The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing
Introduction: The sequencing-based noninvasive prenatal testing (NIPT) has been successfully integrated into clinical practice and facilitated the early detection of fetal chromosomal anomalies. However, a comprehensive reference material to evaluate and quality control NIPT services from different...
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| Veröffentlicht in: | Gynecologic and obstetric investigation 2021-05, Vol.86 (1-2), p.123-131 |
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| container_title | Gynecologic and obstetric investigation |
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| creator | Qu, Shoufang Zhang, Yanyan Yang, Xin Tan, Yueqiu Li, Ming Yang, Xuexi Zhou, Lijun Chen, Di Chen, Yangyi Yan, Miaoli Wang, Qiwei Yu, Ting Sun, Nan Jiang, Hui Su, Fengxia Di, Yufen Lin, Ge Yuan, Yuying Chen, Fang Mu, Feng Huang, Jie |
| description | Introduction: The sequencing-based noninvasive prenatal testing (NIPT) has been successfully integrated into clinical practice and facilitated the early detection of fetal chromosomal anomalies. However, a comprehensive reference material to evaluate and quality control NIPT services from different NIPT providers remains unavailable. Methods: In this study, we established a set of NIPT reference material consisting of 192 simulated samples. Most of the potential factors influencing the accuracy of NIPT, such as fetal fraction, mosaicism, and interfering substances, were included in the reference material. We compared the performance of chromosomal abnormalities detection on 3 widely used sequencers (NextSeq 500, BGISEQ-500, and Ion Proton) based on the reference material. Results: All 3 sequencers provided highly accurate and reliable results to samples with ≥3.5% fetal fractions and high percentage of mosaicism. Conclusions: The established reference material can serve as a universal standard quality control for the current and new-coming NIPT providers based on various sequencers. |
| doi_str_mv | 10.1159/000513472 |
| format | Article |
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However, a comprehensive reference material to evaluate and quality control NIPT services from different NIPT providers remains unavailable. Methods: In this study, we established a set of NIPT reference material consisting of 192 simulated samples. Most of the potential factors influencing the accuracy of NIPT, such as fetal fraction, mosaicism, and interfering substances, were included in the reference material. We compared the performance of chromosomal abnormalities detection on 3 widely used sequencers (NextSeq 500, BGISEQ-500, and Ion Proton) based on the reference material. Results: All 3 sequencers provided highly accurate and reliable results to samples with ≥3.5% fetal fractions and high percentage of mosaicism. Conclusions: The established reference material can serve as a universal standard quality control for the current and new-coming NIPT providers based on various sequencers.</description><identifier>ISSN: 0378-7346</identifier><identifier>EISSN: 1423-002X</identifier><identifier>DOI: 10.1159/000513472</identifier><identifier>PMID: 33784691</identifier><language>eng</language><publisher>Basel, Switzerland</publisher><subject>Research Article</subject><ispartof>Gynecologic and obstetric investigation, 2021-05, Vol.86 (1-2), p.123-131</ispartof><rights>2021 S. Karger AG, Basel</rights><rights>2021 S. Karger AG, Basel.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c334t-683ff72a3d60783bc0c6ff59a309036a9e21b2340b5d04b469da77a0dd4c5ea43</citedby><cites>FETCH-LOGICAL-c334t-683ff72a3d60783bc0c6ff59a309036a9e21b2340b5d04b469da77a0dd4c5ea43</cites><orcidid>0000-0002-3212-4804</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2429,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33784691$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Qu, Shoufang</creatorcontrib><creatorcontrib>Zhang, Yanyan</creatorcontrib><creatorcontrib>Yang, Xin</creatorcontrib><creatorcontrib>Tan, Yueqiu</creatorcontrib><creatorcontrib>Li, Ming</creatorcontrib><creatorcontrib>Yang, Xuexi</creatorcontrib><creatorcontrib>Zhou, Lijun</creatorcontrib><creatorcontrib>Chen, Di</creatorcontrib><creatorcontrib>Chen, Yangyi</creatorcontrib><creatorcontrib>Yan, Miaoli</creatorcontrib><creatorcontrib>Wang, Qiwei</creatorcontrib><creatorcontrib>Yu, Ting</creatorcontrib><creatorcontrib>Sun, Nan</creatorcontrib><creatorcontrib>Jiang, Hui</creatorcontrib><creatorcontrib>Su, Fengxia</creatorcontrib><creatorcontrib>Di, Yufen</creatorcontrib><creatorcontrib>Lin, Ge</creatorcontrib><creatorcontrib>Yuan, Yuying</creatorcontrib><creatorcontrib>Chen, Fang</creatorcontrib><creatorcontrib>Mu, Feng</creatorcontrib><creatorcontrib>Huang, Jie</creatorcontrib><title>The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing</title><title>Gynecologic and obstetric investigation</title><addtitle>Gynecol Obstet Invest</addtitle><description>Introduction: The sequencing-based noninvasive prenatal testing (NIPT) has been successfully integrated into clinical practice and facilitated the early detection of fetal chromosomal anomalies. However, a comprehensive reference material to evaluate and quality control NIPT services from different NIPT providers remains unavailable. Methods: In this study, we established a set of NIPT reference material consisting of 192 simulated samples. Most of the potential factors influencing the accuracy of NIPT, such as fetal fraction, mosaicism, and interfering substances, were included in the reference material. We compared the performance of chromosomal abnormalities detection on 3 widely used sequencers (NextSeq 500, BGISEQ-500, and Ion Proton) based on the reference material. Results: All 3 sequencers provided highly accurate and reliable results to samples with ≥3.5% fetal fractions and high percentage of mosaicism. 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| title | The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing |
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