摘要
目的分析胚胎停育患者绒毛组织染色体检测结果。方法选取胚胎停育患者的流产绒毛组织240例份,采用基因组拷贝数变异测序检测染色体。结果240例份胚胎停育患者流产绒毛组织中,染色体异常181例份、染色体正常59例份。181例份染色体异常绒毛组织中,染色体数目异常97例份,其中常染色体三体76例份、性染色体单体18例份、三倍体3例份;结构异常120例份;部分标本同时出现染色体数目异常和结构异常。育龄(208例)和高龄(32例)胚胎停育患者流产绒毛组织中染色体异常分别为157例份、24例份。育龄者常染色体三体61例份、性染色体单体16例份、三倍体3例份,高龄者分别为15、2、0例份,两者常染色体三体例份数比较,P<0.05。胚胎停育1次、2次、3次、4次、≥5次患者(136、51、33、15、5例)流产绒毛组织染色体异常例份数分别为100、46、22、9、4例份,胚胎停育2次者分别与胚胎停育3次、4次者比较,P均<0.05。胚胎停育1次、2次、3次、4次、≥5次患者流产绒毛组织染色体数目异常例份数分别为58、26、11、2、0例份,胚胎停育1次者、2次者分别与胚胎停育4次者比较,P均<0.05。CNV一共检测出120例份,其中18例份为致病性,2例份为可能致病,87例份为临床意义未明,13例份为可能良性。结论胚胎停育患者流产绒毛组织染色体异常率较高,异常类型为染色体数目异常或结构异常,常染色体多数以三体发生常见,其中16-三体发生率最高,其次为22-三体、15-三体、21-三体等;性染色体异常以X单体为常见。育龄和高龄胚胎停育患者流产绒毛组织染色体异常无差异,但不同胚胎停育次数患者流产绒毛组织染色体异常存在差异。
Objective To analyze chromosomal detection results of villi tissues of patients with embryo damage.Methods A total of 240 aborted villi tissues were selected from patients with embryo damage,and the chromosomes were detected by genome copy number variation sequencing(CNV-seq).Results In 240 cases of aborted villi tissues of patients with embryo damage,181 cases had abnormal chromosomes and 59 cases had normal chromosomes.Among 181 cases of abnormal chromosome villi tissues of patients with embryo damage,there were 97 cases of abnormal chromosome number,including 76 cases of autosomal trisomy,18 cases of sex chromosome monomer and 3 cases of triploid.There were 120 cases with abnormal chromosome structure.Chromosome number and structure abnormalities were found in some specimens.There were 157 and 24 chromosomal abnormalities in the aborted villi tissues of patients of childbearing age(208 cases)and elderly parturient women(32 cases),respectively.There were 61 cases of autosomal trisomy,16 cases of sex chromosome monomer and 3 cases of triploid in childbearing age,and 15,2 and 0 cases of senior age,respectively.Significant difference was found in the number of autosomal trisomy between the two groups(P<0.05).There were 100,46,22,9 and 4 cases of chromosomal abnormality of aborted villus tissues in patients with 1,2,3,4 and≥5 times of embryo damage(136,51,33,15 and 5 cases),respectively.There was statistically significant difference between the patients with twice embryo damage and patients with three or four times of embryo damage(P<0.05).There were 58,26,11,2 and 0 cases of abnormal chromosome number of aborted villus tissues in patients with 1,2,3,4 and≥5 times of embryo damage,respectively.Significant difference was found between the patients with once,twice embryo damage and patients with four times of embryo damage(P<0.05).A total of 120 cases of CNV were detected,of which 18 were pathogenic,2 were probable pathogenic,87 were of unknown clinical significance,and 13 were likely benign.Conclusions The rate of chromosomal abnormalities in the aborted villi tissues is higher in patients with embryo damage,and the type of abnor-malities is abnormal chromosome number or structure.Trisomy is the most common occurrence of autosomal majority,and the incidence of 16-trisomy is the highest,followed by 22-trisomy,15-trisomy,21-trisomy,etc.X monomer is the most common sex chromosome abnormality.There is no difference in chromosome abnormality of aborted villi tissue between the patients of childbearing age and the old age,but there is adifference in chromosome abnormality of aborted villi tissues be-tween the patients of different times of embryo damage.
作者
李肖华
石子佳
王俊霞
程青青
郑宗朋
高健
LI Xiaohua;SHI Zijia;WANG Junxia;CHENG Qingqing;ZHENG Zongpeng;GAO Jian(Department of Reproductive Genetics,Hebei General Hospital,Shijiazhuang 050051,China;不详)
出处
《山东医药》
CAS
2023年第36期1-4,共4页
Shandong Medical Journal
关键词
染色体
染色体异常
基因组拷贝数变异测序
胚胎停育
流产
绒毛组织
chromosomes
chromosome abnormality
genome copy number variation sequencing
embryo dam-age
abortion
villous tissues
