Table 1.
The capture efficiency and related parameters of cell-based prenatal diagnosis by Cell Reveal™ platform with PicoBioChips for 5 pregnant women with an aneuploid or euploid fetus in the verification group
| Case no. | Maternal age | Gestational age | Fetal karyotype | Type of fetal cell captured | Captured efficiencya
Average (2 ml/2 ml) |
FISHb | WGAc | cfDNA testingd |
|---|---|---|---|---|---|---|---|---|
| 1 | 36 | 11+6e | 47,XX,+13 | fnRBC EVT |
11 (10/12) 1 (1/1) |
10 1 |
11 (+) 1 (−) |
High risk for T13: GWNS: p < 0.001 Z score: Z = 8.74 |
| 2 | 34 | 18+6 | 47,XX,+18 | fnRBC EVT |
7 (3/11) 22 (11/33) |
3 11 |
11 (+) 15 (+) |
High risk for T18: GWNS: p = 0.003 Z score: Z = 4.29 |
| 3 | 37 | 21 | 47,XX,+21 | fnRBC EVT |
11 (2/20) 3.5 (3/4) |
2 3 |
15 (+) 4 (+) |
High risk for T21: GWNS: p = 0.003 Z score: Z = 3.91 |
| 4 | 30 | 13+3 | 46,XY | fnRBC EVT |
9 (8/10) 1 (1/1) |
8 1 |
6 (+) 2 (−) |
Low risk for T13, 18, 21 |
| 5 | 34 | 11+4 | 46,XX | fnRBC EVT |
9 (8/10) 0.5 (0/1) |
8 NP |
9 (+) 1 (−) |
Low risk for T13, 18, 21 |
FISH fluorescence in situ hybridization, fnRBC fetal nucleated red blood cells, GWNS genome wide normalized score, NP Not be performed, WGA whole genome amplification
aNumber of cell captured per 2 ml of maternal blood per PicoBioChip: mean of (chip1/chip2)
bNumber of cells analyzed
cNumber of cells pooled for DNA amplification. “+” and “-” indicated the successful amplification and unsuccessful amplification, respectively
dCut-off values of high risk: p < 0.05 by GWNS algorithm and z < −3 or >3 by Z score algorithm [14]
e11+6 denotes 11 weeks and 6 days. cfDNA: cell-free DNA; EVT: extravillous cytotrophoblasts