Clinics in Mother and Child Health

Dr, Department of Medicine and Surgery, Centre of Perinatal and Reproductive Medicine, University of Perugia, Italy

Publications

• 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»
  

  DOI: 10.35248/2090-7214.21.18.389

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