Retrospective analysis of prenatal ultrasound of children with Pompe disease

• Main Authors: Yan-Lin Li (Author), Li Zhen (Author), Min Pan (Author), Dong-Zhi Li (Author)
• Format: Book
• Published: Elsevier, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 1028-4559; 10.1016/j.tjog.2022.07.008
• Keywords: Pompe disease; Ultrasound; Prenatal diagnosis; GAA gene; Gynecology and obstetrics; RG1-991
• Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 6, Pp 995-998 (2022)

Objective: The aim of this retrospective study is to determine the prenatal ultrasound markers of patients diagnosed postnatally with infantile-onset Pompe disease (IOPD). Materials and methods: This 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. Results: Second 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. Conclusion: Our results indicate that a mid-trimester open mouth and third-trimester hypertrophic cardiomyopathy are the prenatal findings associated with the disorder of IOPD.