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Donald School Journal of Ultrasound in Obstetrics and Gynecology


Within the last decade, two significant events have contributed to the increasing interest in early fetal echocardiography. First, the introduction of high-frequency vaginal ultrasound probes allows detailed visualization of cardiac structures at early stage of gestation, making early detection of fetal malformations possible. Second, the close relationship observed between some first trimester sonographic and Doppler markers and congenital heart defects allows an early identification of a high-risk group at 11 to 14 weeks of gestation. In this context, from the early 1990s, many authors have examined the potential role of the transvaginal (TV) approach to obtain earlier diagnosis of fetal cardiac malformations. Further studies have appeared in the literature showing that early TV echocardiography in experienced hands is a fairly sensitive investigative tool. Although some malformations are detected as early as 11 weeks gestation, the optimal gestational age to perform the early scan is at least 13 weeks gestation. Transvaginal ultrasound is the preferred approach, although most of the authors agree that results can be improved if transabdominal ultrasound is also incorporated. The further application of color Doppler enhances visualization. The sensitivity and specificity of early fetal echocardiography for the detection of heart anomalies is acceptable compared with the ones obtained by midgestational echocardiography, showing a slight reduction in detection rates and an increase in false-positive and false-negative rates. The cardiac anomalies detected at this early stage of pregnancy are mainly defects involving the four-chamber view, indicating that defects solely affecting the outflow tracts are difficult to diagnose in the first trimester of pregnancy. Heart defects diagnosed early in pregnancy tend to be more complex than those detected later, with a higher incidence of associated structural malformations, chromosomal abnormalities, and spontaneous abortions. The neonate follow-up or postmortem examination in case of termination of pregnancy is essential to assess the actual role of early fetal echocardiography. At present, early fetal echocardiography is a promising technique, which can be of considerable value for patients at high risk. This technique is, however, currently limited to a few specialized centers.
The aim of this review is to explore the possibilities of examining the fetal heart at this early stage of pregnancy. This article also presents our experience in the first multicenter trial in early fetal echocardiography performed in Spain. In accordance with other studies, this experience stresses the usefulness of early echocardiography when performed by expert operators on fetus specifically at risk for cardiac defects. Our review of these additional 48 cases contributes to the expanding literature on the ability of TV ultrasonography to detect fetal heart defects in early pregnancy.

Keywords: Congenital heart defects, Doppler, Fetal echocardiography, Transvaginal scan.

How to cite this article: Comas C, Prats P. Early Fetal Echocardiography. Donald School J Ultrasound Obstet Gynecol 2017;11(1):29-43.

Source of support: Nil

Conflict of interest: None

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