Array-Comparative-Genomic-Hybridization (Acgh) Based Preimplantation-Genetic-Diagnosis (PGD) for Balanced Translocation Carriers Improves both Diagnostic and Pregnancy Rates Compared to Fluorescent-In-Situ-Hybridization (FISH) and Polymerase-Chain-Reaction (PCR) Based PGD*Corresponding Author: Gheona Altarescu, Medical Genetics Institute, 'ZOHAR' PGD Lab, Shaare Zedek Medical Center, Jerusalem, Israel, Tel: 97226666435, Fax: 97226666935, Email: [email protected]
Received Date: Jan 25, 2015 / Accepted Date: Mar 31, 2015 / Published Date: Apr 07, 2015
Citation: Mishael T, Eldar-Geva T, Zeligson S, Beeri R, Zeevi DA, et al. (2015) Array-Comparative-Genomic-Hybridization (Acgh) Based Preimplantation-Genetic- Diagnosis (PGD) for Balanced Translocation Carriers Improves both Diagnostic and Pregnancy Rates Compared to Fluorescent-In-Situ-Hybridization (FISH) and Polymerase-Chain-Reaction (PCR) Based PGD. JFIV Reprod Med Genet 3:147.
Copyright: © 2015 . This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.