Efficacy of Preimplantation Genetic Diagnosis (PGD) Using Fluorescent In-Situ Hybridization (FISH) in Balanced Reciprocal or Robersonian Translocation Carriers Undergoing Human IVF-ET Program

Abstract

Objectives: This study was performed to evaluate efficiency of PGD using FISH in balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program.Design: A retrospective study of balanced reciprocal or Robertsonian translocation carriers undergoing IVF-ET from 1999 to 2000 at our hospital was performed.Materials and Methods: FISH was carried out in total 30 cycles of 20 couples with reciprocal translocation (19 cycles of 15 couples) and Robertsonian translocation (11 cycles of five couples). Two-color FISH analysis was performed on 259 blastomeres in 25 cycles and three-color FISH analysis was performed on 57 blastomeres in five cycles. Mieotic segregation pattern was examined in three-color FISH. After FISH analysis, the embryos with normal FISH signals were transferred into the uterus.Results: In two-color FISH analysis, normal 55 embryos were transferred in 24 cycles and FISH efficiency per embryo was 94.7%. In three-color FISH analysis, normal nine embryos were transferred in four cycles and FISH efficiency per embryo was 96.2%. The meiotic pattern of adjacent-1, adjacent-2, alternate, 3:1 and chaotic segregation were 17.2% (10/58), 20.0% (11/58), 20.7% (12/58) 13.8% (8/58) and 29.3% (17/58), respectively. At present, five pregnancies were achieved after 28 cycles of embryo transfer in 19 couples. A girl and a boy were delivered at term. Both of them were healthy translocation carriers. Among the other three conceptions, one was confirmed as normal and one was Robrertsonian translocation carrier by amniocentesis. The other conception is not confirmed yet.Conclusions: The efficiency of PGD using FISH was above 95% and all conceptions after PGD using FISH were confirmed correct as normal or translocation carrier. Two or three-color FISH can be successfully applied for the patients with translocations of chromosomes. Objectives: This study was performed to evaluate efficiency of PGD using FISH in balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program. Design: A retrospective study of balanced reciprocal or Robertsonian translocation carriers undergoing IVF-ET from 1999 to 2000 at our hospital was performed. Materials and Methods: FISH was carried out in total 30 cycles of 20 couples with reciprocal translocation (19 cycles of 15 couples) and Robertsonian translocation (11 cycles of five couples). Two-color FISH analysis was performed on 259 blastomeres in 25 cycles and three-color FISH analysis was performed on 57 blastomeres in five cycles. Mieotic segregation pattern was examined in three-color FISH. After FISH analysis, the embryos with normal FISH signals were transferred into the uterus. Results: In two-color FISH analysis, normal 55 embryos were transferred in 24 cycles and FISH efficiency per embryo was 94.7%. In three-color FISH analysis, normal nine embryos were transferred in four cycles and FISH efficiency per embryo was 96.2%. The meiotic pattern of adjacent-1, adjacent-2, alternate, 3:1 and chaotic segregation were 17.2% (10/58), 20.0% (11/58), 20.7% (12/58) 13.8% (8/58) and 29.3% (17/58), respectively. At present, five pregnancies were achieved after 28 cycles of embryo transfer in 19 couples. A girl and a boy were delivered at term. Both of them were healthy translocation carriers. Among the other three conceptions, one was confirmed as normal and one was Robrertsonian translocation carrier by amniocentesis. The other conception is not confirmed yet. Conclusions: The efficiency of PGD using FISH was above 95% and all conceptions after PGD using FISH were confirmed correct as normal or translocation carrier. Two or three-color FISH can be successfully applied for the patients with translocations of chromosomes.