Taiwanese Journal of Obstetrics & Gynecology (2018-12-01)

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

Journal volume & issue
Vol. 57, no. 6
pp. 871 – 877


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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