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Table 4 Detection rate of clinically significant chromosomal aberrations in fetuses with various CFMs

From: Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations

Malformation

Simple CFMs

Complex CFMs (n/N)

Referred cases (n/N, %)

Cranial malformation (n/N)

Orofacial cleft (n/N)

Nasal deformity (n/N)

Ocular malformation (n/N)

Ear abnormality (n/N)

Macroglossia (n/N)

Micrognathia (n/N)

Isolated CFMs

1/9

5/25

0/5

0/0

0/2

0/0

1/1

0/5

7/47, 14.9%

Non-isolated CFMs

10/32

8/19

0/0

1/6

1/1

0/1

0/0

6/12

26/71, 36.6%

Total

11/41

13/44

0/5

1/6

1/3

0/1

1/1

6/17

33/118, 28.0%

  1. CFM craniofacial malformation