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Next generation sequencing as a new detection strategy for maternal cell contamination in clinical prenatal samples
Affiliations- Women and Children's Hospital of Linyi City, Shandong Province, 1 Qinghenan Road, Bingheyuan, Linyi, Shandong, 276000 Linyi, China
- Pingyi Maternal and Child Health Hospital of Linyi City, Shandong Province, 103 Lianhuashan Road, Pingyi, Linyi, Shandong, 273300 Linyi, China
- Basecare Medical Device Co., Ltd.,, 218 Xinghu Road, SIP., Suzhou, Jiangsu, 215000 Suzhou, China
- School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai, 200240 Shanghai, China
open access
Abstract
Objectives: The maternal cell contamination in chorionic villus or amniotic fluid presents a serious preanalytical risk for prenatal misdiagnosis. The following study presents and validates a novel process for identifying MCC by detecting short tandem repeat markers on Ion Proton system. Initially, MCC testing was performed during the detection of chromosomal abnormalities so as to improve the detection efficiency and accuracy of this method.
Material and methods: More than 70 STR loci were selected to establish the detection progress. Capillary electrophoresis was used to compare the next generation sequencing detection results, as well as to identify the optimal STR on Ion Proton system. Evaluation criteria for maternal cell contamination were set, and the automated data analysis was performed. The detection sensitivity was validated via 4 groups with mixed samples and different proportions.
Results: Consequently, twenty-three clinical samples were tested to evaluate the detection accuracy. In addition, 14 reliable STR loci, which were stably detected in more than 25 samples, were found. The detection sensitivity in maternal cell contamination was no less than 20%, while its accuracy reached 100% in clinical samples.
Conclusions: Finally, we established and validated a novel detection procedure for maternal cell contamination in clinical prenatal samples using next generation sequencing. This procedure allowed us to simultaneously perform prenatal testing and MCC testing. Unlike the traditional capillary electrophoresis, this method is rapid, highly sensitive, and suitable for wide range of clinical applications.
Abstract
Objectives: The maternal cell contamination in chorionic villus or amniotic fluid presents a serious preanalytical risk for prenatal misdiagnosis. The following study presents and validates a novel process for identifying MCC by detecting short tandem repeat markers on Ion Proton system. Initially, MCC testing was performed during the detection of chromosomal abnormalities so as to improve the detection efficiency and accuracy of this method.
Material and methods: More than 70 STR loci were selected to establish the detection progress. Capillary electrophoresis was used to compare the next generation sequencing detection results, as well as to identify the optimal STR on Ion Proton system. Evaluation criteria for maternal cell contamination were set, and the automated data analysis was performed. The detection sensitivity was validated via 4 groups with mixed samples and different proportions.
Results: Consequently, twenty-three clinical samples were tested to evaluate the detection accuracy. In addition, 14 reliable STR loci, which were stably detected in more than 25 samples, were found. The detection sensitivity in maternal cell contamination was no less than 20%, while its accuracy reached 100% in clinical samples.
Conclusions: Finally, we established and validated a novel detection procedure for maternal cell contamination in clinical prenatal samples using next generation sequencing. This procedure allowed us to simultaneously perform prenatal testing and MCC testing. Unlike the traditional capillary electrophoresis, this method is rapid, highly sensitive, and suitable for wide range of clinical applications.
Keywords
STR, NGS, maternal cell contamination, prenatal diagnosis
About this articleTitle
Next generation sequencing as a new detection strategy for maternal cell contamination in clinical prenatal samples
Journal
Issue
Article type
Research paper
Pages
326-334
Published online
2018-06-29
Page views
1602
Article views/downloads
1381
DOI
Pubmed
Bibliographic record
Ginekol Pol 2018;89(6):326-334.
Keywords
STR
NGS
maternal cell contamination
prenatal diagnosis
Authors
Xiaojie Lin
Huafeng Li
Ling Liu
Lingyin Kong
Yan Mao
Wen Li
Yingying Xia
Bo Liang
Yanli Zhang
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