The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
2011
Objective
To develop a novel, rapid prenatal assay for pregnancies with high likelihood of normal karyotypes, using BACs-on-Beads™ technology, a suspension array-based multiplex assay that employs Luminex® xMAP® technology, for the detection of gains and losses in chromosomal DNA.
Methods
Fifteen relatively common microdeletions were selected that are not detectable, or may be missed, by karyotyping and usually do not present with abnormal ultrasound findings. Chromosomes 13, 18, 21, X, and Y were included. We validated the assay with 430 samples.
Results
All microdeletions and aneuploidies were correctly identified, except for a 69,XXX incorrectly identified as a normal female and a male with ∼20% maternal cell contamination (MCC) that could not be distinguished from 69,XXY. MCC became apparent at 20 to 30%. Mosaicism was identified at 30 to 35% abnormal cells.
Conclusion
We have developed an alternative to fluorescence in situ hybridization (FISH) aneuploidy screening and microarray analysis in otherwise normal pregnancies undergoing invasive testing. We demonstrated that the assay will detect all microdeletions and aneuploidies of regions covered on the assay. We developed analytical software that displays results for well-characterized syndromes but not abnormalities of unclear clinical significance. This assay is likely to be preferred by women seeking testing beyond routine karyotyping but who desire more information than provided by aneuploidy FISH. Copyright © 2011 John Wiley & Sons, Ltd.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
22
References
38
Citations
NaN
KQI