Abstract

SAINZ B, José A et al. Implementación universal de un cribado de defectos congénitos de garantía en un área sanitaria: área hospitalaria de Valme, Sevilla, España. Rev. chil. obstet. ginecol. [online]. 2011, vol.76, n.5, pp. 325-333. ISSN 0717-7526.  doi: 10.4067/S0717-75262011000500007.

Background: The probability of a newborn presenting some kind of congenital defect at birth is 2-4% and the application of methods of screening for chromosomal and structural abnormalities can reduce the prevalence of these defects at birth. Objectives: The aim of this study is to prove that it is possible to implement a screening for congenital malformations that is standardised (diagnostic sensitivity [Sen]>80% for major structural deformations and Down's syndrome) and universal (90% of pregnant women). We also want to prove that this screening reduces the rate of undiagnosed congenital defects at birth. Methods: Prospective study. We assessed 12,478 pregnant women (July 2006- September 2009). A morphological ultrasound (18-22 weeks) and a combined test were carried out as the methods for screening for congenital defects. Results: The prevalence of congenital defects was 2.26% [95% CI: 1.9-2.5] (282/12478). The ultrasound scan was performed on 99.2% of the pregnant women. There was a Sen of 79.3% [95% CI: 74.3-84.4] (196/247) for structural malformation and 95.6% [95% CI: 91.8-99.3] (110/115) for major malformations). Screening for chromosomal anomalies was performed on 95.1% of pregnant women with a Sen of 88.5% [95% CI: 79.9-99] (31/35). Conclusions: A standardised and universal screening for congenital defects reduced the prevalence of undiagnosed congenital defects at birth to 0.5%.

Keywords : Congenital defects; congenital malformation; Down's syndrome; chromosomal anomalies; prenatal diagnosis.