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Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions
Vaidehi Jobanputra1, Antonio Sobrino, Ann Kinney
1Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
Human Reproduction (Oxford, England)
|May 1, 2002
Summary
Multiplex fluorescence in-situ hybridization (FISH) effectively screens uncultured tissues for chromosome abnormalities in spontaneous abortions. This method improves detection rates, especially when cell cultures fail or are contaminated.
Area of Science:
- Genetics
- Reproductive Medicine
- Cytogenetics
Background:
- Chromosome abnormalities are a major cause of spontaneous abortion.
- Traditional karyotyping requires cultured cells, which can fail or be overgrown by maternal cells.
- Developing rapid screening methods for uncultured tissues is crucial.
Purpose of the Study:
- To evaluate a multiplex fluorescence in-situ hybridization (FISH) strategy for detecting chromosome abnormalities in uncultured spontaneous abortion tissues.
- To compare the efficacy of FISH with traditional karyotyping in this context.
Main Methods:
- Fifty-seven spontaneous abortion specimens were analyzed using both karyotyping of cultured cells and FISH on uncultured cells.
- Two multiplex FISH probe sets were employed, targeting chromosomes 13, 15, 16, 18, 21, 22, X, and Y.
Main Results:
- FISH detected abnormalities in 54% of cases, compared to 53% by karyotyping.
- FISH successfully identified abnormalities in cases with failed cultures (4/5) and maternal cell overgrowth (2 cases).
- FISH identified 83% of abnormalities found by karyotyping, missing only those not covered by the probe sets.
Conclusions:
- Multiplex FISH is a valuable tool for initial screening of uncultured spontaneous abortion tissues, particularly when culture methods are compromised.
- Combining multiplex FISH as an initial screen with subsequent karyotyping for normal results offers a higher detection rate of chromosome abnormalities than karyotyping alone.