Prenatal sonographic diagnosis of ectopia cordis

Abstract

ABSTRACT:Purpose. We present a small series of prenatally diagnosed cases of ectopia cordis.Methods. Four fetuses with prenatally diagnosed ectopia cordis were sonographically evaluated and followed up.Results. The fetuses were diagnosed with ectopia cordis at 9, 13, 21, and 29 weeks' menstrual age. The case diagnosed at 9 weeks is the earliest prenatal diagnosis reported, to our knowledge. The diagnoses were based on the demonstration of a fetal heart outside the thoracic cavity with Doppler waveforms typical of intracardiac flow. One fetus had isolated ectopia cordis, and 3 had other associated anolmalies. The diagnosis was postnatally confirmed in all cases. Therapeutic abortion was done in 2 cases. One infant survived, and the fourth died shortly after birth. Chromosome study was successfully performed in 2 cases and was normal in both of them.Conclusions. This small series suggests that ectopia cordis can be readily diagnosed in utero as early as the first trimester. Later in pregnancy, sonography provides important information for planning surgical correction.

Fetal heart scanning in the first trimester

“…Cross-sectional imaging in early pregnancy was also greatly influenced by the use of higher frequency and better resolution of transvaginal probes compared to available transabdominal ones. This has led to further reports of major heart abnormalities detected prior to 14 weeks (Carles et al, 1995;Rustico et al, 1995;Baschat et al, 1999;Chaoui et al, 2000;Tongsong et al, 1999). Subsequently, however, Yagel et al (1997) have included detailed visualization of the fetal heart when examining the fetal anatomy transvaginally before 16 weeks and have provided important data on early diagnosis of heart abnormalities and in utero natural history.…”

Sonographic diagnosis of ectopia cordis before 9 weeks of gestation

“…According to a recent review of the literature describing 17 cases of ectopia cordis diagnosed in the first trimester, 3 the earliest diagnosis was made at 9 weeks in an embryo with a CRL of 28 mm. 5 Our three cases were detected even earlier, in embryos with CRLs ranging from 10 to 21 mm. Although pathological proof of ectopia cordis was available in only one of our cases, transvaginal real-time sonography readily demonstrated the abnormal extracorporeal position of the heart in all of them.…”

Ectopia cordis: a case report

“…7 The prenatal diagnosis of ectopia cordis is carried out using ultrasound, which allows visualization of the heart outside the thoracic cavity. Diagnosis has been reported by Bick et al 8 and Tongsong et al 9 at 11 and 9 weeks of gestation, respectively. In our case, prenatal diagnosis occurred at 21 weeks of gestation.…”