2019 Fiscal Year Final Research Report
Study on the elucidation of the discordant result of NIPT and its clinical significance by MPS method
| Project/Area Number |
17K11219
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | International University of Health and Welfare (2018-2019)
Ochanomizu University (2017) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
関沢 明彦 昭和大学, 医学部, 教授 (10245839)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | NIPT / cell free DNA / discordant result / genetic counseling |
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| Outline of Final Research Achievements |
We analyzed the discordant results in NIPT(not reportable, false positive, false negative) by MPS methods, using cell-free DNA. Maternal obesity, twin pregnancy, maternal tumor, and heparin use were shown as factors for not reportable result.The effects of chromosomal microdeletion of fetus, maternal CNV, CPM, obesity, and maternal tumors were shown to differ depending on the type of genomic alteration. Furthermore, the involvement of vanishing Twin and CPM was confirmed as a factor of false positive, and it was found that CPM influences the background of false negative. These results indicate that various maternal and fetal pathologies are involved in the NIPT results, suggesting the need to explain the possibility of discordant results in advance by genetic counseling.
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| Free Research Field |
周産期遺伝学，遺伝カウンセリング
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| Academic Significance and Societal Importance of the Research Achievements |
cell-free DNAを用いたMPS法によるNIPTにおけるdisdordantな結果（判定保留，偽陽性，偽陰性）につき大量のデータを用い解析を行った結果，さまざまな母体と胎児双方の病態がその要因として関与していることが明らかになった．国内のエビデンスに基づいたdiscordantな結果についての情報提供が可能となり，予め検査前の遺伝カウンセリングにおいて説明することの必要性が示唆された．
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