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Table 2 Distribution of diagnosis across the anatomical systems of fetuses in the present cohort

From: Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

 

Cases (trios)

Double diagnosisa

CNV

Genetic variants

Diagnostic rate (%)

Cardiac

265

3

30

38

26.79

Chest and respiratory tract

43

0

3

1

9.30

CNS

116

0

8

11

16.38

Facial

127

1

7

9

13.39

Gastrointestinal tract and AW

42

1

5

2

19.05

Genitourinary

94

0

6

7

13.83

Hydrops

31

2

3

3

25.81

Increased NT

20

0

3

4

35.00

Skeletal

94

3

9

27

41.49

Multisystem

127

0

25

16

32.28

Total

959

10

99

118

23.67

  1. Fetuses were counted once
  2. CNV copy number variation; CNS central nervous system; AW abdominal wall; NT nuchal translucency
  3. aDouble diagnosis: fetuses that were diagnosed harboring causative CNV and genetic variants (single nucleotide variants and small insertion or deletion)