Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program. |
Jin Hyun Jun, Gyun Jee Song, Jeong Wook Kim, So Yeon Park, Kye Hyun Kim, Bum Chae Choi, Mi Kyoung Koong, Inn Soo Kang, Chun Kyu Lim, Mi Hyun Han |
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Abstract |
OBJECTIVE This study was performed to evaluate the efficiency of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization (FISH) in Robertsonian or balanced reciprocal translocation carriers in human IVF-ET programm. METHOD: FISH was carried out in 25 cycles of 15 couples. Two-color FISH analysis was performed on 54 polar bodies in 3 cycles and 234 blastomeres in 22 cycles. After FISH analysis, the embryos with normal FISH signals were transferred into mother's uterus. RESULTS: In FISH analysis of polar bodies, 18 nuclei of polar bodies were normal and 12 embryos were transferred in 3 cycles. FISH efficiency per oocyte was 95.0% in cases using polar bodies. In FISH analysis of blastomeres, 49 embryos were normal and transferred in 21 cycles. FISH efficiency per embryo was 92.7% using blastomeres. At present, three pregnancies were achieved. A girl and a boy were delivered. Both of them were translocation carriers. The other conceptus showed normal karyotype. CONCLUSIONS: According to this study, PGD using FISH can be successfully applied for the patients with translocations of chromosomes. |
Key Words:
Preimplantation genetic diagnosis (PGD), Fluorescence in-situ hybridization (FISH), Balanced reciprocal translocation, Robertsonian translocation, IVF-ET, Robertsonian |
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