[Prenatal screening of congenital heart defects in population at low risk of congenital defects. A reality today].

INTRODUCTION 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. MATERIALS AND METHODS 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). RESULTS 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%). CONCLUSIONS It is possible to perform a valid prenatal and universal screening of major congenital heart disease.