Department of Obstetrics and Gynecology, The Affiliated Wuxi Maternity and Child Health Care Hospital of Nanjing Medical University, China
Dr. Giuliana Coata is a researcher in the Department of Medicine and Surgery, Centre of Perinatal and Reproductive Medicine, University of Perugia, Italy. The author has overseen multiple clinical research projects in the field of Mother and Child Development, Reproductive Medicine, etc.,
Special Issue
Non-Invasive Prenatal Testing of Fetal Aneuploidies using a New Method Based on Digital Droplet PCR and Cell Free Fetal DNA
Author(s): Wang Haidong, Yang Zhijie, Wang Youxiang, Gian Carlo Di Renzo*, Elena Picchiassi, Federica Tarquini, Giuliana Coata, Wang You and Chen Yu
Background: Current next generation sequencing (NGS) and microarray based Non-Invasive Prenatal Tests (NIPT),
used for the detection of common fetal trisomies, are still expensive, time consuming and need to be performed in
centralized laboratories. To improve NIPT in clinical routine practice as universal prenatal screening, we have developed
a digital droplet PCR (ddPCR) based assay called iSAFE NIPT using cell free fetal DNA (cffDNA) for detection of fetal
trisomies 13, 18 and 21 in a single reaction with advantage of high diagnostic accuracy and reduced cost.
Materials and methods: We first used artificial DNA samples to evaluate analytical sensitivity and specificity of the
iSAFE NIPT. Next, we analyzed 269 plasma samples for the clinical validation of iSAFE NIPT. Fifty-eight of these,
including five trisomies 21, two tr.. View more»