Isolated echogenic intracardiac foci in patients with low-risk triple screen results: assessing the risk of trisomy 21.
OBJECTIVE
While an echogenic intracardiac focus (EIF) is associated with an increased risk of trisomy 21 (T21), the magnitude of that risk remains controversial, particularly in the setting of a low-risk triple screen (TS). The objective of this study is to define the risk of T21 in patients with a low-risk TS and an isolated EIF.


METHODS
A retrospective analysis was performed on patients presenting prior to 22 6/7 weeks of gestation. Patients met criteria for inclusion if an EIF was noted, a TS had been drawn, the anatomic survey was complete and was determined to be normal, and karyotyping or delivery occurred at Bellevue Hospital. A high-risk TS was defined as a risk of <1:500, assuming a 2-fold increased risk in the setting of an isolated EIF. A low-risk TS was defined as a risk of >1:500. Statistical analysis was performed using chi-square, with p values of <0.05 considered significant.


RESULTS
7,318 anatomic surveys were performed. An EIF was identified in 584 patients (7.98%), of which 391 met the criteria for inclusion. Of the 391, 51% were Asian and 38% were Hispanic; 348 had a low-risk TS and 43 had a high-risk TS. Patients with an EIF and a low-risk TS had a significantly lower risk of having a T21 pregnancy compared to those with a high-risk TS and an EIF (0 vs. 2.3%; p = 0.004).


CONCLUSIONS
An isolated EIF with a low risk TS is not associated with an increased risk of T21.
Koklanaris
Nikki
N
Division of Maternal-Fetal Medicine, New York University, New York 10016, USA. koklan01@med.nyu.edu
Roman
Ashley S
AS
Perle
Mary Ann
MA
Monteagudo
Ana
A
D004314:Down Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging*; D004452:Echocardiography; D005260:Female; D005318:Fetal Heart / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D012189:Retrospective Studies; D012307:Risk Factors; D016216:Ultrasonography, Prenatal