[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).


CONCLUSIONS
It is advisable to recommend the sperm FISH analysis for being routinely incorporated into the genetic screening offered prior to preimplantation genetic diagnosis.
Li
Gang
G
Reproductive Medical Center, First Affiliated Hospital, Zhengzhou University, Zhengzhou, China.
Sun
Ying-Pu
YP
Jin
Hai-Xia
HX
Xin
Zhi-Min
ZM
Dai
Shan-Jun
SJ
D025063:Chromosome Disorders / Q000175:diagnosis*; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007248:Infertility, Male / Q000175:diagnosis* / Q000209:etiology; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis; D013076:Sperm Count; D013094:Spermatozoa / Q000502:physiology; D014178:Translocation, Genetic