81
Views
0
CrossRef citations to date
0
Altmetric
Pregnancy

Intracardiac echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening

, , &
Pages 1017-1023 | Received 22 Dec 2009, Accepted 11 Apr 2010, Published online: 03 Jun 2010
 

Abstract

Objective. To determine the relation between intracardiac echogenic focus (ICEF) and trisomy 21 in a population of fetuses previously evaluated by first-trimester combined screening. Design. Prospective study to evaluate the prevalence of trisomy 21 for four groups of pregnancies: those with isolated ICEF, those with ICEF and positive first-trimester combined screening, those with ICEF and other ultrasound markers, and those with ICEF, positive first-trimester combined screening and other ultrasound markers. Setting. Teaching hospital. Population. A total of 7,118 fetuses received first-trimester combined screening and a second-trimester fetal anatomical scan. Methods. Amniocentesis for karyotyping was offered for those with positive result of first-trimester combined screening, and for those with the diagnosis of ICEF or other fetal chromosomal aneuploidy ultrasound markers in mid-trimester detailed fetal anatomical scans. Main outcome measures. The prevalence of trisomy 21 in each group. Results. For the entire study population, 25 trisomy 21 cases were diagnosed prenatally (prevalence, 0.35%). Among fetuses with positive first-trimester combined screening results, the likelihood ratio of trisomy 21 was significantly increased for those with, as compared to without, ICEF (3.5 vs. 0.80, p = 0.012). However, among fetuses with negative first-trimester combined screening results, the likelihood ratios of trisomy 21 did not differ significantly between those with and without ICEF. Conclusion. In pregnancies complicated by isolated ICEF but lacking additional anomalies on ultrasonographic examination and exhibiting negative first-trimester combined screening results, fetal karyotyping is not indicated.

Acknowledgements

This work was supported by research grants NSC 96-2314-B-182A-066-MY2 and NSC 97-2314-B-182A-057-MY2 from the National Science Council, Taiwan, ROC and research grant CMRPG371411 from Chang Gung Memorial Hospital.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.