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

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

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

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.

Original language	English
Pages (from-to)	871-877
Number of pages	7
Journal	Taiwanese Journal of Obstetrics and Gynecology
Volume	57
Issue number	6
DOIs	https://doi.org/10.1016/j.tjog.2018.10.032
State	Published - Dec 2018
Externally published	Yes

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.tjog.2018.10.032

Cite this

Ji, X., Chen, F., Zhou, Y., Li, J., Yuan, Y., Mo, Y., Liu, Q., Tseng, J. Y., Shih-Chieh Lin, D., Shen, S. H., Liu, Y., Ye, W., Cheung, Y. N., Yuen, K. Y., Lin, S., Fu, M., Zhang, H., Liu, N., Wang, J., ... Sung, P. L. (2018). Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review. Taiwanese Journal of Obstetrics and Gynecology, 57(6), 871-877. https://doi.org/10.1016/j.tjog.2018.10.032

@article{fe24e19666a64489ac515ab35a158c3a,

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

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)",

author = "Xing Ji and Fang Chen and Yafeng Zhou and Jia Li and Yuying Yuan and Yu Mo and Qiang Liu and Tseng, \{Jen Yu\} and \{Shih-Chieh Lin\}, Diego and Shen, \{Shu Huei\} and Yu Liu and Weiping Ye and Cheung, \{Yuen Nei\} and Yuen, \{Ka Yiu\} and Siyuan Lin and Meili Fu and Hongyun Zhang and Na Liu and Jian Wang and Huanming Yang and Yuying Wang and Shen Li and Shushu Fan and Xin Jin and Mao Mao and Sung, \{Pi Lin\}",

note = "Publisher Copyright: {\textcopyright} 2018",

year = "2018",

month = dec,

doi = "10.1016/j.tjog.2018.10.032",

language = "英语",

volume = "57",

pages = "871--877",

journal = "Taiwanese Journal of Obstetrics and Gynecology",

issn = "1028-4559",

publisher = "Elsevier Ltd",

number = "6",

}

Ji, X, Chen, F, Zhou, Y, Li, J, Yuan, Y, Mo, Y, Liu, Q, Tseng, JY, Shih-Chieh Lin, D, Shen, SH, Liu, Y, Ye, W, Cheung, YN, Yuen, KY, Lin, S, Fu, M, Zhang, H, Liu, N, Wang, J, Yang, H, Wang, Y, Li, S, Fan, S, Jin, X, Mao, M & Sung, PL 2018, 'Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review', Taiwanese Journal of Obstetrics and Gynecology, vol. 57, no. 6, pp. 871-877. https://doi.org/10.1016/j.tjog.2018.10.032

TY - JOUR

T1 - Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies

T2 - Case reports and a literature review

AU - Ji, Xing

AU - Chen, Fang

AU - Zhou, Yafeng

AU - Li, Jia

AU - Yuan, Yuying

AU - Mo, Yu

AU - Liu, Qiang

AU - Tseng, Jen Yu

AU - Shih-Chieh Lin, Diego

AU - Shen, Shu Huei

AU - Liu, Yu

AU - Ye, Weiping

AU - Cheung, Yuen Nei

AU - Yuen, Ka Yiu

AU - Lin, Siyuan

AU - Fu, Meili

AU - Zhang, Hongyun

AU - Liu, Na

AU - Wang, Jian

AU - Yang, Huanming

AU - Wang, Yuying

AU - Li, Shen

AU - Fan, Shushu

AU - Jin, Xin

AU - Mao, Mao

AU - Sung, Pi Lin

PY - 2018/12

Y1 - 2018/12

N2 - 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.

AB - 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.

KW - Copy number variation (CNV) profile

KW - Massively parallel sequencing

KW - Maternal malignancy

KW - Multiple aneuploidies

KW - Noninvasive prenatal testing (NIPT)

UR - https://www.scopus.com/pages/publications/85056737753

U2 - 10.1016/j.tjog.2018.10.032

DO - 10.1016/j.tjog.2018.10.032

M3 - 文章

C2 - 30545544

AN - SCOPUS:85056737753

SN - 1028-4559

VL - 57

SP - 871

EP - 877

JO - Taiwanese Journal of Obstetrics and Gynecology

JF - Taiwanese Journal of Obstetrics and Gynecology

IS - 6

ER -

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

Abstract

Keywords

UN SDGs

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