Application of array-based comparative genomic hybridization technique in genetic analysis of ;patients with spontaneous abortion
10.3760/cma.j.issn.0529-567x.2016.08.008
- VernacularTitle:微阵列比较基因组杂交技术在自然流产遗传学分析中的应用
- Author:
Yan CHU
;
Dong WU
;
Qiaofang HOU
;
Xiaodong HUO
;
Yue GAO
;
Tao WANG
;
Hongdan WANG
;
Yanli YANG
;
Shixiu LIAO
- Publication Type:Journal Article
- Keywords:
Abortion,spontaneous;
Microarray analysis;
Karyotyping;
Comparative genomic hybridization
- From:
Chinese Journal of Obstetrics and Gynecology
2016;51(8):592-596
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the value of array-based comparative genomic hybridization (array-CGH) technique for the detection of chromosomal analysis of miscarried embryo, and to provide genetic counseling for couples with spontaneous abortion. Methods Totally 382 patients who underwent miscarriage were enrolled in this study. All aborted tissues were analyzed with conventional cytogenetic karyotyping and array-CGH, respectively. Results Through genetic analysis, all of the 382 specimens were successfully analyzed by array-CGH (100.0%, 382/382), and the detection rate of chromosomal aberrations was 46.6% (178/382). However, conventional karyotype analysis was successfully performed in 281 cases (73.6%, 281/382), and 113 (40.2%, 113/281) were found with chromosomal aberrations. Of these 178 samples identified by array-CGH, 163 samples (91.6%, 163/178) were aneuploidy, 15 samples (8.4%, 15/178) were segmental deletion and (or) duplication cases. Four of 10 cases with small segmental deletion and duplication were validated to be transferred from their fathers or mathers who were carriers of submicroscopic reciprocal translocation. Of these 113 abnormal karyotypes founded by conventional karyotyping, 108 cases (95.6%, 108/113) were aneuploidy and 5 cases (4.4%, 5/113) had chromosome structural aberrations. Most array-CGH results were consistent with conventional karyotyping but with 3 cases of discrepancy, which included 2 cases of triploids, 1 case of low-level mosaicism that undetcted by array-CGH. Conclusions Compared with conventional karyotyping, there is an increased detection rate of chromosomal abnormalities when array-CGH is used to analyse the products of conception, primarilly because of its sucess with nonviable tissues. It could be a first-line method to determine the reason of miscarrage with higher accuracy and sensitivity.
