[Application of sperm fluorescence in situ hybridization in preimplantation genetic diagnosis].

Objective: To investigate the role of sperm fluorescence in situ hybridization (FISH) in preimplantation genetic diagnosis (PGD) for male chromosomal disorders.

Methods: From Jul. 2006 to Aug. 2008, FISH was performed in sperm and embryo of 9 infertile couples due to male chromosomal abnormality including 7 couples with Robertsonian translocation, one couple with reciprocal translocation and one couple with Klinefelter's syndrome. Correlation analysis was performed between sperm and embryo FISH results.

Results: (1) FISH analysis of 8568 sperms showed 24 sperms had no fluorescence signals. The rate of normal/balanced sperm of carriers were 85.71% (6045/7053)in seven Robertsonian translocation, 30.42% (306/1006) in one reciprocal translocation and 68.76% (350/509) in Klinefelter's syndrome. (2) A total of 158 embryos were biopsied, of which 135 embryos were successfully fixed for FISH. A hundred and one embryos exhibit informative signal including 36 normal/balanced embryos and 75 abnormal embryos. Twenty-one embryos were transferred and one couple obtained successful term pregnancy. The rate of normal/balanced embryo were 29.0% (31/107) in 7 carriers of Robertsonian translocation, 6.3% (1/16) in one reciprocal translocation and 33.3% (4/12) in Klinefelter's syndrome. (3) A positive correlated relationship was found between the percentage of normal embryo and the percentage of normal sperm (r = 0.75, P = 0.02).

Conclusion: It is advisable to recommend the sperm FISH analysis for being routinely incorporated into the genetic screening offered prior to preimplantation genetic diagnosis.