Introduction: The majority of research regarding echogenic intracardiac focus (EIF) concentrates on its weak correlation with the occurrence of Down syndrome. The aim of our research was to approach this problem from a wider perspective and to find out, if the prenatal diagnosis of EIF is connected with the occurrence of other abnormalities of prenatal and postnatal period.
Materials & Methods: The data of 114 patients with prenatally diagnosed EIF were analyzed retrospectively. No fetal or neonatal chromosomal abnormalities were included.
Results: In 13/114 (11,4%) fetuses cardiological abnormalities other then EIF were diagnosed: 8/114 (7%) cases of congenital heart defects and 7/114 (6,1%) cases of tricuspid valve regurgitation. Extracardiac malformations were diagnosed in 11/114 (8,8%) of fetuses. In 7/114 (6,1%) of the cases the abnormal volume of amniotic fluid was diagnosed. In 4/114 (3,5%) of pregnancies the premature rapture of membranes (PROM) occurred. Six, 6/114 (5,3%) of pregnancies were at risk of intrauterine asphyxia in perinatal period. 12/114 (10,5%) newborns were delivered before 37th week of gestation, stillbirth occurred in 1/114 (0,9%) case. Most newborns (86/114; 75,4%) birth weight >3000g. In 19/114 (16,7%) of newborns birth weight was 2500g-3000g. In 9/114 (7,9%) of newborns birth weight was <2500g
Conclusions: Fetuses with EIF without chromosomal aberrations may present heart defects which are hard to diagnose in basic obstetrical USG scan. Therefore, those patients should be directed to prenatal cardiology facilities for evaluation of the fetal heart.
Prenatal EIF in fetuses without chromosomal aberrations may indicate low birth weight (<2500g) in the future. Further research of this matter is needed.
1. Raniga S, Desai PD, Parikh H. Ultrasonographic Soft Markers of Aneuploidy in Second Trimester: Are We Lost? Med Gen Med 2006; 8(1): 9.
2. Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR. Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy. J Ultrasound Med 1998;17(2):127-131.
3. Borgida AF1, Maffeo C, Gianferarri EA, Bolnick AD, Zelop CM, Egan JF. Frequency of echogenic intracardiac focus by race/ethnicity in euploid fetuses. J Matern Fetal Neonatal Med 2005;18(1):65-66.
4. Winn VD, Sonson J, Filly RA. Echogenic intracardiac focus: potential for misdiagnosis. J Ultrasound Med 2003;22(11):1207-1214.
5. Respondek-Liberska M. Sonograficzne markery zespołów genetycznych. Przegląd Chirurgii Dziecięcej 2009;4(2-3):29-41.
6. Coco C, Jeanty P, Jeanty C. An isolated echogenic heart focus is not an indication for amniocentesis in 12,672 unselected patients. J Ultrasound Med 2004;23(4):489-496.
7. Huang SY, Shaw SW, Cheuh HY, Cheng PJ. Intracardiac echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening. Acta Obstet Gynecol Scand 2010;89(8):1017-1023.
8. Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH. Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol 2008;31(2):132-135.
9. Koklanaris N, Roman AS, Perle MA, Monteagudo A. Isolated echogenic intracardiac foci in patients with low-risk triple screen results: assessing the risk of trisomy 21. J Perinat Med 2005;33(6):539-542.
10. Bradley KE, Santulli TS, Gregory KD, Herbert W, Carlson DE, Platt LD. An isolated intracardiac echogenic focus as a marker for aneuploidy. Am J Obstet Gynecol 2005;192(6):2021-2026; discussion 2026-2028.
11. Bethune M. Time to reconsider our approach to echogenic intracardiac focus and choroid plexus cysts. Aust N Z J Obstet Gynaecol 2008;48(2):137-141.
12. Bethune M.Management options for echogenic intracardiac focus and choroid plexus cysts: a review including Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement. Australas Radiol 2007;51(4):324-329.
13. Latos-Bieleńska A, Materna-Kiryluk A. Wrodzone wady rozwojowe w Polsce w latach 2005-2006. Dane z Polskiego Rejestru Wrodzonych Wad Rozwojowych. Wydawnictwo Naukowe Uniwersytetu Medycznego im. Karola Marcinkowskiego w Poznaniu, 2010
14. Carriço A, Matias A, Areias JC. How important is a cardiac echogenic focus in a routine fetal examination? Rev Port Cardiol 2004;23(3):459-461.
15. Liu HH, Lin MT, Chang CC, Wang JK, Wu MH, Shyu MK, Lee CN, Hsieh FJ. Postnatal outcome of fetal cardiac echogenic foci. J Formos Med Assoc 2002;101(5):329-336.
16. Wax JR, Donnelly J, Carpenter M, Chard R, Pinette MG, Blackstone J, Cartin A. Childhood cardiac function after prenatal diagnosis of intracardiac echogenic foci. J Ultrasound Med 2003;22(8):783-787.
17. Shakoor S, Ismail H, Munim S. Intracardiac echogenic focus and fetal outcome - review of cases from a tertiary care centre in Karachi, Pakistan. J Matern Fetal Neonatal Med 2013;26(1):2-4.