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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