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Table 4 Rates of pCNV, likely pCNV and VOUS in the different types of CGIO

From: Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

 

All (93)

Isolated (63)

Complicated (30)

N

pCNV/likely pCNV, n (%)

VOUS, n (%)

N

pCNV/likely pCNV, n (%)

VOUS, n (%)

N

pCNV/likely pCNV, n (%)

VOUS, n (%)

esophageal stenosis/atresia

12

0

0

9

0

0

3

0

0

duodenal stenosis/atresia

40

7 (17.5)

1 (2.5)

30

3 (10.0)

0

10

4 (40.0)

1 (10.0)

jejunoileal stenosis/atresia

22

0

0

17

0

0

5

0

0

colonic stenosis/atresia

6

0

0

4

0

0

2

0

0

anorectal malformation

13

2 (15.4)

1 (7.7)

3

0

0

10

2 (20.0)

1 (10.0)

Total, n (%)

93

9 (9.7)

2 (2.2)

63

3 (4.8)

0

30

6 (20.0)a

2 (6.7)

  1. pCNV pathogenic copy number variants, VOUS variant of uncertain significance, CGIO congenital gastrointestinal atresia
  2. aDifferences between isolated CGIO and complicated CGIO groups were statistically significant (P < 0.05)