Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

ABSTRACT:

Background

Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal diagnosis of PA, we conducted a retrospective study of our 11-year experiences at a single center.

Methods

We accumulated data from 78 pregnancies from 58 families referred to our center and provided prenatal diagnosis by directed genetic analysis and/or metabolite measurement using tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) of amniotic fluid (AF) samples.

Results

Sixty-five unaffected fetuses (83.33%) and 13 affected fetuses (16.67%) were confirmed in our study. The characteristic metabolites including propionyl

SUBMITTER: Dai M 

PROVIDER: S-EPMC7539428 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature