An isolated intracardiac echogenic focus as a marker for aneuploidy

Kathleen E. Bradley, Thomas S. Santulli, Kimberly D. Gregory, William Herbert, Dru E. Carlson, Lawrence D. Platt, Roger Rowles, Lyman Rust, Lee Learman, Martin Schwartz, Jodell Boyle, Joseph Ouzounian, David Johnson

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Objective: This study was undertaken to evaluate the relationship of an isolated fetal intracardiac echogenic focus in a population of patients with a mixed risk for aneuploidy when presenting for prenatal diagnosis. Study design: All women referred to our institution for screening ultrasound were prospectively evaluated for the presence of an intracardiac echogenic focus in the fetal heart. Each patient was evaluated for the presence of clinical risk factors including ultrasound findings, biochemical screening, and maternal age. The population of patients was then described and neonatal outcomes were obtained. Results: A total of 10,875 patients were referred and 176 cases of fetal intracardiac echogenic foci were evaluated. There was an overall prevalence of 1.6% in our population. The patients with other ultrasound findings and/or maternal age older than 35 years who underwent amniocentesis had 3 abnormal karyotypes identified and had identifiable risk factors. In the group less than 35 years, the relative risk was 2.55 of having an amniocentesis for an isolated echogenic focus (with no cases of fetal aneuploidy found) in comparison with our referred group of nonadvanced maternal age patients without any ultrasound markers or findings. Conclusion: This isolated echogenic finding appears to be a benign variant and not an increased risk for fetal aneuploidy. The chromosomal abnormalities were seen in the group with risk factors including maternal age and/or other ultrasound findings. Evaluation of maternal age, biochemical markers, and ultrasound markers should be used together to help determine the risk of patients with an isolated echogenic focus.

Original languageEnglish (US)
Pages (from-to)2021-2028
Number of pages8
JournalAmerican Journal of Obstetrics and Gynecology
Volume192
Issue number6
DOIs
StatePublished - Jun 2005
Externally publishedYes

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Aneuploidy
Maternal Age
Amniocentesis
Population
Abnormal Karyotype
Fetal Heart
Prenatal Diagnosis
Chromosome Aberrations
Biomarkers

Keywords

  • Fetal aneuploidy
  • Intracardiac echogenic focus
  • Ultrasound

ASJC Scopus subject areas

  • Medicine(all)
  • Obstetrics and Gynecology

Cite this

Bradley, K. E., Santulli, T. S., Gregory, K. D., Herbert, W., Carlson, D. E., Platt, L. D., ... Johnson, D. (2005). An isolated intracardiac echogenic focus as a marker for aneuploidy. American Journal of Obstetrics and Gynecology, 192(6), 2021-2028. https://doi.org/10.1016/j.ajog.2005.03.033

An isolated intracardiac echogenic focus as a marker for aneuploidy. / Bradley, Kathleen E.; Santulli, Thomas S.; Gregory, Kimberly D.; Herbert, William; Carlson, Dru E.; Platt, Lawrence D.; Rowles, Roger; Rust, Lyman; Learman, Lee; Schwartz, Martin; Boyle, Jodell; Ouzounian, Joseph; Johnson, David.

In: American Journal of Obstetrics and Gynecology, Vol. 192, No. 6, 06.2005, p. 2021-2028.

Research output: Contribution to journalArticle

Bradley, KE, Santulli, TS, Gregory, KD, Herbert, W, Carlson, DE, Platt, LD, Rowles, R, Rust, L, Learman, L, Schwartz, M, Boyle, J, Ouzounian, J & Johnson, D 2005, 'An isolated intracardiac echogenic focus as a marker for aneuploidy', American Journal of Obstetrics and Gynecology, vol. 192, no. 6, pp. 2021-2028. https://doi.org/10.1016/j.ajog.2005.03.033
Bradley KE, Santulli TS, Gregory KD, Herbert W, Carlson DE, Platt LD et al. An isolated intracardiac echogenic focus as a marker for aneuploidy. American Journal of Obstetrics and Gynecology. 2005 Jun;192(6):2021-2028. https://doi.org/10.1016/j.ajog.2005.03.033
Bradley, Kathleen E. ; Santulli, Thomas S. ; Gregory, Kimberly D. ; Herbert, William ; Carlson, Dru E. ; Platt, Lawrence D. ; Rowles, Roger ; Rust, Lyman ; Learman, Lee ; Schwartz, Martin ; Boyle, Jodell ; Ouzounian, Joseph ; Johnson, David. / An isolated intracardiac echogenic focus as a marker for aneuploidy. In: American Journal of Obstetrics and Gynecology. 2005 ; Vol. 192, No. 6. pp. 2021-2028.
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