Ontology type: schema:ScholarlyArticle
2019-04-12
AUTHORSXing Ji, Jia Li, Yonghua Huang, Pi-Lin Sung, Yuying Yuan, Qiang Liu, Yan Chen, Jia Ju, Yafeng Zhou, Shujia Huang, Fang Chen, Yuan Han, Wen Yuan, Cheng Fan, Qiang Zhao, Haitao Wu, Suihua Feng, Weiqiang Liu, Zhihua Li, Jingsi Chen, Min Chen, Hong Yao, Li Zeng, Tao Ma, Shushu Fan, Jinman Zhang, Ka Yiu Yuen, So Hin Cheng, Irene Wing Shan Chik, Nien-Tzu Liu, Jianyu Zhu, Siyuan Lin, Jeremy Cao, Steve Tong, Zhiyuan Shan, Wenyan Li, Mohammad Reza Hekmat, Masoud Garshasbi, Javier Suela, Yaima Torres, Juan C. Cigudosa, F. J. Pérez Ruiz, Laura Rodríguez, Mónica García, Janez Bernik, Eva Traven, Uršula Reš, Nataša Tul, Ching-Fong Tseng, Depeng Zhao, Luming Sun, Qiong Pan, Li Shen, Mengyao Dai, Yuying Wang, Jian Wang, Huanming Yang, Ye Yin, Tao Duan, Baosheng Zhu, Mahesh Choolani, Xin Jin, Yingwei Chen, Mao Mao
ABSTRACTPurposeMultiple chromosomal aneuploidies may be associated with maternal malignancies and can cause failure of noninvasive prenatal screening (NIPS) tests. However, multiple chromosomal aneuploidies show poor specificity and selectivity for diagnosing maternal malignancies.MethodsThis multicenter retrospective analysis evaluated 639 pregnant women who tested positive for multiple chromosomal aneuploidies on initial NIPS test between January 2016 and December 2017. Women were assessed using genome profiling of copy-number variations, which was translated to cancer risk using a novel bioinformatics algorithm called the cancer detection pipeline (CDP). Sensitivity, specificity, and positive predictive value (PPV) of diagnosing maternal malignancies were compared for multiple chromosomal aneuploidies, the CDP model, and the combination of CDP and plasma tumor markers.ResultsOf the 639 subjects, 41 maternal malignant cancer cases were diagnosed. Multiple chromosomal aneuploidies predicted maternal malignancies with a PPV of 7.6%. Application of the CDP algorithm to women with multiple chromosomal aneuploidies allowed 34 of the 41 (83%) cancer cases to be identified, while excluding 422 of 501 (84.2%) of the false positive cases. Combining the CDP with plasma tumor marker testing gave PPV of 75.0%.ConclusionThe CDP algorithm can diagnose occult maternal malignancies with a reasonable PPV in multiple chromosomal aneuploidies–positive pregnant women in NIPS tests. This performance can be further improved by incorporating findings for plasma tumor markers. More... »
PAGES2293-2302
http://scigraph.springernature.com/pub.10.1038/s41436-019-0510-5
DOIhttp://dx.doi.org/10.1038/s41436-019-0510-5
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1113378376
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30976098
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