NIPT for Trisomy 21 Detection with NGS Technology
Explore how Non-Invasive Prenatal Testing (NIPT) using cell-free fetal DNA and Next-Generation Sequencing (NGS) measures chromosome 21 sequences to detect Trisomy 21, aiding in fetal and maternal health assessment. Learn about the NIPT workflow, Z-score calculation, unique chromosome 21 sequences, and differentiation between Euploids and Trisomy 21 cases based on research studies by Chiu R.W.K. and Lo et al.
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Presentation Transcript
NGS FOR NIPT cffDNA N T21 NIPT measures the ratio of chromosome 21 sequence versus control chromosome sequence to exclude trisomy 21 Fetal Maternal
NIPT WORKFLOW Chiu R W K et al. PNAS 2008;105:20458
NIPT WORKFLOW %chr21 = 1 / 50 = 2% Chiu R W K et al. PNAS 2008;105:20458
% unique sequences in chromosome 21 Z score calculation euploid test sample (2.11 2.01) 0.02 Z = 2.01 2.00 1.98 2.02 2.03 1.99 2.11 0.10 0.02 Z = mean 2.01 0.02 Z = 5 Z score ( SD)
Euploids Trisomy 21 cases Chiu R W K et al. PNAS 2008;105:20458
