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Table 3 The results of CMA and karotyping on 234 cases with single NT ≥ 2.5 mm

From: Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators

NT (mm)

Number

Aneuploidy

BCAs

CNV

CNV

P

LP

2.5–2.9

89

3

(3.37%)

0

(0.00%)

1

(1.12%)

1

(1.12%)

0

(0.00%)

3.0-3.4

78

5

(6.41%)

1

(1.28%)

2

(2.56%)

2

(2.56%)

0

(0.00%)

3.5–4.4

46

7

(15.22%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

4.5–5.4

13

3

(23.08%)

1

(7.69%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

≥ 5.5

8

3

(37.50%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

All

234

21

(8.97%)

2

(0.85%)

3

(1.28%)

3

(1.28%)

0

(0.00%)

  1. BCAs: balanced chromosome abnormalities; P: pathogenic; LP: likely pathogenic.
  2. Aneuploidy included mosaic