[tri-wings] FYI - Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions

I am forwarding this article or URL for your information (FYI) as I believe
it may be of interest and is from a reliable source. As always, check the
information with your own doctor or health care professional before starting
or changing any treatments.

Human Reproduction, Vol. 17, No. 5, 1166-1170, May 2002
© 2002 European Society of Human Reproduction and Embryology

Multiplex interphase FISH as a screen for common aneuploidies in spontaneous
abortions
Vaidehi Jobanputra1, Antonio Sobrino2, Ann Kinney3, Jennie Kline4 and
Dorothy Warburton5,6

1 Department of Anatomy, All India Institute of Medical Sciences, New Delhi,
India,
2 Genetics Laboratory, New York Presbyterian Hospital, Columbia-Presbyterian
Center, New York, USA,
3 Research Foundation for Mental Hygiene, New York State Psychiatric
Institute and Graduate School of Arts and Sciences, Columbia University,
USA,
4 Epidemiology of Developmental Brain Disorders Department, New York State
Psychiatric Institute, Gertrude H. Sergievsky Center and Department of
Epidemiology at Mailman School of Public Health, Columbia University, New
York, USA and
5 Departments of Genetics and Development, and Pediatrics, Columbia
University, New York, USA

BACKGROUND: A multiplex fluorescence in-situ hybridization (FISH) strategy
using chromosome-specific probes for eight chromosomes as an initial screen
for chromosome abnormalities in uncultured tissues from spontaneous
abortions was evaluated. METHODS: Fifty-seven prefetal spontaneous abortions
were studied by karyotyping cultured cells and using FISH on uncultured
cells. Two probe sets were used, identifying chromosomes 13, 15, 16, 18, 21,
22, X and Y. RESULTS: Abnormalities were detected in 53% of cases by
karyotyping, and 54% of cases by FISH. FISH detected an abnormality in four
of five cases where cultures failed, and in two cases where maternal cells
apparently overgrew the culture. FISH missed four trisomies not identifiable
with the probe sets, and one trisomy because one probe set was unscorable.
FISH using these probes identified 83% of all abnormalities detected by
karyotyping. CONCLUSIONS: FISH can detect abnormalities in a significant
proportion of cases where the culture fails to grow or is contaminated by
maternal cell growth. Multiplex FISH as an initial screen, followed by
culture and karyotyping in cases where no abnormality is detected, would
identify a higher proportion of chromosome abnormalities in spontaneous
abortion specimens than karyotype analysis alone.


Key Words: aneuploidy . karyotyping . multiplex FISH . spontaneous abortion


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