title: Isolated echogenic intracardiac foci in patients with low-risk triple screen results: assessing the risk of trisomy 21.
abstract: 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.
authors.affiliation: Division of Maternal-Fetal Medicine, New York University, New York 10016, USA. koklan01@med.nyu.edu
authors.forename: Nikki
authors.initials: N
authors.lastname: Koklanaris
authors.forename: Ashley S
authors.initials: AS
authors.lastname: Roman
authors.forename: Mary Ann
authors.initials: MA
authors.lastname: Perle
authors.forename: Ana
authors.initials: A
authors.lastname: Monteagudo
mesh_terms: 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