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Clinical and Experimental Obstetrics & Gynecology  2018, Vol. 45 Issue (2): 190-193    DOI: 10.12891/ceog3938.2018
Original Research Previous articles | Next articles
Non-invasive prenatal detection for copy number variation
Y.H. Liu1, *(), L. Gao2, Y. He1, W.W. Xie3, F. Xiong4, 5, H.J. Jiang3, 6, F. Chen3, J.H. Qu3, H.H. Huang3, W.F. Xu1, Y.Y. Lin1, R.G. Xie1, J.W. Lou1, H. Jiang3
1 Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, China
2 Department of clinical Laboratory, Henan Province People's Hospital, Zhengzhou, China
3 BGI-Shenzhen, Shenzhen, China
4 Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
5 Key laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou Medical University, Guangzhou, China
6 School of Biological Science and Medical Engineering, Southeast University, Nanjing, China
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Aim: To assess the technology of non-invasive prenatal testing (NIPT) and the robust mathematical model fetal copy-number analysis through maternal plasma sequencing (FCAPS) detecting large fetal deletions or duplications. Materials and Methods: Peripheral venous blood were taken from three pregnant women with high risk, and maternal plasma DNA were extracted and detected by NIPT and FCAPS. The results were validated through Array-CGH or karyotyping with amniotic fluid or umbilical cord blood obtained from the patients. Results: One out of three cases was positive by NIPT, but all were found with abnormalities by FCAPS. The results were further confirmed using array-CGH or karyotyping. Discussion: This study provides novel insights into noninvasive prenatal diagnosis using low-coverage maternal plasma sequencing to detect large fetal deletions or duplications, as well as correlations between fetal genotypes and phenotypes.
Key words:  noninvasive prenatal testing      copy number variation      cell-free fetal DNA     
Published:  10 April 2018     
*Corresponding Author(s):  YANHUI LIU     E-mail:

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Y.H. Liu, L. Gao, Y. He, W.W. Xie, F. Xiong, H.J. Jiang, F. Chen, J.H. Qu, H.H. Huang, W.F. Xu, Y.Y. Lin, R.G. Xie, J.W. Lou, H. Jiang. Non-invasive prenatal detection for copy number variation. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(2): 190-193.

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[1] Y.J. Wu, C.J. Yu, W.H. Tian, Z. Xu. Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(5): 789-791.
[2] Y. Qiu, C. Liu. Quantitative detection of cell-free fetal DNA in peripheral blood of pregnant women during early pregnancy[J]. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(4): 611-614.
[3] Yingjun Xie, Xiaofang Sun. Chromosomal microarray analysis in prenatal diagnosis[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(2): 177-179.
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