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Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

Roy B. Lefkowitz, PhD; John A. Tynan, PhD; Tong Liu, PhD; Yijin Wu, PhD; Amin R. Mazloom, PhD; Eyad Almasri, MS; Grant Hogg, MS; Vach Angkachatchai, PhD; Chen Zhao, PhD; Daniel S. Grosu, MD; Graham McLennan, MS; Mathias Ehrich, MD

Current cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal chromosomal abnormalities are not detectable by current noninvasive methods. Here we report the clinical validation of a novel noninvasive prenatal test (NIPT) designed to detect genomewide gains and losses of chromosomal material >7 Mb and losses associated with specific deletions

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