A number of inborn errors of metabolism have been associated with hydrops fetalis, and some centers screen affected patients for lysosomal storage disease. Could you describe which screening tests you use for affected patients?

To learn more about lysosomal disorders, see OMMBID Part 16: Chapters 134-154.

Thank you very much for your contribution.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator