Single Molecule Sequencing of Cell-free DNA from Maternal Plasma for Noninvasive Trisomy Detection

Abstract

The demand of non-invasive prenatal testing for autosomal aneuploidy using cell-free fetal DNA (cffDNA) in maternal plasma is a highly sought-after diagnostic, with a rapidly growing market. Current approaches developed by next generation sequencing (NGS) need PCR amplifcation during sample preparation, which results in amplification bias in GC-rich areas of the human genome. With these approaches, the minimum fetal fraction in maternal plasma is 4% for the small differences in circulating cfDNA between trisomic and disomic

Two Color Single Molecule Sequencing on GenoCare™ 1600 Platform to Facilitate Clinical Applications

“…Based on single molecule SBS technique, GenoCare™ 1600 sequencer is designed and developed for clinical applications. With simple library preparation, minimum facility requirement, and high sensitivity, GenoCare™ 1600 shows good performance in reproductive health field, such as NIPT, PGT and chromosome analysis of the miscarriage tissue [25, 26]. For many NGS-based clinical tests inside hospital, high cost per run, long hands-on operation time and complicated procedure would severely hinder adoption; while GenoCare™ 1600 offers improvements in all above aspects.…”