Whole genome sequencing based noninvasive prenatal test

Abstract

JGM NIFTY TM test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi ® test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as the targeted sequencing method (either chromosome selective or single nucleotide polymorphism based) and those that use differences in methylation patterns between maternal and fetal DNA, WGS-based NIPT has an advantage in scanning genome wide abnormalities. Therefore, WGS-based NIPT companies are putting significant effort into improving the accuracy of tests that detect clinically relevant