Fragile X Syndrome Testing and the Limitations Associated with Current Maternal Cell Contamination Testing Strategies
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2016, Vol 17, Issue 11
Abstract
Aims: To assess the level of maternal cell contamination (MCC) that can be detected in the molecular determination of triplet repeat expansions in the FMR1 gene. Place and Duration of Study: Department of Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand, between June 2013 and July 2015. Methodology: We assessed the sensitivity of a fluorescence-based assay for determining the number of CGG repeats in the FMR1 gene in a simulated MCC using spiked samples of known concentrations. This assay was applied to a prenatal case to resolve the question as to whether the CGG alleles detected in the fetal sample were inherited or due to MCC. Results: The simulated MCC study showed that detection levels range from 0.5% to as low as 0.1%. Conclusion: Collectively, our data support the view that future MCC guidelines should address the need for increased MCC testing sensitivity to accompany Fragile X syndrome prenatal testing.
Authors and Affiliations
Philippa A. Dryland, Annet Damhuis, Douglas I. Rosendale, Kimberley Hughes, Elaine Doherty, Donald R. Love
Keywords
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- EP ID EP341534
- DOI 10.9734/BJMMR/2016/28769
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