Fetal Echogenic intracardiac focus (EIF)
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An echogenic intracardiac focus (EIF) is a small white spot (as bright as bone) seen in the baby’s heart during an ultrasound examination.[1]. 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 [5].

Some studies have shown that a baby is is more likely to have Down syndrome when an EIF  is seen if the mother is

 

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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]

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 baby.

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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: 10.3109/00016349.2010.485631.
PMID:20521868

REFERENCES

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. 2003;22:783-787.
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: 19933476
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 Med. 2002;21:1087-1096.
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


Updated 1/4/2013

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