Retrospective analysis of prenatal ultrasound of children with Pompe disease

Abstract

ObjectiveThe aim of this retrospective study is to determine the prenatal ultrasound markers of patients diagnosed postnatally with infantile-onset Pompe disease (IOPD). Materials and methodsThis is a retrospective study of cases with a postnatal diagnosis of IOPD during a 5-year period. The medical file of the patients with IOPD was reviewed, and data regarding especially pregnancy were collected. ResultsSecond trimester fetal sonographic anatomical scan was performed in all 13 cases during pregnancy. Two cases (15.4%) were found to have a persistently open mouth at 23 weeks and 24 weeks, respectively. Serials follow-up ultrasound examinations demonstrated the same findings in the two cases. Third trimester ultrasound was also performed in all cases. Large heart was found in five cases (38.5%), and fetal echocardiography confirmed hypertrophic cardiomyopathy. ConclusionOur results indicate that a mid-trimester open mouth and third-trimester hypertrophic cardiomyopathy are the prenatal findings associated with the disorder of IOPD.