Application of chromosomal microarray analysis and next-generation sequencing for the analysis of abortic tissues.
10.3760/cma.j.issn.1003-9406.2019.07.005
- Author:
Wei ZHAO
1
;
Shuo LI
;
Yan MIAO
;
Jiashan LI
;
Dongyi YU
Author Information
1. Genetic Testing Center, Qingdao Women and Children's Hospital, Qingdao, Shandong 266034, China. vivid21@sina.com.
- Publication Type:Journal Article
- MeSH:
Abortion, Spontaneous;
genetics;
Chromosome Aberrations;
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Microarray Analysis;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(7):676-681
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) for the analysis of abortic tissues.
METHODS:A total of 242 samples of spontaneous abortion were collected and tested by CMA or NGS.
RESULTS:The detection was successfully in 238 cases (98.35%). In total 143 cases of chromosomal abnormalities were detected, which accounted for 60.08% of all cases. Numerical chromosomal abnormalities were found in 133 cases(93.01%), structural abnormalities were found in 9 cases (6.29%), and uniparental disomy was found in 1 case(0.70%).
CONCLUSION:Both CMA and NGS have the advantages of high-throughput, good coverage, high resolution and rapid analysis. They can be used for the detection of the causes of spontaneous abortions. CMA is more useful for the detection of aneuploidies and uniparental disomy, while NGS has advantages in its throughput, capacity in detecting low percentage chimerism and cost, which can provide more options for clinicians.
