Sainz J A, Zurita M J, Guillen I, Borrero C, García-Mejido J, Almeida C, Turmo E, Garrido R
Servicio de Obstetricia y Ginecología, Hospital Universitario Valme, Sevilla, España.
Servicio de Obstetricia y Ginecología, Hospital Universitario Valme, Sevilla, España.
An Pediatr (Barc). 2015 Jan;82(1):27-34. doi: 10.1016/j.anpedi.2013.10.039. Epub 2014 Mar 11.
We propose to demonstrate that it is possible to implement a valid (diagnostic sensitivity for major cardiac malformations 90%), and universal (applied to over 90% of pregnant women), prenatal screening method for congenital heart defects.
Prospective study. A total of 12478 pregnant women were evaluated between January 2008 and December 2010. Congenital heart diseases were screened using fetal extended basic echocardiography (cardiac ultrasound).
The prevalence of birth defects in general and congenital heart disease was 2.5% (2.2-2.7%) and 0.9% (0.7-1%) respectively. Congenital heart disease had a higher rate of association with other structural abnormalities with 11.5% (5.6-17.4%), 21% for major congenital heart disease (9.9-32%), and chromosomal abnormalities of 15.9% (9.1-22.7%), with 32.6% for major congenital heart disease (19.8-45.3%). A fetal cardiac ultrasound assessment was performed on 99.2% of pregnant women. The fetal echocardiography is useful for the diagnosis of congenital heart disease in general, and major congenital heart disease, with a sensitivity of 42.8% (33.5-52.5%) and 90.4% (78.9-96.8%), respectively, and a specificity for both of 99.9% (99.8-99.9%).
It is possible to perform a valid prenatal and universal screening of major congenital heart disease.
我们旨在证明，有可能实施一种有效的（对主要心脏畸形的诊断敏感性为90%）且通用的（适用于90%以上的孕妇）先天性心脏病产前筛查方法。
前瞻性研究。2008年1月至2010年12月期间，共评估了12478名孕妇。采用胎儿扩展基本超声心动图（心脏超声）筛查先天性心脏病。
总体出生缺陷和先天性心脏病的患病率分别为2.5%（2.2 - 2.7%）和0.9%（0.7 - 1%）。先天性心脏病与其他结构异常的关联率更高，其中11.5%（5.6 - 17.4%），主要先天性心脏病为21%（9.9 - 32%），染色体异常为15.9%（9.1 - 22.7%），主要先天性心脏病为32.6%（19.8 - 45.3%）。99.2%的孕妇接受了胎儿心脏超声评估。胎儿超声心动图对一般先天性心脏病和主要先天性心脏病的诊断均有用，其敏感性分别为42.8%（33.5 - 52.5%）和90.4%（78.9 - 96.8%），两者的特异性均为99.9%（99.8 - 99.9%）。
对主要先天性心脏病进行有效的产前通用筛查是可行的。
