Prenatal Diagnosis of Ectopia Cordis

Abstract

Ectopia cordis is defined as an anomaly in which thefetal heart lies outside the thoracic cavity. It is a rarecongenital abnormality with an incidence of 5.5–7.9per 1 million live births [1]. Ectopia cordis may occuras an isolated malformation or it may be associatedwith other ventral body wall defects affecting the tho-rax, abdomen or both. The cause of ectopia cordis iscurrently unknown, and most cases are sporadic [1,2].The prognosis is poor, and most infants are stillborn ordie within the first few hours or days of life. Attemptsat surgical correction have been largely unsuccessfulowing to the extent of the associated anomalies. As aresult, when ectopia cordis is diagnosed, pregnancytermination before viability or non-aggressive manage-ment in the third trimester should be considered anddiscussed with the parents.This case report describes the sonographic diagno-sis of ectopia cordis in a fetus at 17 weeks’ gestation.A 28-year-old primigravid woman was referred toour maternal and fetal unit for detailed ultrasonogra-phy at 17 weeks’ gestation. Her husband was 34 yearsold. The patient had received no regular prenatal careand had no family history of congenital anomalies.She had taken no medication during her pregnancy.Ultrasonographic examination showed a singleton fetuswith normal amniotic fluid volume. Fetal biometrywas consistent with dates. Detailed ultrasonographyrevealed a heart situated outside the thoracic cavity(Figure 1). No abdominal, craniofacial or intracardiacabnormalities were detected, and the cardiac outflowtracts appeared normal.These findings were strongly suggestive of ectopiacordis. The parents were informed of the poor progno-sis. Genetic amniocentesis was performed and revealeda normal 46,XY karyotype.The parents opted for termination of the pregnancy.The mother aborted a 150-g male infant, withoutcomplications. Postnatal examination showed thatthe heart of the fetus was lying outside the thoraciccavity and was devoid of pericardium (Figure 2). Theplacenta and umbilical cord were unremarkable. Theparents refused autopsy.Ectopia cordis is defined as the complete or partialdisplacement of the heart outside the thoracic cavity.It is a rare congenital defect in fusion of the anteriorchest wall, resulting in an extrathoracic location of theheart. Ectopia cordis is frequently associated with othercongenital defects involving multiple organ systems.Ventricular septal defects and tetralogy of Fallot are themost common associated intracardiac defects, whileomphalocele is the most common associated abdominalwall defect. In animal models, isolated ectopia cordis