ISSN: 2375-4508
Tali Mishael, Talia Eldar-Geva1, Sharon Zeligson, Rachel Beeri, David A Zeevi, Paul Renbaum, Orit Lobel, Yafa Nevo, Raphael Ron-El, Ehud J Margalioth, Ephrat Levy-Lahad and Gheona Altarescu
Introduction : Preimplantation genetic diagnosis (PGD) of balanced translocations is usually performed using Fluorescence in Situ Hybridization (FISH), and more rarely by Polymerase Chain Reaction (PCR). These methods assess only chromosomes involved in the translocation, as opposed to array comparative genomic hybridization (aCGH) which screens all chromosomes.
Material and Methods : In this report, we compared the diagnosis and pregnancy rates for balanced translocations using all three techniques in a retrospective study of 75 PGD cycles.
Results: Of 331 embryos analyzed by FISH, 225 (68%) were successfully diagnosed, 34 (15%) were transferable yielding a pregnancy rate of 13% per Ovum-Pick-Up (OPU). With PCR, 80 out of 124 embryos (65%) were diagnosed, 21 (26%) were transferable, and a pregnancy rate of 14.3% per OPU was achieved. Using aCGH, 60 of 71 embryos (85%) were successfully diagnosed, 26 of which (43%) presented with chromosomal aneuploidies not associated with the parental translocation. Nine embryos diagnosed by aCGH were transferable yielding a pregnancy rate of 40% per OPU. The proportion of embryos successfully diagnosed and pregnancy rates per OPU were significantly higher using aCGH compared to FISH or PCR (p= 0.036; p=0.017), respectively.
Conclusion : Altogether, these data indicate that the use of aCGH for chromosomal translocation PGD significantly increases diagnosis and pregnancy rates.