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 imrpress.com as a courtesy and upon agreement with S.O.G.
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.