摘要
目的通过种植前遗传学筛查患者的胚胎和染色体结果分析,比较卵裂期与囊胚期胚胎染色体数目异常。方法收集2015年1月1日至2017年4月30日西北妇女儿童医院生殖中心行种植前遗传学筛查(PGS)患者,胚胎培养至卵裂期和囊胚期活检,PGS检测采用array-CGH(BlueGnome 24SureV3),比较卵裂期与囊胚期胚胎染色体的结果。结果 PGS共活检348枚胚胎,其中卵裂期67例,囊胚期281例,囊胚期胚胎的整倍体率高于卵裂期胚胎(43.68%vs 14.75%,P<0.01),卵裂期胚胎中异常染色体的数目≥5条最为常见(42.31%),而囊胚中异常染色体数目为1条最为常见(53.79%)。卵裂期胚胎中20,21,16,14号染色体发生率较高(>5.00%);8,4,12号染色体发生率较低(<3.00%)。囊胚中22,16,19,7,1,性染色体,21,15号染色体发生率较高(>5.00%);10,17,12,3号染色体发生率较低(<3.00%)。在染色体缺失异常中,20,16,22,1,21号染色体发生率较高(8.14%,6.98%,6.98%,6.59%,5.81%,均>5.50%);3号染色体缺失发生率低(0.78%)。染色体重复异常中19,16,22,21,性染色体,7,15,13号染色体发生率较高(>5.50%);12号染色体缺失发生率最低(1.46%)。结论囊胚期胚胎的整倍体率高于卵裂期胚胎,卵裂期胚胎中异常染色体的数目≥5条最为常见,囊胚中异常染色体数目为1条最为常见。卵裂期胚胎中20,21,16,14号染色体发生率较高,而囊胚22,16,19,7,1,性染色体,21,15号染色体发生率较高。
Objective To compare the chromosomal abnormalities in cleavage and blastocyst stages by analyzing the chromosome results of patients undergoing preimplantation genetic screening.Methods Patients undergoing preimplantation genetic screening（PGS）in reproductive center of Northwest Women and Children＇s Hospital from January 1,2015 to April 30,2017 were collected,and embryo biopsy was carried out when embryo was cultured to cleavage and blastocyst stage.Array-comparative genomic hybridization（array-CGH）（Blue Gnome 24 SureV3）was adopted for PGS.Embryo chromosome analyzing results in blastocyst and cleavage stages were compared.Results A total of 348 embryos were examined in PGS,including 67 embryos in cleavage stage and 281 in blastocyst stage.Aneuploidy rate of embryo in blastocyst stage was higher than that in cleavage stage（43.68% vs 14.75%,P〈0.01）.It was most common in embyos in cleavage stage that more than 5 chromosomes were abnormal（42.31%）while one abnormal chromosome in blastocysts was most common（53.79%）.In embryos in cleavage stage,incidence of abnormality in chromosome 20,21,16 and 14 was high（5.00%）,while that in chromosome 8,4 and 12 was low（3.00%）.Abnormal rate of sex chromosome 22,16,19,7 and 1 and chromosome 21 and 15 was high in blastocysts（5.00%）,but abnormal rate of chromosome 10,17,12 and 3 was low（3.00%）.For chromosome deletion abnormalities,incidence of chromosome deletion in chromosome 20,16,22,1 and 21 was high（8.14%,6.98%,6.98%,6.59%and 5.81%,respectively,all above 5.50%）,and incidence of chromosome deletion was low in chromosome 3（0.78%）.Incidence of chromosome duplication abnormality in sex chromosome 19,16,22 and 21 and chromosome 7,15,13 was high（5.50%）,and that in chromosome 12 was the lowest（1.46%）.Conclusion Aneuploidy rate of embryo in blastocyst stage is higher than that in cleavage stage.It is most common in embryos in cleavage stage that more than 5 chromosomes are abnormal,and one abnormal chromosome in blastocyst is most
出处
《中国妇幼健康研究》
2017年第11期1367-1370,共4页
Chinese Journal of Woman and Child Health Research
关键词
植入前遗传学筛查
卵裂期胚胎
囊胚
染色体异常
非整倍体
preimplantation genetic screening （PGS）
embryos in cleavage stage
blastocyst
chromosomal abnormalities
aneuploidy
