Prenatal Diagnosis of Mucopolysaccharidosis Type I: A Case Report
Author Information
Author(s): Agranier Maxime, Demurger Florence, Dubourg Christele, Fromageot Jerome, Dufour Anne-Sophie Cabaret, Launay Erika, Gournay Magalie, Lefèvre Charles, Froissart Roseline, Pettazzoni Magali, Rollier Paul
Primary Institution: Rennes University Hospital, Rennes, France
Hypothesis
Can prenatal ultrasound findings lead to the diagnosis of mucopolysaccharidosis type I?
Conclusion
This case highlights the importance of genomic analyses in diagnosing rare conditions during pregnancy.
Supporting Evidence
- Mucopolysaccharidosis type I is a rare autosomal recessive lysosomal storage disorder.
- Prenatal diagnosis of MPS I was confirmed by the deficiency of α-L-iduronidase activity in amniotic cells.
- The couple elected for a medical termination of pregnancy due to the severe prognosis.
Takeaway
Doctors found a rare disease in a baby before it was born by looking at special signs in an ultrasound and doing genetic tests.
Methodology
Whole exome sequencing and enzymatic analysis were performed after amniocentesis.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
A pregnant woman at 26.5 gestational weeks with no significant personal or family histories.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website