Taiwanese Journal of Obstetrics & Gynecology (Dec 2018)
Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review
- Xing Ji,
- Fang Chen,
- Yafeng Zhou,
- Jia Li,
- Yuying Yuan,
- Yu Mo,
- Qiang Liu,
- Jen-Yu Tseng,
- Diego Shih-Chieh Lin,
- Shu-Huei Shen,
- Yu Liu,
- Weiping Ye,
- Yuen Nei Cheung,
- Ka Yiu Yuen,
- Siyuan Lin,
- Meili Fu,
- Hongyun Zhang,
- Na Liu,
- Jian Wang,
- Huanming Yang,
- Yuying Wang,
- Shen Li,
- Shushu Fan,
- Xin Jin,
- Mao Mao,
- Pi-Lin Sung
Affiliations
- Xing Ji
- Department of Prenatal Diagnosis, Xin Hua Hospital Affiliated to Shanghai Jiaotong University, School of Medicine, Shanghai, China; Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China
- Fang Chen
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Yafeng Zhou
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Jia Li
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Yuying Yuan
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Yu Mo
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Qiang Liu
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Jen-Yu Tseng
- Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, National Yang-Ming University School of Medicine, Taipei, Taiwan
- Diego Shih-Chieh Lin
- Department of Obstetrics and Gynecology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
- Shu-Huei Shen
- Department of Obstetrics and Gynecology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan
- Yu Liu
- Department of Prenatal Diagnosis, Xin Hua Hospital Affiliated to Shanghai Jiaotong University, School of Medicine, Shanghai, China; Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China
- Weiping Ye
- Department of Obstetrics, Xin Hua Hospital Affiliated with Shanghai Jiaotong University, School of Medicine, Shanghai, China
- Yuen Nei Cheung
- BGI Health Company Limited, Hong Kong SAR, China
- Ka Yiu Yuen
- BGI Health Company Limited, Hong Kong SAR, China
- Siyuan Lin
- BGI Health Company Limited, Hong Kong SAR, China
- Meili Fu
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Hongyun Zhang
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Na Liu
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Jian Wang
- BGI-Shenzhen, Shenzhen, Guangdong, China; James D. Watson Institute of Genome Sciences, Hangzhou 310058, China
- Huanming Yang
- BGI-Shenzhen, Shenzhen, Guangdong, China; James D. Watson Institute of Genome Sciences, Hangzhou 310058, China
- Yuying Wang
- BGI-Shenzhen, Shenzhen, Guangdong, China
- Shen Li
- Department of Pathology, Shanghai Punan Hospital, Shanghai, China; Corresponding author. Department of Pathology, Shanghai Pu Nan Hospital, Shanghai, China.
- Shushu Fan
- The Genetic Diagnosis Center and Reproductive Center, Yue Bei People's Hospital, Shao Guan, Guangdong, China; Corresponding author. The Genetic Diagnosis Center and Reproductive Center, Yue Bei People's Hospital, Shao Guan, Guangdong Province, China.
- Xin Jin
- BGI-Shenzhen, Shenzhen, Guangdong, China; School of Medicine, South China University of Technology, Guangzhou, China; Corresponding author. School of Medicine, South China University of Technology, BGI-Shenzhen, Shenzhen, Guangzhou, 518083, China.
- Mao Mao
- BGI-Shenzhen, Shenzhen, Guangdong, China; Corresponding author. BGI-Shenzhen, Shenzhen, 518083, China.
- Pi-Lin Sung
- Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Fax: +886 22 77232788.
- Journal volume & issue
-
Vol. 57,
no. 6
pp. 871 – 877
Abstract
Objective: The coexistence of maternal malignancy and pregnancy has received increasing attention in Noninvasive prenatal testing (NIPT) studies. Malignancy in pregnant women potentially affects the copy number variation (CNV) profile in NIPT results. Only one case of hematologic cancer has been reported in a Hong-Kong pregnant women, and solid tumors have never been reported in pregnant Chinese women. Case report: The patients with dysgerminoma and cervical cancer showed aberrant chromosomal aneuploidies in NIPT and concordant patterns of genome disruption in tumor tissues. The genomic aberrations in the gastric cancer patient had similar copy number variation pattern of gastric cancer. Conclusion: The findings in this study and the literature review further validate the effect of maternal malignancy on the copy number variation profile in NIPT data and strengthen the possibility of detecting malignant tumors with NIPT in the future. Keywords: Noninvasive prenatal testing (NIPT), Copy number variation (CNV) profile, Massively parallel sequencing, Maternal malignancy, Multiple aneuploidies
