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

doi:10.1016/j.tjog.2018.10.032

Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review

Taiwan J Obstet Gynecol. 2018 Dec;57(6):871-877. doi: 10.1016/j.tjog.2018.10.032.

Authors

Xing Ji¹, Fang Chen², Yafeng Zhou², Jia Li², Yuying Yuan², Yu Mo², Qiang Liu², Jen-Yu Tseng³, Diego Shih-Chieh Lin⁴, Shu-Huei Shen⁵, Yu Liu¹, Weiping Ye⁶, Yuen Nei Cheung⁷, Ka Yiu Yuen⁷, Siyuan Lin⁷, Meili Fu², Hongyun Zhang², Na Liu², Jian Wang⁸, Huanming Yang⁸, Yuying Wang², Shen Li⁹, Shushu Fan¹⁰, Xin Jin¹¹, Mao Mao¹², Pi-Lin Sung¹³

Affiliations

¹ 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.
² BGI-Shenzhen, Shenzhen, Guangdong, China.
³ 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.
⁴ 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.
⁵ Department of Obstetrics and Gynecology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan.
⁶ Department of Obstetrics, Xin Hua Hospital Affiliated with Shanghai Jiaotong University, School of Medicine, Shanghai, China.
⁷ BGI Health Company Limited, Hong Kong SAR, China.
⁸ BGI-Shenzhen, Shenzhen, Guangdong, China; James D. Watson Institute of Genome Sciences, Hangzhou 310058, China.
⁹ Department of Pathology, Shanghai Punan Hospital, Shanghai, China. Electronic address: 13585700401@139.com.
¹⁰ The Genetic Diagnosis Center and Reproductive Center, Yue Bei People's Hospital, Shao Guan, Guangdong, China. Electronic address: shaoguanfss@aliyun.com.
¹¹ BGI-Shenzhen, Shenzhen, Guangdong, China; School of Medicine, South China University of Technology, Guangzhou, China. Electronic address: jinxin@genomics.cn.
¹² BGI-Shenzhen, Shenzhen, Guangdong, China. Electronic address: maomao@genomics.cn.
¹³ 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. Electronic address: plsung@vghtpe.gov.tw.

PMID: 30545544
DOI: 10.1016/j.tjog.2018.10.032

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: Copy number variation (CNV) profile; Massively parallel sequencing; Maternal malignancy; Multiple aneuploidies; Noninvasive prenatal testing (NIPT).

Publication types

Case Reports
Review

MeSH terms

Adult
Carcinoma, Squamous Cell / diagnosis
Carcinoma, Squamous Cell / genetics
Carcinoma, Squamous Cell / pathology
Cell-Free Nucleic Acids*
DNA Copy Number Variations*
Dysgerminoma / diagnosis
Dysgerminoma / genetics
Dysgerminoma / pathology
Female
Genetic Testing / methods*
Humans
Magnetic Resonance Imaging
Ovarian Neoplasms / diagnosis
Ovarian Neoplasms / genetics
Ovarian Neoplasms / pathology
Pregnancy
Pregnancy Complications, Neoplastic / diagnosis
Pregnancy Complications, Neoplastic / genetics*
Pregnancy Complications, Neoplastic / pathology
Prenatal Diagnosis / methods
Stomach Neoplasms / diagnosis
Stomach Neoplasms / genetics
Stomach Neoplasms / pathology
Uterine Cervical Neoplasms / diagnosis
Uterine Cervical Neoplasms / genetics
Uterine Cervical Neoplasms / pathology

Substances

Cell-Free Nucleic Acids