OBJECTIVE: Ectopia cordis (EC) is a rare malformation (5-8 per million live births) characterized by an abnormal position of the heart. Based on the anatomical position it can be classified into cervical (3%), cervico-thoracic (<1%), thoracic (60%), abdominal (30%), and thoracoabdominal (7%). In the most common form the heart is partially or totally exposed on the surface of the thorax through an opening in the sternum and has an open pericardial sac. The exact etiology remain unknown, the mechanism is probably an association of genetic and environmental factors. In the early stages of embryonic development, the heart is positioned outside the chest. With the normal folding of the embryo, the heart passively assumes its final position inside the pericardial sac. During the fourth week of organogenesis, the lack of complete fusion of the lateral folds in the formation of the chest wall can cause the anomaly. Another possible mechanism is the rupture of the yolk and chorionic sac, which can lead to the formation of fibrous bands that disrupt the fusion in the midline of the chest wall. An alternative theory is the mutation of the bone morphogenetic protein (BMP2) gene that plays a vital role in heart formation and ventral body closure of the chest wall. EC can be an isolated lesion or be part of Cantrell’s pentalogy, associated with the thoraco-abdominal form. As in any fetal anomaly, if one abnormality is visualized a thorough investigation of all fetal systems should be carefully analyzed. EC can occur in conjunction with major chromosomopathies, especially trisomy 18 and Turner syndrome. METHODS: A 28-year-old primigravida patient, referred to our hospital for a request of voluntary termination of an unwanted pregnancy. During the time of conception she was in therapy with an estrogen-progestin pill for contraceptive purposes, not effective maybe due to antibiotic therapy for odontopathy. Sonography has been useful to establish the gestational age and to diagnose the ectopia cordis. The patient underwent the therapeutic abortion procedure and a cytogenetic analysis of a flap of fetal skin was performed. RESULTS: Our ultrasound examination revealed a single fetus with estimated age 17th weeks of gestation. Has been reported an isolated ectopia cordis with herniation of the heart from the right chest. The remaining fetal morphology appeared regular for the gestational age. Amniotic fluid was normal. Macroscopic anatomopathological examination resulted in a female fetus weighing 148 grams, ear cups with slightly low insertion, micrognathia and bilateral clubfoot. Examination of internal organs showed an incomplete anterior development of the diaphragm with consequent weakness and compression of the two lungs by the abdominal organs (in particular by the liver). It had been reported a complete ectopia cordis of the thorax with the heart rotated posteriorly and consequent slight torsion of the aorta and pulmonary artery. Macroscopic examination of the heart did not reveal additional malformations. A deletion of the short arm of chromosome 19 was detected in 19p13.3 band, containing the OMIM: TLE6-2-5, GNA11 and GNA15, S1PR4, NCLN. CONCLUSIONS: EC is generally severe due to the frequent fetal growth restriction and high intrauterine and perinatal mortality rate. In most cases the newborn dies a few days after birth, usually by infection, major heart failure or hypoxemia. If there are no other severe cardiac malformations, surgical therapy mostly consists of covering the heart with skin, allowing some patients to survive into adulthood. Surgical treatment has a significant mortality rate. Early diagnosis with sonography is important to identify the main defect and its associated abnormalities, then counseling the patient on outcome and treatment options. EC generally has a poor prognosis, therefore termination of pregnancy should be recommended for families. Patients with thoraco-abdominal EC appear to have better outcomes, they show a survival of 45% after a mean follow-up of 5,6 years. While thoracic type has a higher mortality rate (83%). In order to establish the possible hereditary transmission, it is possible to do the Arrey- based Comparative Genomic Hybridization test (CGH-array)to investigate the genome. There is no evidence that EC is a genetically transmitted disease, however genetic analysis can be useful to provide adequate counselling for families.