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 whic h 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 EK G (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 c atheter 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 f...
Source: Mammalian Genome - Category: Genetics & Stem Cells Source Type: research