Skip to main content

Table 4 Detection rates of chromosomal abnormalities in fetuses with CHD plus soft markers

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

CHD with nonstructuralanomalies

n

Chromosomal abnormalities

Total

Aneuploidy

pCNV

CHD with single soft marker

34

12

9

3

Single umbilical artery

11

3

1

2

Absent or shortened nasal bone

7

5

5

0

Mild ventriculomegaly

4

0

0

0

Short long bones

1

0

0

0

Echogenic bowel

1

1

0

1

Persistent right umbilical vein

3

0

0

0

Thickened nuchal fold

0

0

0

0

Enlarged cisterna magna

1

0

0

0

Increased nuchal translucency

0

0

0

0

Choroid plexus cysts

6

3

3

0

Pyelectasis

0

0

0

0

CHD with multiple soft markers

4

1

1

0

  1. Bold indicates a major category