open access

Vol 89, No 6 (2018)
Research paper
Published online: 2018-06-29
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Next generation sequencing as a new detection strategy for maternal cell contamination in clinical prenatal samples

Xiaojie Lin1, Huafeng Li1, Ling Liu2, Lingyin Kong3, Yan Mao3, Wen Li3, Yingying Xia3, Bo Liang4, Yanli Zhang1
DOI: 10.5603/GP.a2018.0056
·
Pubmed: 30010182
·
Ginekol Pol 2018;89(6):326-334.
Affiliations
  1. Women and Children's Hospital of Linyi City, Shandong Province, 1 Qinghenan Road, Bingheyuan, Linyi, Shandong, 276000 Linyi, China
  2. Pingyi Maternal and Child Health Hospital of Linyi City, Shandong Province, 103 Lianhuashan Road, Pingyi, Linyi, Shandong, 273300 Linyi, China
  3. Basecare Medical Device Co., Ltd.,, 218 Xinghu Road, SIP., Suzhou, Jiangsu, 215000 Suzhou, China
  4. School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai, 200240 Shanghai, China

open access

Vol 89, No 6 (2018)
ORIGINAL PAPERS Obstetrics
Published online: 2018-06-29

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.

Get Citation

Keywords

STR, NGS, maternal cell contamination, prenatal diagnosis

About this article
Title

Next generation sequencing as a new detection strategy for maternal cell contamination in clinical prenatal samples

Journal

Ginekologia Polska

Issue

Vol 89, No 6 (2018)

Article type

Research paper

Pages

326-334

Published online

2018-06-29

DOI

10.5603/GP.a2018.0056

Pubmed

30010182

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

References (20)
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