Table 1. List of 64 samples that passed quality control, with gestational age, fetal fraction, NATUS-generated copy number result, calculated accuracy, and confirmed karyotype.
| GA (weeks) | Fetal Fraction (%) | NATUS-calledKaryotype | AverageConfidencea | Confirmed Karyotypeb |
| 12.1 | 11.4 | 46,XX | 1.00 | 46,XX |
| 12.1 | 10.3 | 46,XX | 1.00 | 46,XX |
| 12.7 | 14.9 | 46,XX | 1.00 | 46,XX |
| 12.7 | 6.7 | 46,XX | 1.00 | 46,XX |
| 12.7 | 8.7 | 46,XX | 1.00 | 46,XX |
| 15.6 | 15.2 | 46,XX | 1.00 | 46,XX |
| 15.6 | 12.7 | 46,XX | 1.00 | 46,XX |
| 18.0 | 8.3 | 46,XX | 1.00 | 46,XX |
| 16.0 | 12.5 | 46,XX | 1.00 | 46,XX |
| 16.0 | 10.4 | 46,XX | 1.00 | 46,XX |
| 16.0 | 15.5 | 46,XX | 1.00 | 46,XX |
| 15.9 | 15.2 | 46,XX | 1.00 | 46,XX |
| 18.1 | 13.8 | 46,XX | 1.00 | 46,XX |
| 18.9 | 9.7 | 46,XX | 1.00 | 46,XX |
| 13.1 | 11.7 | 46,XX | 1.00 | 46,XX |
| 13.1 | 5.9 | 46,XX | 1.00 | 46,XX |
| 12.4 | 6.4 | 46,XX | 1.00 | 46,XX |
| 16.4 | 7.1 | 46,XX | 1.00 | 46,XX |
| 16.4 | 28.1 | 46,XX | 1.00 | 46,XX |
| 21.1 | 7.6 | 46,XX | 1.00 | 46,XX |
| 23.1 | 21.9 | 46,XX | 1.00 | 46,XX |
| 12.1 | 10.8 | 46,XY | 1.00 | 46,XY |
| 12.7 | 13.2 | 46,XY | 1.00 | 46,XY |
| 12.7 | 9.9 | 46,XY | 1.00 | 46,XY |
| 13.6 | 12.2 | 46,XY | 1.00 | 46,XY |
| 13.6 | 16.6 | 46,XY | 1.00 | 46,XY |
| 13.6 | 14.0 | 46,XY | 1.00 | 46,XY |
| 13.6 | 8.7 | 46,XY | 1.00 | 46,XY |
| 15.6 | 9.9 | 46,XY | 1.00 | 46,XY |
| 18.0 | 13.9 | 46,XY | 1.00 | 46,XY |
| 18.0 | 6.4 | 46,XY | 1.00 | 46,XY |
| 18.1 | 10.5 | 46,XY | 1.00 | 46,XY |
| 15.9 | 14.1 | 46,XY | 1.00 | 46,XY |
| 15.9 | 13.4 | 46,XY | 1.00 | 46,XY |
| 18.9 | 30.4 | 46,XY | 1.00 | 46,XY |
| 18.9 | 14.9 | 46,XY | 1.00 | 46,XY |
| 21.4 | 14.0 | 46,XY | 1.00 | 46,XY |
| 21.4 | 17.8 | 46,XY | 1.00 | 46,XY |
| 21.9 | 23.5 | 46,XY | 1.00 | 46,XY |
| 21.1 | 12.0 | 46,XY | 1.00 | 46,XY |
| 21.1 | 16.7 | 46,XY | 1.00 | 46,XY |
| 21.1 | 7.8 | 46,XY | 1.00 | 46,XY |
| 22.6 | 10.8 | 46,XY | 1.00 | 46,XY |
| 22.4 | 17.0 | 46,XY | 1.00 | 46,XY |
| 22.7 | 9.7 | 46,XY | 1.00 | 46,XY |
| 13.1 | 15.3 | 46,XY | 1.00 | 46,XY |
| 12.4 | 9.9 | 46,XY | 1.00 | 46,XY |
| 12.4 | 9.0 | 46,XY | 1.00 | 46,XY |
| 16.4 | 18.9 | 46,XY | 1.00 | 46,XY |
| 18.0 | 24.7 | 47,XX,+13 | 1.00 | 47,XX,+13 |
| 15.9 | 12.0 | 47,XX,+13 | 1.00 | 47,XX,+13 |
| 21.6 | 19.2 | 47,XX,+13 | 1.00 | 47,XX,+13 |
| 13.1 | 4.3 | 47,XX,+13 | 0.92 | 47,XX,+13 |
| 13.6 | 5.5 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 15.6 | 8.5 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 16.0 | 7.1 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 18.9 | 7.7 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 22.6 | 10.8 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 21.6 | 11.6 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 18.1 | 14.2 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 22.0 | 30.0 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 12.1 | 9.1 | 47,XY,+13 | 1.00 | 47,XY,+13 |
| 12.7 | 7.5 | 47,XY,+13 | 1.00 | Trisomy 13, no sex chromosome anomaliesb |
| 12.4 | 6.7 | 47,XY,+13 | 1.00 | Trisomy 13, no sex chromosome anomaliesb |
For each trisomy 13 case, three confirmed euploid control cases with matching gestational ages (within five days) were blindly selected from a large collection of control cases.
b
Karyotype was confirmed by standard invasive diagnostic testing or genetic testing of the cord blood, buccal, saliva, or products of conception. For two samples, confirmed fetal sex chromosome copy number was reported (from a larger, externally blinded cohort) as presence or absence of sex chromosome anomalies (instead of as “XX” or “XY”); NATUS-called karyotypes were identified as correct upon unblinding.