Usefulness of Postnatal Echocardiography in Patients with Omphaloceles Who Previously Had a Normal Fetal Echocardiogram

Background: Neonates with omphaloceles routinely have a transthoracic echocardiogram (TTE) performed due to a high association with congenital heart defects (CHD). Utility of a TTE in these patients with a normal fetal echocardiogram is unknown. Primary objective of this study was to determine if a critical CHD diagnosis was missed inpatients with an omphalocele who previously had a normal fetal echocardiogram. Secondary objective of this study was to determine if any CHD diagnosis was missed postnatally when a fetal echocardiogram was read as normal.

Methods: Retrospective chart review of patients with omphaloceles born between 1/1/2008 and 12/31/2020 was performed. Patients were included if they had a fetal echocardiogram that was read as normal and also had a postnatal echocardiogram performed. Baseline demographics, postnatal data echocardiographic findings, and hospital course were collected. Critical CHD was defined as CHD requiring neonatal cardiac intervention.

Results: Fifty-six fetal echocardiograms on patients with omphaloceles were performed, of which 24 patients met the inclusion criteria. No patient was diagnosed with a critical CHD postnatally, negative predictive value (NPV) = 100%. Two patients were diagnosed with ventricular septal defects (VSD) postnatally, NPV = 91.7%. One of the VSDs required closure with a patch at 4 months of life while the other, a small muscular VSD, closed spontaneously within the first year of life. Both patients had a murmur on exam during their initial hospital stay. The patient that required surgery also had an abnormal electrocardiogram and chest x-ray. There were no mortalities due to cardiac causes in these patients.

Conclusion: Critical CHD was not missed on any patient with an omphalocele who had a normal fetal echocardiogram. All other patients with omphaloceles who had CHD diagnosed postnatally had an abnormal clinical finding on postnatal evaluation. The need for a routine postnatal TTE on patients with an omphalocele who had a normal fetal echocardiogram may not be needed in those with a normal clinical work-up. Further studies evaluating echocardiographic imaging recommendations are needed to maximize care and optimize resource allocation in this complex patient population.