李肖华 1石子佳 2王俊霞 1程青青 1郑宗朋 1高健1
作者信息
- 1. 河北省人民医院生殖遗传科,石家庄 050051
- 2. 邯郸市第一医院胎儿医学科
- 折叠
摘要
Abstract
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 pa-tients with embryo damage,181 cases had abnormal chromosomes and 59 cases had normal chromosomes.Among 181 cas-es of abnormal chromosome villi tissues of patients with embryo damage,there were 97 cases of abnormal chromosome num-ber,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 spec-imens.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.Signif-icant 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.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Key words
chromosomes/chromosome abnormality/genome copy number variation sequencing/embryo dam-age/abortion/villous tissues分类
医药卫生
