RESUMO

OBJECTIVE: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). METHODS: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. RESULTS: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. CONCLUSIONS: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.

Assuntos

Ectopia Cordis , Cardiopatias Congênitas , Comunicação Interventricular , Lactente , Humanos , Gravidez , Feminino , Adolescente , Ectopia Cordis/diagnóstico por imagem , Estudos Retrospectivos , Seguimentos , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal , Cardiopatias Congênitas/diagnóstico

RESUMO

Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. This is a case of a 30-year-old patient who underwent ultrasound at 9 weeks of gestation. It revealed an abnormal location of the inferior body of the embryo in the coelomic space. The findings suggested a short umbilical cord syndrome. In order to confirm the diagnosis, the patient was scheduled for a second ultrasonography at 11 weeks of gestation. The obtained images, confirmed the location of the inferior body in the coelomic space with no visible bladder, absence of the right leg, severe abdominal wall defect, consistent with an omphalocele, and a short 5 mm umbilical cord. These last ultrasonographic findings were consistent with body stalk anomaly. Because of severe malformation incompatible with life, the patient was offered termination of pregnancy. Pathologic examination confirmed the suspected pathology of body stalk anomaly.