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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

From: Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics

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
  1. FISH fluorescence in situ hybridization, fnRBC fetal nucleated red blood cells, GWNS genome wide normalized score, NP Not be performed, WGA whole genome amplification
  2. aNumber of cell captured per 2 ml of maternal blood per PicoBioChip: mean of (chip1/chip2)
  3. bNumber of cells analyzed
  4. cNumber of cells pooled for DNA amplification. “+” and “-” indicated the successful amplification and unsuccessful amplification, respectively
  5. dCut-off values of high risk: p < 0.05 by GWNS algorithm and z < −3 or >3 by Z score algorithm [14]
  6. e11+6 denotes 11 weeks and 6 days. cfDNA: cell-free DNA; EVT: extravillous cytotrophoblasts