The finding of midtrimester open mouth and third-trimester hypertrophic cardiomyopathy may be associated with infantile-onset Pompe disease (PD), according to a recently published study in the Taiwanese Journal of Obstetrics & Gynecology.

Enzyme replacement therapy (ERT) has led to a significant improvement in the prognosis of patients with PD, allowing longer survival and potential improvement in motor function. Evidence shows that an early beginning of treatment improves the results of ERT. This highlights the importance of developing tools for adequate prenatal screening of PD, Yan-Lin Li, of the Guangzhou Women and Children’s Medical Center affiliated with the Guangzhou Medical University in Guangdong, China, and colleagues noted.

“The prenatal detection of infantile-onset PD is important because early prenatal diagnosis can allow parents more time to make [decisions], and late prenatal diagnosis can allow the immediate medical treatment of the newborn, “ the authors wrote.

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Although variant analysis can be completed in the first trimester by chorionic villus samples, it requires clarification of the variants with the confirmation of inheritance from the parents. Therefore, early diagnosis in patients without a familiar history of PD can be challenging, the researchers noted.

The authors aimed to determine ultrasonographic markers with potential utility in prenatal PD diagnosis through a retrospective study utilizing data from 13 patients with infantile-onset PD. Of the 13 included patients, 12 were born at term and had normal vaginal deliveries. There was no sex preponderance in the study. 

Regarding first-trimester screening, 12 patients had no ultrasound anomalies. However, second-trimester screening revealed a persistent open mouth in 2 patients during weeks 23 and 24. Third-trimester screening revealed cardiac hypertrophy in 5 cases, which represented a sensitivity of approximately 38%.

The authors hypothesize that persistent open mouth could be caused by macroglossia, a common finding in infants with PD. Cardiopathy is a known hallmark of infantile-onset PD.

All of the included patients died before reaching 9 months of age. PD diagnosis was performed through exon sequencing after birth in all cases.


Li Y-L, Zhen L, Pan M, Li D-Z. Retrospective analysis of prenatal ultrasound of children with Pompe diseaseTaiwan J Obstet Gynecol. Published online November 6, 2022. doi:10.1016/j.tjog.2022.07.008