Abstract
Noninvasive prenatal test (NIPT) has been widely used as a screening test for trisomy 13, 18 and 21 worldwide. Recently, coexistence of maternal malignancy and pregnancy has drawn increasing attention in NIPT studies. Malignancy in pregnant women potentially affected NIPT results, which may cause false positive results or failed tests. However, no such case has ever been reported in Asian population. In this study, for the first time, we reported a stage III dysgerminoma and advanced gastric cancer during pregnancy accidentally identified during NIPT tests. These two women showed aberrant chromosome aneuploidies in NIPT results and concordant pattern of genome disruption found in tumor samples. The findings in this study further validate the effect of maternal malignancy on NIPT results and strengthen the possibility of detecting malignant tumors through NIPT in the future.
Footnotes
↵# These authors are corresponding authors.
Pi-Lin Sung, 1. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan, 2. Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan and School of Medicine, National Yang-Ming University, Taipei, Taiwan, Fax: +886-22-77232788 Tel: +886-2-28712121#7826 Email: plsung{at}vghtpe.gov.tw
Xin Jin, 1. School of Medicine, South China University of Technology, Guangzhou, China, 2. BGI-Shenzhen, Shenzhen, 518083, China, Email: jinxin{at}genomics.cn
Shen Li, Department of Pathology, Shanghai Pu Nan Hospital, Shanghai, China. Email: 13585700401{at}139.com