Prenatal diagnosis of propionic acidemia

Area of Science:

• Biochemistry
• Genetics
• Medical Diagnostics

Background:

• Propionic acidemia (PA) is an organic acidemia requiring early diagnosis.
• Prenatal diagnosis has been crucial for managing pregnancies at risk of PA.
• Advances in molecular genetics have improved diagnostic capabilities.

Purpose of the Study:

• To summarize the experience with prenatal diagnosis of propionic acidemia since 1987.
• To evaluate diagnostic methods for propionic acidemia in at-risk pregnancies.
• To highlight the current gold standard for prenatal diagnosis of PA.

Main Methods:

• Investigated 25 pregnancies at risk for propionic acidemia from 19 unrelated families.
• Utilized metabolite quantitation and enzymatic assays in fetal tissue for early diagnoses.
• Employed direct propionyl-CoA carboxylase activity assay and molecular analysis in chorionic villi for recent diagnoses.

Main Results:

• Successfully diagnosed propionic acidemia in 25 pregnancies across 19 families.
• Demonstrated the efficacy of metabolite and enzymatic assays prior to full genetic elucidation.
• Established the direct propionyl-CoA carboxylase activity assay with molecular analysis as a reliable method.

Conclusions:

• Prenatal diagnosis of propionic acidemia has been successfully performed since 1987.
• Metabolite and enzymatic assays were effective in the absence of complete genetic information.
• Direct propionyl-CoA carboxylase assay combined with molecular analysis is the current method of choice for prenatal diagnosis of PA.