安徽医科大学学报2018，Vol.53Issue(2)：266-270,5.DOI:10.19405/j.cnki.issn1000-1492.2018.02.021
高通量基因测序技术在自然流产胎儿绒毛染色体的核型分析
Application of next-generation sequencing technique in chromosome karyotype analysis of spontaneous abortion villi
摘要
Abstract
Objective To investigate the occurrence of chromosomal abnormalities in spontaneous abortion villi derived from both natural pregnancy (NP) and assisted reproductive technology (ART). Methods Chromosome karyotype analysis of fetal villi were carried out in 364 cases of abortion women through high-throughput sequencing technology, and the trisomy was grouped into A, B, C, D, E, F, G seven groups according to the karyotype of nonbanding chromosome. Results ① Of the 364 cases, abnormal karyotypes were identified in 178 cases (48. 90％ ), and the incidence of chromosomal abnormalities in NP group was significantly higher than ART group (52. 85％ vs 40. 68％ ) (P =0. 033). Moreover, trisomy was the most frequent abnormal karyotype (65. 17％ ), followed by the copy number variation (15. 73％ );② There was no significant difference in incidences of chromosomal abnormality between <35 years and ≥35 years in ART group, while which showed significant difference in NC group (P =0. 005);③ There were significant difference in incidence of chromosomal abnormality between female embryos and male embryos (46. 89％ vs 53. 11％, P=0. 007);④ Recurrent spontaneous abortion was the most common cause of infertility in ART group, and the incidence of villi chromosomal abnormality was up to 60. 00％;⑤ Chromosomal abnormalities in both female and male embryos were mainly distributed in group E and group G, while chromosomal abnormality of A group in male embryos were significantly more than female (P =0. 007). Conclusion Numerical abnormalities of chromosomes are the most important cause of early spontaneous abortion, and karyotype analysis of the villus is helpful for identifying the cause of abortion and could provide some valuable information for genetic counselling of next pregnancy.关键词
高通量基因测序技术/自然流产/胎儿绒毛/染色体/核型分析Key words
next-generation sequencing technique/spontaneous abortion/chorionic villus/chromosome/karyotype analysis分类
医药卫生引用本文复制引用
方有燕,吴欢,贺小进,陈大蔚,周一茹,周平,曹云霞,魏兆莲..高通量基因测序技术在自然流产胎儿绒毛染色体的核型分析[J].安徽医科大学学报,2018,53(2):266-270,5.基金项目
安徽省自然科学基金(编号:1708085MH214) （编号:1708085MH214）
