GlobalDiagnosis and screening
MPS VII is the most common lysosomal disease among genetic causes of fluid buildup in unborn babies
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Researchers pooled the results of 41 studies. Exome testing had been done in 558 pregnancies in which fluid had built up in the unborn baby. A lysosomal storage disease was found in 27 pregnancies. 14 of these were MPS VII, also called Sly syndrome. It was common for the mother and father to be related. The rate of recurrence in the same family was high.
What does it mean for patients and families?
If there is unexplained fluid buildup in an unborn baby, MPS VII should also be considered. This is a review study. Families can ask their doctor about genetic counseling.
Source
Scientific paper: Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. Orphanet Journal of Rare Diseases, 2025. DOI: 10.1186/s13023-025-03851-9 · PubMed 40640912
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Sly syndrome (MPS VII)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.