Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum

Area of Science:

• Medical Genetics
• Fetal Medicine
• Congenital Anomalies

Background:

• Ectopia cordis (EC) is a rare congenital anomaly characterized by the displacement of the heart outside the chest cavity.
• It is frequently associated with significant cardiac defects and extracardiac malformations, impacting fetal development.

Purpose of the Study:

• To investigate the diverse clinical presentations of ectopia cordis diagnosed at a single center.
• To analyze the timing of diagnosis and associated anomalies in fetuses with EC between 2010 and 2017.

Main Methods:

• Retrospective analysis of fetal cases diagnosed with ectopia cordis.
• Review of diagnostic findings, including ultrasound and postnatal evaluations.
• Correlation of EC with pregnancy type (singleton vs. multiple) and gestational age at diagnosis.

Main Results:

• Seven fetuses with EC were identified from six pregnancies, with five diagnosed in the first trimester.
• Abdominal wall defects were present in six fetuses; other anomalies included kyphoscoliosis, cephalocele, clubfoot, and short umbilical cord.
• The majority of affected fetuses (6/7) did not survive, with outcomes including termination, intrauterine demise, and early neonatal death.

Conclusions:

• Ectopia cordis is associated with a very poor fetal outcome.
• Early identification of EC and associated anomalies is feasible in the first trimester, aiding in management decisions.
• EC can occur in multiple gestations, including monochorionic-monoamniotic twins, highlighting the importance of careful evaluation in these pregnancies.