Related Experiment Videos
cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling
E Zammarchi1, A Lippi, S Falorni
1Pediatric Department, University of Florence, Italy.
Insights
This study assessed nutrient uptake in a fetus at risk for cblC disease, finding normal propionate and leucine incorporation. Further testing confirmed the fetus was unaffected, but recommended confirmatory amniocentesis due to biopsy variability.
Area of Science:
- Biochemistry
- Genetics
- Prenatal Diagnostics
Background:
- CblC disease is a severe metabolic disorder affecting nutrient processing.
- Prenatal diagnosis is crucial for timely intervention.
- Chorionic villus sampling (CVS) is an early diagnostic method, but its accuracy can be variable.
Observation:
- This study investigated propionate and leucine uptake in chorionic villus samples from a fetus at risk for cblC disease.
- The ratio of propionate to leucine incorporation was analyzed in the at-risk sample and compared to control samples.
Findings:
- The at-risk sample showed a propionate to leucine incorporation ratio of 3.85 +/- 0.27.
- Control samples exhibited ratios of 2.8 +/- 0.14 and 3.1 +/- 0.15.
- Subsequent analyses, including methylmalonic acid levels and fibroblast studies, confirmed the fetus was unaffected by cblC disease.
Implications:
- The findings suggest that while nutrient uptake studies can provide insights, variability exists in chorionic villus biopsy results.
- Confirmation of CVS results with amniocentesis is recommended for cblC disease risk assessment.
- Accurate prenatal diagnosis is vital for managing metabolic disorders and ensuring optimal fetal health outcomes.
Abstract:
We have studied the uptake of both propionate and leucine in a chorionic villus sample from a fetus at risk for cblC disease. The ratio of propionate to leucine incorporation (x 10(-3] was 3.85 +/- 0.27 (n = 8) in the at risk sample, and 2.8 +/- 0.14, and 3.1 +/- 0.15 (n = 4) in two control samples. The finding of an unaffected fetus was confirmed by the absence of methylmalonic acid in amniotic fluid or maternal urine in the second trimester, and after birth by study of cultured fibroblasts from the baby. Because of the reported variability in propionate incorporation in chorionic villus biopsies, however, we recommend that chorionic villus sampling be confirmed by amniocentesis.