IMR Press / CEOG / Volume 45 / Issue 2 / DOI: 10.12891/ceog3938.2018

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Original Research
Non-invasive prenatal detection for copy number variation
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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
Clin. Exp. Obstet. Gynecol. 2018, 45(2), 190–193;
Published: 10 April 2018

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.
noninvasive prenatal testing
copy number variation
cell-free fetal DNA
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