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Table 2 Extracardiac defects associated with congenital heart defects

From: Incidence, distribution, disease spectrum, and genetic deficits of congenital heart defects in China: implementation of prenatal ultrasound screening identified 18,171 affected fetuses from 2,452,249 pregnancies

Disease

TOF

AVSD

DORV

TGA

SV

HLHS

PTA

HRHS

HS

PA

VSD

LSVC

COA/IAA

AS

PS

VR

Total number

Digestive system malformations

56

62

55

22

39

9

31

7

15

6

128

7

10

15

6

5

473

Esophageal atresia

14

17

15

5

10

2

14

 

8

 

36

1

3

6

1

1

133

Duodenal atresia/stenosis

15

24

14

3

3

 

7

1

4

1

41

3

4

2

 

2

124

Persistent right umbilical vein

12

12

16

8

22

5

8

1

2

4

22

 

2

3

1

2

120

Hyperechoic bowel

7

5

8

4

3

1

1

5

1

1

18

3

1

4

4

 

66

Bowel dilatation

8

4

2

2

1

1

1

   

11

     

30

CNS malformations

136

177

142

40

48

32

46

20

15

3

427

29

44

37

14

12

1222

Dandy-walker

25

37

21

10

6

8

12

5

3

1

58

2

10

7

2

3

210

Choroid plexus cysts

9

42

35

1

4

1

2

1

3

 

92

3

3

4

1

 

201

Medulla oblongata broadening

19

16

18

10

7

6

4

3

  

77

3

7

7

2

2

181

Lateral ventricle broadening

17

26

14

4

8

5

4

5

3

2

52

11

6

6

3

5

171

Hydrocephalus

16

11

16

5

3

1

9

3

1

 

34

1

1

4

2

1

108

Holoprosencephaly

19

19

16

3

13

6

7

 

3

 

34

4

7

3

 

1

135

Agenesis of corpus callosum

7

13

6

2

1

2

1

 

2

 

23

3

4

4

2

 

70

Spina bifida

10

7

7

4

4

2

5

2

  

21

 

4

   

66

Arachnoid cyst

8

1

4

1

 

1

    

13

2

2

 

2

 

34

Spinal meningocele

5

3

3

 

1

 

2

1

  

11

     

26

Septum pellucidum broadening

1

2

2

 

1

     

12

  

2

  

20

Fetal appendage malformations

137

112

138

31

51

35

54

23

22

1

241

47

31

28

12

8

971

Single umbilical artery

128

103

113

30

48

34

47

21

22

1

205

47

28

26

11

8

872

Cyst of cord

9

9

25

1

3

1

7

2

  

36

 

3

2

1

 

99

Skeletal system malformations

52

88

68

16

24

13

27

7

15

1

196

11

13

12

3

1

547

Abnormal handing posture

8

23

16

2

3

2

5

1

3

 

61

1

5

7

  

137

Talipes equinovarus

16

27

18

7

8

4

5

 

4

 

50

3

4

 

1

 

147

Absent radius

16

29

21

4

4

3

6

1

3

 

50

1

 

3

  

141

Scoliosis

4

2

6

2

6

2

5

 

3

1

15

1

 

1

1

 

49

Hemipyramid

5

2

2

1

3

 

4

1

  

10

5

1

 

1

1

36

Achondroplasia

3

5

5

  

2

2

4

2

 

10

 

3

1

  

37

Craniofacial anomalies

88

96

84

17

23

22

28

10

15

4

219

9

20

13

9

2

659

Labial fold

43

32

38

12

9

13

16

3

4

2

89

4

12

9

5

1

292

Nasal bone agenesis

17

30

9

2

4

5

7

2

4

1

57

1

1

3

1

 

144

Micrognathia

9

19

15

1

5

 

4

2

2

1

32

1

5

 

1

 

97

Eye span long/short

9

10

14

1

3

3

1

3

2

 

19

3

1

1

2

1

73

Ear deformity

10

5

8

1

2

1

  

3

 

22

 

1

   

53

Fetal hydrops

54

74

48

12

40

84

16

25

8

7

135

15

18

22

16

 

574

Skin dropsy / Separate cystic hygroma

25

36

23

5

16

41

7

7

3

1

64

5

7

10

6

0

256

Hydrothorax/Ascites

29

38

25

7

24

43

9

18

5

6

71

10

11

12

10

0

318

Urogenital system malformations

99

70

83

29

48

34

32

14

12

1

172

26

26

21

22

9

698

Hydronephrosis

22

16

15

7

9

11

4

2

1

 

31

6

8

4

4

3

143

Polycystic kidney

18

12

19

1

11

5

9

5

2

 

33

4

3

5

6

2

135

Renal agenesis

25

9

15

3

5

3

7

3

  

38

8

1

8

7

 

132

Horseshoe kidney

7

3

6

  

5

1

 

1

1

18

3

3

1

1

 

50

Duplex kidney

3

4

3

 

2

2

    

4

3

2

1

2

2

28

Diaphragmatic hernia

15

18

16

11

18

3

9

2

4

 

35

1

4

2

 

1

139

Pulmonary hypoplasia

8

5

5

6

 

5

1

2

2

 

9

 

3

 

2

 

48

Congenital cystic adenomatoid malformation

1

3

4

1

3

0

1

 

2

 

4

1

2

  

1

23

Abdominal-wall defects

29

27

30

6

10

9

12

2

1

 

60

4

2

2

  

194

Omphalocele

27

23

23

4

7

9

11

1

1

 

52

3

2

2

  

165

Gastroschisis

2

4

7

2

3

 

1

1

  

8

1

    

29

Total (n = 5,338)

651

706

648

173

283

238

246

108

103

23

1,578

148

164

150

82

37

5,338

  1. AS = aortic stenosis. AVSD = atrioventricular septal defect. COA/IAA = coarctation of the aorta/interrupted aortic arch. DORV = double-outlet right ventricle. HLHS = hypoplastic left heart syndrome. HRHS = hypoplastic right heart syndrome. HS = heterotaxy syndrome. LSVC = left superior vena cava. PA = pulmonary atresia. PS = pulmonary stenosis. PTA = persistent truncus arteriosus. SV = single ventricle. TGA = transposition of the great arteries. TOF = tetralogy of Fallot. VR = vascular ring. VSD = ventricular septal defect