大Y携带者不良孕产史与胚胎非整倍体率增高的关系

目的探讨1例有不良孕产史的大Y携带者的胚胎异常情况。方法1对有2次自然流产史的夫妇,男方染色体核型为46,XY,Yqh ,常规超促排卵和卵母细胞胞浆内单精子注射,受精后第3天和第4天进行胚胎活检,获取分裂球,采用18,X,Y三色着丝粒探针进行荧光原位杂交分析(FISH),第5天移植正常胚胎。异常胚胎及废弃胚胎所有分裂球第6天再次FISH确定胚胎核型。结果患者获卵19个,对其中13个M2期卵母细胞进行ICSI,12个受精,分裂11胚。10个胚胎获得明确诊断,其中4个正常胚胎,6个异常胚胎,异常发生率达60%。5个为女胚,其中1个正常核型,4个异常胚胎中2个为无序分裂,2个为嵌合体;5个为男胚,3个正常,2个异常胚胎中1个为无序分裂,1个为嵌合体。对染色体正常的1个女胚进行宫腔内移植,未获得妊娠。结论该例大Y患者胚胎非整倍体发生率增高可能是导致其不良孕产史的原因。

Increased aneuploid in a patient with large Y chromosome (Yqh+)

Objectives: This study is to investigate the abnormal embryo in a patient with chromosome the large Y(Yqh ) by preimplantation genetic diagnosis(PGD).Material and methods: The couple had two histories of spontaneous abortions,wife was a 27-year-old with normal karyotype.Husband was found that sperm was normal,but peripheral blood chromosome karyotype is 46,XY,Yqh .The patient was prepared for oocyte retrieval using standard controlled ovarian hyperstimulation protocols.The embryos biopsy were carried out by mechanical method at 6-8 cell stage on day 3 or day 4.one or two blastomere was removed from each embryo.All blastomeres were analysed using fluorescence in situ hybridization(FISH) with three color commercial chromosomal probes special for chromosomes X(Spectrum Green),Y(Spectrum Orange) and 18(Spectrum Aqua).Abnormal embryos and nonreplaced embryos were reanalyzed with all or most of their cells on day 6.Results: 11 embryos were biopsied.FISH results showed only four biopsied embryos were normal,including one female embryo and three male embryos.The others six embryos showed a high frequency of chromosome abnormalities,there were two mosaic and two chaotic female embryos,one mosaic male embryo and one chaotic male embryo. So only one normoploid female embryo was transferred on day 5,but no pregnancy was achieved.Conclusion: Aneuploid of preimplantational embryos might be related with spontaneous abortions in the patient with Yqh .