The association between isolated fetal echogenic cardiac foci on second-trimester ultrasound scan and trisomy 21 in low-risk unselected women.

Abstract

To determine the prevalence of and the association between trisomy 21 and isolated fetal echogenic cardiac foci (FECF) identified in the second trimester in an unselected low-risk population. All cases with isolated FECF were collected by reviewing the antenatal ultrasound database for 3 consecutive years. In order to include all trisomy 21 cases for the same period, the regional cytogenetics database and pediatric databases were examined. A 2 x 2-table analysis was performed to establish the sensitivity, specificity and positive and negative predictive values of isolated FECF as a screening test for trisomy 21 in a low-risk unselected population. In the 3-year period of the study the total number of deliveries was 11,105, of which 10,769 (97%) had a routine detailed anomaly scan between 16 and 24 weeks' gestation. There were 311 cases (2.9%) of isolated FECF. Among these there was only one case (0.3%) of trisomy 21. In the same period, the total number of trisomy 21 cases was 14. Accordingly, the sensitivity of isolated FECF for detecting trisomy 21 was 7.1% and the specificity was 97.1%. Positive and negative predictive values of FECF were 0.3% and 99.9%, respectively. In an otherwise healthy pregnancy, the finding of isolated FECF on a routine second-trimester anomaly scan is normal and should not be considered as a risk factor for trisomy 21 in an unselected low-risk population.