A 38 years old female came for 2nd-trimester detail scan as to rule out Down's Syndrome. She was supposed to come during 11th-13th week for the NT scan for Down's Syndrome. She has previous history of miscarriaged and cleft-lip of her baby; her husband's family has the history of Down's Syndrome disease. 2nd trimester detail scan was performed. An isolated echogenic focus is detected in fetal heart, which is the soft marker for the possibility of the baby to have Down's Syndrome.
A sonographically isolated echogenic intracardiac focus with no other anomalies or markers noted on a complete genetic sonogram, was associated in our high-risk population with a 4.8-fold (95% CI: 1.8, 12.5) increase in RR for trisomy 21(P = .002).
Information taken from: Thomas CW, Amy MA, Edith YC, Cathy AK, Vivienne LS, MD Stefanie BU and David AN. Echogenic Intracardiac Focus in 2nd-Trimester Fetuses with Trisomy 21: Usefulness as a US Marker. Radiology 2000; 216:450-456.