Prenatal sonographic diagnosis of ectopia cordis

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. © 1999 John Wiley & Sons, Inc. J Clin Ultrasound 27:440–445, 1999.

Cantrell Syndrome—A Rare Complex Congenital Anomaly: A Case Report and Literature Review

“…Similarly, Desselle et al suggested that the correlation between 2D and 3D examination is useful in surgical management in such newborns ( 2 ). The earliest prenatal diagnosis of CS is reported to have been established between 9 and 11 gestational weeks ( 18 , 19 ). Unfortunately, in our case, the thoracic wall defect was suspected only at 35 gestational weeks.…”

Sonographic diagnosis of ectopia cordis before 9 weeks of gestation

“…This series documents three cases of ectopia cordis detected before 9 weeks of gestation. According to a recent review of the literature describing 17 cases of ectopia cordis diagnosed in the first trimester, the earliest diagnosis was made at 9 weeks in an embryo with a CRL of 28 mm . Our three cases were detected even earlier, in embryos with CRLs ranging from 10 to 21 mm.…”

Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis

“…Pentalogy of Cantrell remains a disease with poor prognosis; nonetheless, survival to adulthood with mild thoracoabdominal abnormalities has been reported. Patients with both PC and EC have even worse prognosis [3]. Less than 5% of patients with isolated EC survive [7].…”

“…Additionally, although not part of the classic PC, some severe cases have been associated with herniation of the heart through the diaphragmatic defect, resulting in ectopia cordis (EC) [2]. Such a diagnosis carries a disastrous prognosis without surgical correction or palliation [3]. Furthermore, miscellaneous intracardiac abnormalities even worsen the survival.…”