Prenatal sonographic diagnosis of ectopia cordis

Purpose. We present a small series of prenatally diagnosed cases of ectopia cordis. Methods. Four fetuses with prenatally diagnosed ectopia cordis were sonogra phically evaluated and followed up. Results. The fetuses were diagnosed with ectopia cordis at 9, 13, 21, and 2 9 weeks' menstrual age. The case diagnosed at 9 weeks is the earliest prena tal diagnosis reported, to our knowledge. The diagnoses were based on the d emonstration of a fetal heart outside the thoracic cavity with Doppler wave forms typical of intracardiac flow. One fetus had isolated ectopia cordis, and 3 had other associated anolmalies. The diagnosis was postnatally confir med in all cases. Therapeutic abortion was done in 2 cases. One infant surv ived, and the fourth died shortly after birth. Chromosome study was success fully 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, son ography provides important information for planning surgical correction. (C ) 1999 John Wiley & Sons, Inc.