over the age of 35 years old, has abnormal serum
screening, or additional ultrasound findings [1,6,7]. These babies may be
about twice as likely to have Down syndrome when an EIF is seen [7, 8, 9, 10]
An echogenic intracardiac focus (EIF) is a small white spot (as bright as bone)
seen in the baby’s heart during an ultrasound examination.. These bright
spots appear to be caused by small deposits of calcium in the papillary muscle
of the heart [2,3]. EIF are most often a normal finding and have no significant
effect on the development of the heart [1,4]. EIF may be seen in up to 30, 6,
and 11 % of Asian, black, and white fetuses respectively .
Some studies have shown that a baby is is more likely to have Down syndrome when
an EIF is seen if the mother is
Click image to enlarge
If an echogenic intracardiac focus is found on routine ultrasound then a
targeted level II sonogram should be performed
- To distinguish an EIF from a fetal cardiac tumor. Fetal cardiac
tumors are most commonly found within the cardiac muscle
or septum. Cardiac tumors tend to be larger, multiple, and are not
as bright as the typical “echogenic focus”.
- To identify additional markers for Down syndrome if present.
An echogenic intracardiac focus is not a birth defect,
and does not cause any long term health problems or heart problems for the
he echogenic intracardiac focus is another marker that has been associated with
Down syndrome, as well as with trisomy 13
Lehman CD, Nyberg DA, Winter TC, III, Kapur RP, Resta RG, Luthy DA. Trisomy 13
syndrome: prenatal US findings in a review of 33 cases. Radiology 1995;
194:217-222.Abstract/FREE Full Text
add the following to choroid plexus cyst
Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and
hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.
Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH.
Ultrasound Obstet Gynecol. 2008 Feb;31(2):132-5.
ntracardiac echogenic focus and trisomy 21 in a population previously evaluated
by first-trimester combined screening.
Huang SY, Shaw SW, Cheuh HY, Cheng PJ.
Acta Obstet Gynecol Scand. 2010 Aug;89(8):1017-23. doi:
1. Bradley KE, et al. An isolated intracardiac echogenic focus as a marker
for aneuploidy. Am J Obstet Gynecol. 2005 Jun;192(6):2021-6; discussion 2026-8. PMID:15970883
2. Roberts DJ, Genest D. Cardiac histologic pathology characteristic of
trisomies 13 and 21. Hum Pathol. 1992;23:1130-1140.
3. Brown D.L., Roberts D.J., Miller W.A., Left ventricular echogenic focus in
the fetal heart: pathologic correlation. J Ultrasound Med (1994) 13 : pp 613-616
4. Wax JR, Donnelly J, Carpenter M, et al. Childhood cardiac function after
prenatal diagnosis of intracardiac echogenic foci. J Ultrasound Med.
5. Shipp TD, et al. The frequency of the detection of fetal echogenic intracardiac foci
with respect to maternal race. Ultrasound
Obstet Gynecol. 2000 ;15:460-2. PMID: 11005111
6. Anderson N and Jyoti R Relationship of
isolated fetal intracardiac echogenic focus to
trisomy 21 at the mid-trimester sonogram in
women younger than 35 years.Ultrasound Obstet Gynecol. 2003 ;21:354-8. PMID: 12704743
7. Shanks AL, et al. Echogenic intracardiac foci: associated with increased risk
for fetal trisomy 21 or not? J Ultrasound Med. 2009 Dec;28(12):1639-43. PMID:
8. Bromley B, Lieberman E, Shipp TD, et al. The genetic sonogram: a method
of risk assessment for Down syndrome in the second trimester. J Ultrasound
9.Nyberg DA, et al . Isolated sonographic
markers for detection of fetal Down
syndrome in the second trimester of
pregnancy. J Ultrasound Med. 2001;20:1053-
63. PMID: 11587012
10. Smith-Bindman R, et al. Second-trimester
ultrasound to detect fetuses with Down's
syndrome. JAMA 2001;285:1044-55 PMID: 11209176