Table 6.
The comparison of studies in prevalence of genetic variants identified in CHD fetuses by CMA
| Study | Platform | Number | Total chromosomal abnormalities | Aneuploidies | Partial Aneuploidies | pCNVs | lpCNVs | Vous |
|---|---|---|---|---|---|---|---|---|
| Song et al. 2018 [18] | Affymetrix Cytoscan 750 k array | 207 |
35 (16.9%) |
17 (8.2%) |
- |
13 (6.3%) |
5 (2.4%) |
14 (6.8%) |
| Luo et al. 2018 [19] | Illumina HumanCytoSNP-12 v2.1 BeadChip | 362 |
140 (38.7%) |
111 (30.7%) |
10 (2.8%) |
17 (4.7%) |
2 (0.6%) |
- |
| Zhu et al. 2016 [20] | AffymetrixCytoScanplatform | 115 |
21 (18.3%) |
6 (5.2%) |
2 (1.7%) |
11 (9.6%) |
2 (1.7%) |
- |
| Wang et al. 2017 [21] | Illumina HumanCytoSNP-12 v2.1 BeadChip | 602 |
133 (22.1%) |
65 (10.8%) |
20 (3.3%) |
40 (6.7%) |
8 (1.3%) |
36 (6.0%) |
| Liao et al. 2014 [22] |
Affymetrix CytoScan HD arrays |
99 |
19 (19.2%) |
excluded by CK |
excluded by CK |
19 (19.2%) |
- | 13 (13.1%) |
| Our study | Affymetrix Cytoscan 750 k array | 200 |
49 (24.5%) |
23 (11.5%) |
- |
20 (10.0%) |
6 (3.0%) |
8 (4%) |
CK: conventional karyotype; pCNVs: pathogenic copy number variation; lpCNVs: likely pathogenic copy number variation