More than 4000 preimplantation genetic diagnosis (PGD) cycles have been performed, suggesting that PGD may no longer be considered a research activity. The important present feature of PGD is its expansion to a variety of conditions, which have never been considered as an indication for prenatal diagnosis, including the late-onset disorders with genetic predisposition and preimplantation non-disease testing, with the further improvement of the accuracy of PGD for single gene disorders. PGD has also become a useful tool for the improvement of the effectiveness of IVF, through avoiding the transfer of chromosomally abnormal embryos, representing more than half of the embryos routinely transferred in IVF patients of advanced maternal age and other poor prognosis patients. PGD is of particular hope for the carriers of balanced chromosomal translocations, as it allows accurate pre-selection of a few balanced or normal embryos resulting from the extremely poor meiotic outcome, especially in reciprocal translocations. With the current progress in polymerase chain reaction- (PCR-) based detection of chromosomal abnormalities in oocytes and embryos, PGD may soon be performed for both chromosomal and single gene disorders using the same biopsied polar body or blastomere, frequently required with the currently expanded PGD application. The available clinical outcome data of more than 3000 PGD embryo transfers further suggest an acceptable pregnancy rate and safety of the procedure, as demonstrated by the follow-up information available for more than 500 children born from these PGD transfers.

https://www.rbmojournal.com/article/S1472-6483(10)61835-4/pdf

Current features of preimplantation genetic diagnosis.

The effect of translocations on embryo development was evaluated and results were compared in terms of embryo development with those of embryos obtained from standard intracytoplasmic sperm injection (ICSI) cycles. In 23 translocation carriers with 34 cycles, fertilization, pronuclear morphology scoring (PMS), developmental arrest, cleavage and blastocyst formation were evaluated and compared with embryos obtained from non-translocation cases undergoing ICSI (n = 98 cycles). In 28 cycles, preimplantation genetic diagnosis (PGD) was performed on prezygotes (first and second polar body biopsy for female carriers; n = 3) or on embryos having seven or more blastomeres (blastomere biopsy; n = 25). In six cycles for four couples, probes for translocated chromosomes were not available, so PGD could not be performed. Overall, in translocation cases, a lower fertilization rate, a higher rate of retarded embryo development, and a lower rate of blastocyst formation were observed compared with embryos of non-translocation cases. Fluorescence in-situ hybridization (FISH) analysis showed a 70.9% abnormality rate for reciprocal translocations and 55.0% for Robertsonian translocations respectively. In cases with Robertsonian and reciprocal translocation carriers, the probability of poor embryo development, which may be a result of high segregation abnormalities, may negatively affect the outcome of assisted reproductive techniques. This poor prognosis should also be considered when genetic counselling for translocation is given.

https://www.rbmojournal.com/article/S1472-6483(10)62073-1/pdf

Embryo development characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases.

O-12. Single-cell comparative genomic hybridization analysis of human preimplantation embryos from patients with balanced structural chromosome aberrations undergoing PGD

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O-12. Single-cell comparative genomic hybridization analysis of human preimplantation embryos from patients with balanced structural chromosome aberrations undergoing PGD