The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies
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Date
2023-05-12Corporate Author(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Patología
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Type
Artículo de revista
ISSN
2229-3817 / 2229-3833 (Electrónico)
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Abstract
Introduction: Chromosome abnormalities are an important cause of fetal and perinatal deaths. Molecular testing can be a useful tool in
preconception counseling in selected families. However, such testing is neither routine nor mandatory at many healthcare centers; a number
of factors can contribute to the lack of genetic and chromosome diagnoses.
Materials and methods: We performed an observational analytical study on 42 paraffin-embedded samples from fetal autopsy tissue with
the suspected chromosomal disorder; we tested the efficacy of the fluorescence in situ hybridization (FISH) probe to ascertain the presence of
common chromosome abnormalities.
Results: Use of the FISH technique in paraffin-embedded tissue has been standard practice in oncopathology; there now exists standardization of
these probes in fetal and neonatal tissue. Our study analyzes various difficulties we encountered with the FISH probe when used for chromosome
abnormalities diagnoses in fetal autopsies, and we conclude with pertinent recommendations for improving test outcomes.
Conclusion: Simultaneous occurrence of chromosome disorders and advanced maceration is common; maceration interferes with the proper
performance of the FISH test; however, we view this diagnostic tool as appropriately functional when used under specific conditions.
Keywords
AbortionAnatomic pathology
Birth defects
Fetal diseases
Fluorescence in situ hybridization
Neonatal–perinatal medicine
Spontaneous
Spatial coverage (cities)
Bogotá (Colombia)Spatial coverage
ColombiaTemporary coverage
2012–2013Link to the resource
https://www.ijifm.com/abstractArticleContentBrowse/IJIFM/13/14/2/32409/abstractArticle/ArticleSource
International Journal of Infertility and Fetal Medicine; Volumen 14 Número 2 , Páginas 70 - 74 (2023)
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