Chromosomal abnormalities in spontaneous miscarriage specimens detected by combinatorial probe anchor synthesis?based high?throughput low coverage whole genome sequencing
10.3760/cma.j.issn.0529?567x.2019.12.004
- VernacularTitle:使用基于联合探针锚定聚合技术的高通量测序平台的低覆盖度全基因组测序检测自然流产组织中染色体异常的分析
- Author:
Xiaohua WANG
1
;
Ruifang BAI
;
Yan ZHOU
;
Hong DONG
;
Yunpeng JI
;
Dongxia HOU
;
Wurigumula
;
Xiaoling YANG
;
Xiaoping JI
Author Information
1. 内蒙古自治区妇幼保健院遗传优生科
- Keywords:
Abortion;
spontaneous;
Chromosome aberrations;
High-throughput nucleotide sequencing;
Whole genome sequencing
- From:
Chinese Journal of Obstetrics and Gynecology
2019;54(12):808-814
- CountryChina
- Language:Chinese
-
Abstract:
Objective To evaluate the application of combinatorial probe anchor synthesis (cPAS)?based high?throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ?500 high?throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS?based high?throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).
