Kardiocentrum and Centre for Cardiovascular Research, University Hospital Motol, Prague, Czech Republic.
Heart. 2011 Jan;97(2):124-30. doi: 10.1136/hrt.2010.206623.
To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population.
A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem.
In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%.
The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.
确定先天性心脏病（CHD）的流行率和范围，以及全国性产前超声筛查计划对特定人群中结局的影响。
在捷克共和国，在 21 年期间（1986-2006 年），创建了一个涵盖所有患有 CHD 的儿科和胎儿患者的综合登记册。集中的医疗保健系统使产前和产后发现能够通过临床和死后确认。
在被转介进行详细心脏评估的 9475 例胎儿中，有 1604 例（16.9%）患有 CHD，其中 501 例（31.2%）有额外的心脏外异常。在继续妊娠的妊娠中，685 例胎儿中有 59 例（8.6%）在子宫内死亡，626 例（91.4%）婴儿存活。在双出口右心室（77.3%）和左心发育不全（50.6%）中，产前检出率最高。12/17 种病变的检出率明显升高（p<0.001），比较 1986-1999 年和 2000-2006 年。近年来，左心发育不全的检出率达到 95.8%，而大动脉转位仅在产前诊断出 25.6%。
全国性的产前超声筛查计划使 1/3 出生时患有任何 CHD 的患者和 80%患有严重 CHD 的患者能够发现主要的心脏异常。尽管如此，由于病变和相关心脏外异常的严重程度，产前诊断出的 CHD 的总体死亡率仍然很高。这些发现对于理解 CHD 的自然史以及在欧洲建立筛查计划非常重要。
