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Updated: Sep 27, 2026
Fluorescence in situ hybridization (FISH) Protocol in Human Sperm
Published on: September 1, 2009
Fluorescence in situ hybridization for the detection of aneuploidy from archived fetal cells
L E Wilkins-Haug1, M M Sandstrom, S Weremowicz
1Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Background:
In perinatal settings, fluorescence in situ hybridization has the potential to provide specific chromosome evaluation when full karyotype analysis is not possible because there are no dividing cells.
Case:
Based on clinical features, cases of fetal and neonatal demise were selected for evaluation with chromosome-specific probes. Sources of nondividing cells included deparaffinated tissue sections, disaggregated tissue biopsies, and archived, Giemsa-stained slides.
Conclusion:
Diagnostic information was obtained by fluorescence in situ hybridization in three settings: 1) postmortem trisomy 21 identification from paraffin sections following unsuccessful tissue culture, 2) postmortem trisomy 18 confirmation in disaggregated cells from macerated fetal tissues, and 3) retrospective documentation of a cryptic deletion (22q-) in archived metaphase spreads. We encourage familiarity by obstetricians with fluorescence in situ hybridization for chromosomal assessment using archived fetal material.
