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

Table 1b Spectrum and proportion of congenital heart defect subtypes

	CHD subtype	Single anomaly	Multi-anomalies	Subtotal	Subtype in major / minor anomaly	Subtype in all CHDs identified
Major	Subtotal	6,947	2,831	9,778	100.00%	53.81%
1	TOF	2,034	350	2,384	24·38%	13·12%
2	AVSD	1,444	344	1,788	18·29%	9·84%
3	DORV	491	757	1,248	12·76%	6·87%
4	TGA	636	301	937	9·58%	5·16%
5	SV	282	501	783	8·01%	4·31%
6	HLHS	587	106	693	7·09%	3·81%
7	PTA	415	250	665	6·80%	3·66%
8	HRHS	451	64	515	5·27%	2·83%
9	HS	443	0	443	4·53%	2·44%
10	PA	75	63	138	1·41%	0·76%
11	TAPVD	47	33	80	0·82%	0·44%
12	DOLV	6	26	32	0·33%	0·18%
13	AA	5	21	26	0·27%	0·14%
14	APW	9	14	23	0·24%	0·13%
15	EC	22	1	23	0·24%	0·13%
Minor	Subtotal	7,149	1,244	8,393	100·00%	46·19%
1	VSD	4,100	245	4,345	51·77%	23·91%
2	PLSVC	1,037	1	1,038	12·37%	5·71%
3	COA/IAA	227	439	666	7·94%	3·67%
4	AS	131	335	466	5·55%	2·56%
5	PS	422	22	444	5·29%	2·44%
6	CVR	378	6	384	4·58%	2·11%
7	Rhabdomyoma	283	14	297	3·54%	1·63%
8	RAA	231	13	244	2·91%	1·34%
9	TVS	140	65	205	2·44%	1·13%
10	EA	70	56	126	1·50%	0·69%
11	TA	23	17	40	0·48%	0·22%
12	MVS	25	8	33	0·39%	0·18%
13	CAF	15	8	23	0·27%	0·13%
14	CTOH	17	0	17	0·20%	0·09%
15	MA	9	6	15	0·18%	0·08%
16	CT	11	2	13	0·15%	0·07%
17	VA	9	1	10	0·12%	0·06%
18	EFE	6	5	11	0·13%	0·06%
19	PCDA	7	1	8	0·10%	0·04%
20	BAV	4	0	4	0·05%	0·02%
21	CD	4	0	4	0·05%	0·02%
	Total	14,096	4,075	18,171
	Percentage	76·24%	23·76%

AA = aortic atresia. APW = aortopulmonary window. AS = aortic stenosis. AVSD = atrioventricular septal defect. BAV = bicuspid aortic valve. CAF = coronary artery fistula. CD = cardiac diverticulum. CHD = congenital heart defect. COA/IAA = coarctation of the aorta/interrupted aortic arch. CT = cor triatriatum. CTOH = conjoined twins with one heart. CVR = congenital vascular ring. DOLV = double-outlet left ventricle. DORV = double-outlet right ventricle. EA = Ebstein's anomaly. EC = ectopia cordis. EFE = endocardial fibroelastosis. HLHS = hypoplastic left heart syndrome. HRHS = hypoplastic right heart syndrome. HS = heterotaxy syndrome. MA = mitral atresia. MVS = mitral valve stenosis. PA = pulmonary atresia. PCDA = premature closure of the ductus arteriosus. PLSVC = persistent left superior vena cava. PS = pulmonary stenosis. PTA = persistent truncus arteriosus. RAA = right aortic arch. SV = single ventricle. TA = tricuspid atresia. TAPVD = total anomalous pulmonary venous drainage. TGA = transposition of the great arteries. TOF = tetralogy of Fallot. TVS = tricuspid valve stenosis. VA = ventricular aneurysm. VSD = ventricular septal defect

ISSN: 2045-3701