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Table 3 Genetic study of Congenital heart defects: Karyotyping of chromosomal anomalies among congenital heart defect subtypes

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

 

Chromosomal anomalies(n = 87)

Subtype

Trisomy 21 (%)

Trisomy 18 (%)

Trisomy 13 (%)

45, XO (%)

47, XXX (%)

5p- Syndrome (%)

46, XY/XX, with partial deletion (%)

46, XY/XX, with partial duplication (%)

Others (%)

Subtotal (%)

VSD

31 (22·46)

59 (37·11)

8 (21·05)

6 (26·09)

 

1 (50)

14 (20·59)

18 (41·86)

5 (38·46)

142 (29·16)

ASD

49 (35·51)

23 (14·47)

2 (5·26)

   

3 (4·41)

2 (4·65)

1 (7·69)

80 (16·43)

TOF

18 (13·04)

15 (9·43)

5 (13·16)

 

1 (33·33)

 

10 (14·71)

6 (13·95)

4 (30·77)

59 (12·11)

DORV

7 (5·07)

14 (8·81)

5 (13·16)

6 (26·09)

 

1 (50)

4 (5·88)

1 (2·33)

 

38 (7·80)

TGA

4 (2·9)

5 (3·14)

2 (5·26)

   

2 (2·94)

  

13 (2·67)

PTA

4(2·9)

8(5·03)

2 (5·26)

   

6 (8·82)

  

20 (4·11)

PA

1 (0·72)

1 (0·63)

    

1 (1·47)

1 (2·33)

1 (7·69)

5 (1·03)

IAA

1 (0·72)

1 (0·63)

1 (2·63)

1 (4·35)

  

6 (8·82)

1 (2·33)

2 (15·38)

13 (2·67)

SV

2 (1·45)

3 (1·89)

2 (5·26)

    

2 (4·65)

 

9 (1·85)

Rhabdomyoma

1 (0·72)

        

1 (0·21)

HS

 

1 (0·63)

    

2 (2·94)

1 (2·33)

 

4 (0·82)

HLHS

5 (3·62)

5 (3·14)

2 (5·26)

5 (21·74)

  

3 (4·41)

  

20 (4·10)

HRHS

3 (2·17)

   

1(33·33)

 

5 (7·35)

1 (2·33)

 

10 (2·05)

PS

2 (1·45)

3(1·89)

1(2·63)

   

1(1·47)

2(4·65)

 

9 (1·85)

AS

1 (0·72)

3 (1·89)

2 (5·26)

2 (8·7)

  

2 (2·94)

  

10 (2·05)

AA

 

1 (0·63)

 

1 (4·35)

     

2 (0·41)

MA

 

3 (1·89)

2 (5·26)

1 (4·35)

     

6 (1·23)

PLSVC

4 (2·9)

2 (1·26)

1 (2·63)

   

2 (2·94)

2 (4·65)

 

11 (2·26)

TVD

2 (1·45)

        

2 (0·41)

MID

 

2 (1·26)

       

2 (0·41)

CVR

1 (0.72)

 

1 (2.63)

   

3 (4.41)

2 (4·65)

 

7 (1·44)

SVD

 

1 (0·63)

       

1 (0·21)

TBS

 

1 (0·63)

    

1 (1·47)

1 (2·33)

 

3 (0·62)

ECD

2 (1·45)

5 (3·14)

2 (5·26)

   

1 (1·47)

1 (2·33)

 

11 (2·26)

SA

 

1 (0·63)

       

1 (0·21)

SA-SV

 

1 (0·63)

       

1 (0·21)

CAA

      

1 (1·47)

  

1 (0·21)

VS

 

1 (0·63)

       

1 (0·21)

AB

    

1 (33·33)

 

1 (1·47)

  

2 (0·41)

ADV

   

1 (4·35)

     

1 (0·21)

ACRR

       

2 (4·65)

 

2 (0·41)

Total

138 (28·34)

159 (32·65)

38 (7·80)

23 (4·72)

3 (0·62)

2 (0·41)

68 (13·96)

43 (8·83)

13 (2·67)

487

  1. AA = aortic atresia. AB = atrioventricular block. ACRR = abnormal cardiac rate and rhythm. ADV = absence of ductus venosus. AS = aortic stenosis. ASD = atrial septal defect. AVS = aortic valve stenosis=. CAA = coarctation of aortic arch. CVR = congenital vascular ring. DORV = double-outlet right ventricle. ECD = endocardial cushion defects. HLHS = hypoplastic left heart syndrome. HRHS = hypoplastic right heart syndrome. HS = heterotaxy syndrome. IAA = interrupted aortic arch. MA = mitral atresia. MID = mirror-image dextrocardia. PA = pulmonary atresia. PLSVC = persistent left superior vena cava. PS = pulmonary stenosis. PTA = persistent truncus arteriosus. SA = single atrium. SV = single ventricle. SVD = semilunar valve dysplasia. TBS = Taussig Bing syndrome. TGA = transposition of the great arteries. TOF = tetralogy of Fallot. TVD = tricuspid valve dysplasia. VSD = ventricular septal defect
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Cell & Bioscience

ISSN: 2045-3701

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