Meta-analysis of validity of echogenic intracardiac foci for calculating the risk of Down syndrome in the second trimester of pregnancy

Abstract Echogenic intracardiac foci are a second trimester marker associated with aneuploidy in high-risk populations. The objective of this study is to assess the validity of echogenic intracardiac foci for Down syndrome detection in the second trimester ultrasound scan. A systematic search in major bibliographic databases was carried out (MEDLINE, EMBASE, CINAHL). Twenty-five studies about echogenic intracardiac foci were selected for statistical synthesis in this systematic review. Those 25 considered to be relevant were then subjected to critical reading, following the Critical Appraisal Skills Programme criteria, by at least three independent observers. Then, the published articles were subjected to a meta-analysis. A global sensitivity of 21.8% and a 4.1% false positive rate were obtained. The positive likelihood ratio was 5.08 (95% confidence interval, 4.04–6.41). The subgroups analysis did not reveal statistically significant differences. In conclusion, echogenic intracardiac foci as an isolated marker could be a tool to identify—rather than exclude—the high-risk group of Down syndrome, although it should be noted that it shows low sensitivity.