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Table 3 Ultrasonic soft markers and SNP array

From: Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

Groups

Number of fetuses

Number of abnormal CNVs

Pathogenic CNVs

VUS CNVs

Single ultrasonic soft marker

729

45 (6.2%)

24

21

Short femur

26

4 (15.4%)

3

1

Mild tricuspid regurgitation

16

2 (12.5%)

1

1

Choroid plexus cyst

54

4 (7.4%)

1

3

Ventriculomegaly

115

8 (7.0%)

4

4

Absent nasal bone

76

5 (6.6%)

2

3

Thickened nuchal translucency

302

18 (6.0%)

11

7

Hyperechogenic bowel

65

3 (4.6%)

2

1

Echogenic intracardiac focus

22

1 (4.5%)

1

0

Two ultrasonic soft markers

322

20 (6.2%)

10

10

Three or more ultrasonic soft markers

80

4 (5.0%)

3

1

  1. CNVs abnormal copy number variations, SNP single nucleotide polymorphism, VUS variation of uncertain clinical significance