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Table 1 Six listed discordant NIPT results (case numbers 1–6) among the nine confirmed abnormal NIPT results (case numbers 7–15)

From: Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes

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