conclusion.
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