Table 1 Six listed discordant NIPT results (case numbers 1–6) among the nine confirmed abnormal NIPT results (case numbers 7–15)
Case number | NIPT | Karyotype | Phenotype |
|---|---|---|---|
1 | 2 × 21,13,18, X MaterniT21 Specificity: 99.6% [CI 99.2–99.6% for chromosome 18] | Amniocentesis 47,XX, +18 | Affected newborn Expired postpartum |
2 | Trisomy 18 [9W3D] MaterniT21 Sensitivity: >99% Repeat normal [22W] | Term Placenta: 46,XY | Normal newborn: |
3 | Trisomy 21 >99% harmony | Amniocentesis: 46,XY[18]/Fish[50] | Normal newborn Blood: 46,XY |
4 | Trisomy 21 validated at 100% | Amniocentesis: 46,XY[28] | Placenta: 47,XY, +21[18]/46,XY[2] Newborn Blood: 46,XY |
5 | Monosomy X Ariosa 99% | Newborn blood: 45,X[1]/46,X,dup(X)(q13q21.3)[49] | |
6 | Trisomy 21 | Amniocentesis: 47,XY,t(5;9)(p15;q12)+21 | |
Microarray: trisomy 21 | |||
Balanced t(5;9) not detected | |||
7–11 | Trisomy 18 | 47,X_, +18 | |
12–15 | Trisomy 21 | 47,X_, +12 |