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

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 efficiency^a Average (2 ml/2 ml)	FISH^b	WGA^c	cfDNA testing^d
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

ISSN: 1755-8166