Table 1. Summary of all samples with a Z-score > 3 for chromosomes 13, 18 or 21 in 209 samples on which NIPT was performed.
Sample | First trimester combined test risk for Trisomy 21 | Coefficient of variation #21 | Z-score #21 | Posterior Risk (%) | Confirmation by karyotyping in amniotic fluid |
---|---|---|---|---|---|
1 | 1/4 | 0.40 | 13.7 | 99.9 | 47#, +21 |
2 | 1/2 | 0.29 | 27.2 | 99.9 | 47#, +21 |
3 | 1/79 | 0.31 | 12.4 | 99.9 | 47#, +21 |
4 | 1/118 | 0.40 | 11.6 | 99.9 | 47#, +21 |
5 | 1/141 | 0.33 | 14.4 | 99.9 | 47#, +21 |
6 | 1/119 | 0.47 | 11.9 | 99.9 | 47#, +21 |
7 | 1/13 | 0.32 | 19.7 | 99.9 | 47#, +21 |
8 | 1/20 | 0.36 | 16.9 | 99.9 | 47#, +21 |
9 | 1/115 | 0.29 | 26.2 | 99.9 | 47#, +21 |
10 | 1/25 | 0.33 | 28.8 | 99.0 | 47#, +21 |
11 | 1/43 | 0.33 | 4.9 | 40.0 | Mos 46#/47#, +21 also seen in chorionic villi |
12 | 1/147 | 0.34 | 4.4 | 36.0 | 46#, no T21 |
13 | 1/80 | 0.32 | 4.2 | 33.0 | 46#, no T21 |
*14 | #13 1:5000 | #13 0.18 | #13 4.4 | 4.0 | No confirmation done, healthy baby born |
*A Z-score of 4.4 for chromosome 13 was detected, while the a priori risk for trisomy 21 was 1/121; no elevated risk was found for trisomy 13 after the first trimester combined test.