HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Winter, T. C. Articles by Nyberg, D. A. Search for Related Content PubMed PubMed Citation Articles by Winter, T. C. Articles by Nyberg, D. A.

Echogenic Intracardiac Focus in 2nd-Trimester Fetuses with Trisomy 21: Usefulness as a US Marker¹

¹ From the Department of Radiology, Division of Ultrasound (T.C.W., A.M.A., C.A.K.), and the Department of Obstetrics and Gynecology, Division of Perinatal Medicine (E.Y.C., S.B.U.), University of Washington Medical Center, Seattle; and Swedish Nuclear Medicine and Ultrasound Associates, Seattle, Wash (V.L.S., D.A.N.). Received May 18, 1999; revision requested July 19; final revision received December 13; accepted January 12, 2000. Address correspondence to T.C.W., Department of Radiology, University of Wisconsin Hospital, E3/311 CSC, 600 Highland Ave, Box 3252, Madison, WI 53792-3252.

PURPOSE: To determine whether there is a relationship between the presence of an echogenic intracardiac focus in 2nd-trimester fetuses and trisomy 21 (Down syndrome).

MATERIALS AND METHODS: A complete genetic ultrasonographic (US) scan was obtained in 3,303 consecutive fetuses with an estimated gestational age of 14.0–24.0 weeks (mean ± SD, 17.1 weeks ± 1.75). US was performed in a prospective fashion without any knowledge of karyotype and included assessment of any potential echogenic intracardiac focus (ie, calcified papillary muscle). Karyotypes were obtained in all fetuses. Maternal ages ranged from 13.0 to 47.4 years (mean, 35.1 years ± 5.1). The prevalence of Down syndrome in this population was 1.6% (53 of 3,303 fetuses).

RESULTS: An echogenic intracardiac focus was seen in 147 of the 3,192 karyotypically normal fetuses (4.6%) and 16 of the 53 fetuses with trisomy 21 (30%). The positive predictive value (PPV) of an echogenic intracardiac focus in this high-risk population was 9.8%; sensitivity, 30%; specificity, 95%; likelihood ratio, 6.6; and relative risk (RR), 8.2 (P < .001). For a sonographically isolated echogenic intracardiac focus, the PPV was 3.7%; sensitivity, 19%; specificity, 95%; likelihood ratio, 4.2; and RR, 4.8 (P = .002).

CONCLUSION: A sonographically isolated echogenic intracardiac focus (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).

Index terms: Down syndrome, 856.184 • Fetus, abnormalities, 856.8753 • Fetus, US, 856.1298 • Heart, US, 856.8753

This article has been cited by other articles:

				P. M. Doubilet, J. A. Copel, C. B. Benson, R. O. Bahado-Singh, and L. D. Platt Choroid Plexus Cyst and Echogenic Intracardiac Focus in Women at Low Risk for Chromosomal Anomalies: The Obligation to Inform the Mother J. Ultrasound Med., July 1, 2004; 23(7): 883 - 885. [Full Text] [PDF]

				C. Coco, P. Jeanty, and C. Jeanty An Isolated Echogenic Heart Focus Is Not an Indication for Amniocentesis in 12,672 Unselected Patients J. Ultrasound Med., April 1, 2004; 23(4): 489 - 496. [Abstract] [Full Text] [PDF]

				V. L. Souter, D. A. Nyberg, P. A. Benn, A. Zebelman, F. Luthardt, and D. A. Luthy Correlation of Second-Trimester Sonographic and Biochemical Markers J. Ultrasound Med., April 1, 2004; 23(4): 505 - 511. [Abstract] [Full Text] [PDF]

				A. Sotiriadis, G. Makrydimas, and J. P. A. Ioannidis Diagnostic Performance of Intracardiac Echogenic Foci for Down Syndrome: A Meta-analysis Obstet. Gynecol., May 1, 2003; 101(5): 1009 - 1016. [Abstract] [Full Text] [PDF]