Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Ji Xing, Li Jia, Huang Yonghua, Sung Pi-Lin, Yuan Yuying, Liu Qiang, Chen Yan, Ju Jia, Zhou Yafeng, Huang Shujia, Chen Fang, Han Yuan, Yuan Wen, Fan Cheng, Zhao Qiang, Wu Haitao, Feng Suihua, Liu Weiqiang, Li Zhihua, Chen Jingsi, Chen Min, Yao Hong, Zeng Li, Ma Tao, Fan Shushu, Zhang Jinman, Yuen Ka Yiu, Cheng So Hin, Chik Irene Wing Shan, Liu Nien-Tzu, Zhu Jianyu, Lin Siyuan, Cao Jeremy, Tong Steve, Shan Zhiyuan, Li Wenyan, Hekmat Mohammad Reza, Garshasbi Masoud, Suela Javier, Torres Yaima, Cigudosa Juan C, Ruiz F J Pérez, Rodríguez Laura, García Mónica, Bernik Janez, Traven Eva, Reš Uršula, Tul Nataša, Tseng Ching-Fong, Zhao Depeng, Sun Luming, Pan Qiong, Shen Li, Dai Mengyao, Wang Yuying, Wang Jian, Yang Huanming, Yin Ye, Duan Tao, Zhu Baosheng, Choolani Mahesh, Jin Xin, Chen Yingwei, Mao Mao
Аннотация
METHODS: This 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.
RESULTS: Of 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%.
CONCLUSION: The 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.