Skip to main content

Table 4 The results of CMA and karyotyping on 281 cases with single NIPT high-risk

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

NIPT

Number

Aneuploidy

BCAs

CNV

CNV

P

LP

Chromosomes 13

25

2

(8.00%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

Chromosomes 18

29

10

(34.48%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

0

(0.00%)

Chromosomes 21

44

30

(68.18%)

0

(0.00%)

2

(4.55%)

1

(2.27%)

1

(2.27%)

Sex chromosomes

100

46

(46.00%)

0

(0.00%)

4

(4.00%)

4

(4.00%)

0

(0.00%)

Other chromosomes

83

2

(2.41%)

0

(0.00%)

7

(8.43%)

7

(8.43%)

0

(0.00%)

All

281

90

(32.03%)

0

(0.00%)

13

(4.63%)

12

(4.27%)

1

(0.36%)

  1. BCAs: balanced chromosome abnormalities; P: pathogenic; LP: likely pathogenic.
  2. Other chromosomes indicate chromosomes except chr21, chr13, chr18 and sex chromosomes.
  3. Aneuploidy included mosaic.