Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation
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R J Wanders1, R B Schutgens, H van den Bosch
1Department of Pediatrics, University Hospital of Amsterdam, The Netherlands.
Insights
Prenatal diagnosis for inherited very-long-chain fatty acid (VLCFA) oxidation disorders is now reliable. Monitoring VLCFA levels in fetal cells can identify affected infants, enabling early intervention for these severe genetic conditions.
Area of Science:
- Biochemistry
- Genetics
- Peroxisomal disorders
Background:
- Inherited diseases impairing peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFAs) cause severe neurological and physical abnormalities.
- These peroxisomal disorders often lead to early childhood death.
Purpose of the Study:
- To evaluate the reliability of prenatal diagnosis for inborn errors of peroxisomal beta-oxidation.
- To assess the effectiveness of monitoring VLCFA levels and beta-oxidation in fetal cells.
Main Methods:
- Monitoring of eleven high-risk pregnancies.
- Measurement of very-long-chain fatty acid (VLCFA) levels.
- Assay of VLCFA beta-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells.
Main Results:
- Five fetuses with affected peroxisomal beta-oxidation were identified.
- Prenatal diagnosis was successfully achieved for these severe inherited metabolic disorders.
Conclusions:
- Prenatal diagnosis for inherited peroxisomal beta-oxidation disorders is reliable.
- Cultured chorionic villous fibroblasts and amniotic fluid cells are suitable for prenatal diagnosis.
Abstract:
In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal beta-oxidation of very-long-chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal beta-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid beta-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells.