Table 2. Parental Aneuploidy & Corresponding Fetal NIPT Outcomes.
| Total (N) | Prevalence & Incidence | Corresponding NIPT1 Outcomes | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Observed Incidence, 1 in: | Observed Prevalence per 100,000 | Expected Prevalence per 100,0002 | Fertility Estimate (Observed/Expected) | High-risk Result | Low-risk Result | No result, LFF3 | No-result, Monosomy X | No-result, Unmatching Maternal Alleles | ||
| Maternal Aneuploidy | ||||||||||
| 45,X or 45,X/46,XX | 43 | 3,300 | 30.3 | 29.3 | 103% | 1 | 20 | 0 | 21 | 1 |
| 47,XXX or 46,XX/47,XXX | 30 | 4,731 | 21.1 | 105.6 | 20% | 0 | 14 | 3 | 13 | 0 |
| 48,XXXX | 2 | 70,958 | - | - | - | 0 | 1 | 0 | 1 | 0 |
| Mosaic4 | 23 | 6,170 | - | - | - | 0 | 12 | 2 | 8 | 1 |
| 46,XX UPD | 3 | 47,305 | - | - | - | 0 | 1 | 0 | 2 | 0 |
| 46,XY | 2 | 70,958 | - | - | - | 0 | 0 | 0 | 2 | 0 |
| Total | 103 | 1,378 | - | - | - | 1 | 48 | 5 | 47 | 2 |
| Paternal Aneuploidy | ||||||||||
| 47,XXY or 46,XY/47,XXY | 2 | 14,668 | 6.8 | 156.7 | 4% | 0 | 2 | 0 | 0 | - |
| 47,XYY or 46,XY/47,XYY | 10 | 2,934 | 34.1 | 117.5 | 29% | 1 | 9 | 0 | 0 | - |
| Partial Y Deletion | 4 | 7,334 | - | - | - | 0 | 2 | 0 | 2 | - |
| Total | 16 | 1,834 | - | - | - | 1 | 13 | 0 | 2 | - |
1NIPT: Non-invasive Prenatal Testing
2Expected prevalence from Nielsen and Wohlert (1991); 34,910 newborns
3LFF: low fetal fraction
4Mosaics of unknown origin.