Objective: The aim of this study is to determine the frequency of intracardiac echogenic foci in normal and trisomic cases, and analyse its usefulness as a marker of trisomy 21 in our population.
Methods: All cases who applied during 21.07.2000-25.05.2004 to the prenatal diagnosis department of the Süleymaniye Maternity Hospital for a detailed ultrasonographic examination underwent routine fetal cardiac screening involving four chamber and great vessel views. Location and number of intracardiac echogenic foci and the presence of cardiac and other sonographic anomalies were detected. The frequency of trisomy 21 in cases with and without hyperechogenic foci was determined by analysis of antenatal and neonatal recordings. c2, p-values and Odds Ratios were calculated using the program SPSS Ver.10.0.1 (SPSS Inc.Chicago, Illinoi)
Results: Intracardiac hyperechogenic foci (HEF) were found in 196 (3.33 %) of 5877 cases. HEF were located left, right and bilateral in 88 (44.89 %), 86 (43.87 %) and 22 (11.22 %) cases respectively. 179 cases had isolated HEF, whereas in 17 HEF was accompanied by other soft markers for trisomy 21. Overall trisomy 21 was found in 9 of 5877(0.15%) cases. Trisomy 21 frequency was 0.12 % (7/5681), 1.02 % (2/196) and 11.76 % (2/17) in cases without HEF, with HEF but without considering the presence of additional soft markers and HEF+ any soft marker for trisomy 21 respectively. None of the cases with isolated HEF had trisomy 21. OR values and 5-95 percent confidence intervals for trisomy 21 in isolated HEF, HEF without considering the presence of additional soft markers and HEF + soft marker groups were 2,11(0,12- 37,16), 8,35(1,72-40,50) ve 111,49 (21,37-581,40) respectively.
Conclusion: Isolated HEF carries no significantly increased risk for trisomy 21 in a low risk Turkish population. But a detailed ultrasonographic examination is recommended to exclude the presence of other subtle signs (soft markers) of trisomy 21.