The Use Of FISH On The Gametes And Embryos Of The Carriers Of Chromosome Abnormality For PGD

Objectives:To test the unbalanced sperm rate in the carriers of structural chromosomal abnormality with FISH. To test the embryos of the carriers of structural or numberal chromosomal abnormality with FISH,and to select the normal or balanced embryos to transfer.To explore the value of PGD with FISH for the carriers of chromosomal aberrations.Methods:Fluorescence in situ hybridization(FISH) with probes on1000spermatozoa for a46,XY,inv(7)(pl3qll) carrier and2Robertsonian translocation carriers(45,XY,rob(14,21)(q10q10) and45,XY,rob(13,14)(ql0q10)) to ananlyse the rate of unbalanced sperm.5cycles of ICSI/PGD/ET was given to a46,XY,inv(7)(p13q11) carrier,2Robertsonian translocation carriers(45,XY,rob(14,21)(q10q10) and45,XY,rob(13,14)(q10q10)) and a47,XXX/46,XX(3:27).Biopsied the blastomere on Day3and FISH with telomor probes,subtelomor probes or CEP probes.After PGD,select the normal or balanced embryos to transfer.Results:The rate of unbalanced sperm of the3cases is26.2%、29.4%and23.6%.For the2robertsonion carriers,the rate of nullisomic sperm of is16.8%and16.3%,the rate of disomic sperm is5.7%and4.7%.There is difference between the rate of nullisomic and disomic sperm rate. In5cycles,123oocytes were retrieved,100were mature.Normal fertilization rate was74%(74/100).The cleavage rate was94.6%(70/74).The good quality embryo rate was44.3%(31/70).There are65embryos were biopsied. The fixation success rate was100%(65/65). The FISH success rate was96.9%(63/65). The normal/balanced embryos rate was53.8%(7/13)for the carier of inversion,9%(11/42) for Robertsonian translocation carriers and100%(5/5) for the aneuploidy carriers. In5cyles,12embryos were transferred,3embryos were frozen,1clinlcal pregnancies was achieved.The diagnosis was confirmed by amniocyte karyotyping at the20th weeken of pregnancy.Conclusion:The rate of unbalanced sperm of the3carriers is significantly higher than normal male,the rate of nullisomic sperm of the2robertsonion tanslocation is significantly higher than disomic.Embryos with abnormal chromosomes are difficult to implantation and tend to abortion at the first term,therefor,to improve the rate of implantation rate and to reduce the rate of abortion,it is important for the3carriers to proceed preimplantation genetic diagnosis(PGD). FISH-PGD can be the effective way for carriers of structural chromosomal abnormality and aneuploidy to get normal offspring.