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Table 6 The comparison of studies in prevalence of genetic variants identified in CHD fetuses by CMA

From: Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

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%)
  1. CK: conventional karyotype; pCNVs: pathogenic copy number variation; lpCNVs: likely pathogenic copy number variation