Table 1 the differences in detection coverage and thresholds between NIPT and NIPT plus.
Detection Content | NIPT (Basic Version) | NIPT plus (Upgraded Version) |
|---|---|---|
Common Chromosomal Aneuploidies | ||
Trisomy 21 (T21) | √ | √ |
Trisomy 18 (T18) | √ | √ |
Trisomy 13 (T13) | √ | √ |
Sex Chromosome Abnormalities (SCA) | × * | √ (Comprehensive coverage of sex chromosome aneuploidies) |
Rare Autosomal Trisomies (RAT) | × * | √ |
Microdeletion/Microduplication Syndromes (MMS) | × * | √ (Covers 116 types of microdeletion and microduplication syndromes) |
Sequencing Depth and Sensitivity | Standard sequencing depth; read length approx. 150 bp | Higher sequencing depth, read length approx. 120 bp; higher sensitivity |
High-Risk Threshold | Z-score > 3 for T13/T18/T21 | Z-score > 3 for T13/T18/T21; Z-score > 5 for SCA/MMS/RAT |
cfDNA concentration | > 5% | > 10% |
plugins | DaRuiCNV_ALPHA | |
