Retrospective analysis of prenatal ultrasound of children with Pompe disease
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 med...
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| Main Authors: | , , , |
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| Format: | Book |
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Elsevier,
2022-11-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 1028-4559 10.1016/j.tjog.2022.07.008 |