Abstract
Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions.
Our NIPT validation in high risk pts for DS, T18, T13, SCAs, and fetal sex • Overall, there were 137 pregnancies with trisomy 21, 39 with trisomy 18, and 16 with trisomy 13. • Trisomy 21: sensitivity was 100%, specificity >99%, False positive rate 0.1%, PPV of 97.9%. • 3 false negatives T18 and 2 false negatives T13 • No false positive te
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.
