Table 1.
Prenatal cell-free DNA screening (cfDNA) + Sex Chromosome Aneuploidy (SCA) outcomes in eXtraordinarY Babies Study vs. Regional Clinical Cytogenetics Laboratory.
| cfDNA vs. Cyto | eXtraordinarY Babies Study (Total = 209) |
Regional Clinical Cytogenetic Lab (Total = 84) |
|---|---|---|
| (cfDNA result; Karyotype) | n (%) | n (%) |
| True Positive | 188 (90.0) | 46 (54.8) |
| Atypical/XXY | 115 (61.2) | 21 (45.7) |
| Atypical/XXX | 41 (21.8) | 15 (17.6) |
| Atypical/XYY | 32 (17.0) | 10 (11.8) |
| False Positive | n/a | 31 (36.9) |
| Atypical; 46,XX | - | 9 (29.0) |
| XXX; 46,XX | - | 7 (22.6) |
| Atypical; 46,XY | - | 6 (19.4) |
| XXY; 46,XY | - | 5 (16.1) |
| Y by cfDNA; 46,XX | - | 3 (9.7) |
| Monosomy X; 46,XX | - | 1 (3.2) |
| Discordant Abnl cfDNA & Abnl Cyto | 21 (10.0) | 7 (8.3) |
| Trisomy; Tetrasomy | 14 (66.7) | 1 (14.3) |
| SCA Trisomy/Atypical; Mosaic | 2 (9.5) | 4 (57.1) |
| SCA Trisomy; Translocation (X;Y) | - | 2 (28.6) |
| Monosomy; trisomy | 2 (9.5) | - |
| Autosomal Trisomy; SCA Trisomy | 2 (9.5) | - |
| SCA Trisomy; Other SCA Trisomy | 1 (4.8) | - |