Chromosomal and cardiac anomalies in fetuses with intracardiac echogenic foci

• Published in: International journal of gynecology and obstetrics 2006-11, Vol.95 (2), p.132-137
• Main Authors: Gonçalves, T.R.M., Zamith, M.M., Murta, C.G.V., Bussamra, L.C., Torloni, M.R., Moron, A.F.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aneuploidy; Biological and medical sciences; Brazil - epidemiology; Chromosome aberrations; Cross-Sectional Studies; Down syndrome; Down Syndrome - diagnostic imaging; Down Syndrome - epidemiology; Down Syndrome - genetics; Echocardiography, Doppler, Color; Female; Fetal aneuploidy; Fetal Diseases - diagnostic imaging; Fetal Diseases - epidemiology; Fetal Diseases - genetics; Fetal heart; Gynecology. Andrology. Obstetrics; Heart Defects, Congenital - diagnostic imaging; Heart Defects, Congenital - epidemiology; Heart Defects, Congenital - genetics; Humans; Intracardiac echogenic focus; Karyotypic abnormality; Karyotyping; Maternal Age; Medical genetics; Medical sciences; Pregnancy; Retrospective Studies; Ultrasonography, Prenatal; Ultrasound
• ISSN: 0020-7292; 1879-3479
• DOI: 10.1016/j.ijgo.2006.06.020

To evaluate the prevalence of intracardiac echogenic foci (ICEF) and the association between ICEF and chromosomal and cardiac anomalies in Brazilian women. In a cross-sectional observational study, 373 of the 23,360 genetic sonograms performed at a private maternal–fetal medicine clinic over 5 years showed intracardiac echogenic foci (ICEF). These 373 sonograms were reviewed for chromosomal and cardiac anomalies and associations were analyzed using the χ 2 test or the Fisher exact test. P < 0.05 was considered significant. The prevalence of ICEF was 1.7%. Cardiac anomalies were detected in 10 sonograms (2.7%) and chromosomal anomalies in 14 (3.7%). There were cardiac defects in 6 (1.7%) of the 359 euploid fetuses with isolated ICEF. Of the 373 women who had fetuses with ICEF, 295 were younger than 35 years and 78 were 35 years or older. There were 6 fetuses (2.1%) with aneuploidy in the younger group and 8 (10.3%) in the older group. The prevalence of ICEF was 1.7%, and there was an association between cardiac and chromosomal anomalies. Women carrying fetuses with ICEF should be offered fetal echocardiography and karyotyping.