Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms

The objective of this study is to evaluate if the diagnosis of a complex congenital heart disease (CHD) was missed in a patient with Down syndrome (DS) who had a fetal echocardiogram that was read as normal. Secondary goal of this study was to determine if any CHD was missed postnatally when a fetal echocardiogram was read as normal. A retrospective chart review of children with DS at Nationwide Children’s Hospital whose birthdates were between 1/1/2010 and 12/31/2017 was performed. Patients were included if they had a fetal echocardiogram that was read as normal and also had a postnatal echocardiogram performed. One hundred twenty fetal echocardiograms on patients with DS were performed, of which 45 patients met the inclusion criteria. No patient was diagnosed with a complex CHD postnatally, with a negative predictive value = 100%. Thirteen patients were diagnosed with CHD postnatally, with a negative predictive value of 71.1%. All 13 patients had either a murmur (11) or an abnormal EKG (9). One patient died at 8 days of life due to pulmonary hypertension complications. Five patients had resolution of their CHD, 2 patients have near resolution, 2 patients are being followed for their atrial septal defects and 3 underwent intervention (septum primum surgical repair = 1, PDA catheter occlusion = 2). Complex CHD was not missed on any fetal echocardiograms performed on patients with DS. All the other patients who had CHD diagnosed postnatally had an abnormal finding on evaluation. Further studies evaluating echocardiographic imaging recommendations are needed to maximize care in this patient population.