Copy Number Variation Sequencing Combined with STR Linkage Analysis in Clinical Application Value of Abortion Tissues
10.11969/j.issn.1673-548X.2025.05.015
- VernacularTitle:CNV-seq联合STR连锁分析在流产物检测中的临床应用价值
- Author:
Bing WANG
1
;
Chunxiao HUA
1
;
Qimeng LIU
1
Author Information
1. 450000 郑州大学第二附属医院产科
- Publication Type:Journal Article
- Keywords:
Copy number variation sequencing;
Short tandem repeats chain analysis;
Abortion tissues;
Copy number variants;
Chromosomal abnormalities
- From:
Journal of Medical Research
2025;54(5):78-82,87
- CountryChina
- Language:Chinese
-
Abstract:
Objective Copy number variation sequencing(CNV-seq)and Short tandem repeats(STR)chain analysis were per-formed on 236 cases of abortion tissues to evaluate their clinical application value in analyzing chromosomal abnormalities in abortion tis-sues.Methods The abortion tissues of 236 patients with spontaneous abortion who visited the Prenatal Diagnosis Center of the Second Af-filiated Hospital of Zhengzhou University from March 2021 to August 2024 were collected.CNV-seq and STR linkage analysis were per-formed to determine chromosomal abnormalities with clinical significance in the abortion tissues,and the test results were analyzed.Results Of 236 abortion tissues,6 cases were excluded as serious maternal cell contamination;114 cases showed abnormal chromosomal results;and the remaining 86 were normal,with a positive detection rate of 62.61％(144/230).Abnormal results consisted of 110 aneu-ploidies(69.44％),7 polyploids(4.86％),and 27 copy number variants(18.75％).Most of the aneuploidies were autosomal triso-mies,and trisomy 16 was the most frequent trisomy,followed by trisomy 21.The frequency of chromosomal abnormalities in the advanced maternal age group was significantly higher than that in the younger maternal age group,and the frequency of chromosomal abnormalities in the early abortion group was significantly higher than that in the late abortion group,mainly reflected in the aneuploidy cases.Conclusion Chromosomal aneuploidies were the most common cause of spontaneous abortion;maternal age is closely related to the occurrence of fetal autosomal trisomy.Our study suggests that CNV-seq and STR linkage analysis are efficient and reliable technologies in the chromosome analysis of abortion tissues and could be used as a routine selection method for the genetic analysis of abortion tissues.
