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Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?

OBJECTIVE: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. METHODS: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic e...

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Autores principales: Christofolini, Denise Maria, Bevilacqua, Leticia Busachero, Mafra, Fernanda Abani, Kulikowski, Leslie Domenici, Bianco, Bianca, Barbosa, Caio Parente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225262/
https://www.ncbi.nlm.nih.gov/pubmed/34161437
http://dx.doi.org/10.31744/einstein_journal/2021AO5945
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author Christofolini, Denise Maria
Bevilacqua, Leticia Busachero
Mafra, Fernanda Abani
Kulikowski, Leslie Domenici
Bianco, Bianca
Barbosa, Caio Parente
author_facet Christofolini, Denise Maria
Bevilacqua, Leticia Busachero
Mafra, Fernanda Abani
Kulikowski, Leslie Domenici
Bianco, Bianca
Barbosa, Caio Parente
author_sort Christofolini, Denise Maria
collection PubMed
description OBJECTIVE: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. METHODS: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microarray analysis or arrays. RESULTS: Forty samples were analyzed using classic cytogenetics, of which 10% showed no cell growth, 50% had normal results and 40% had abnormalities. Of the 41 cases sent for array analysis it was not possible to obtain results in 7.3%, 39.5% were normal and 60.5% had abnormalities. There was no statistical difference among the results (p=0.89). Most abnormal results were seen till 9 weeks’ gestation. The later abnormal miscarriage was seen at 28 weeks’ gestation, with karyotype 46,XX,del(15)(q26.2-qter). The results are corroborated by the international literature. CONCLUSION: Classic cytogenetics and array techniques showed comparable results on the type of alteration observed. Array analysis is preferable to cell culture in delayed abortions, while cytogenetics is more able to show polyploidies. Both have the same growth failure rates when product of conception tissue is not properly collected.
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spelling pubmed-82252622021-06-25 Genetic analysis of products of conception. Should we abandon classic karyotyping methodology? Christofolini, Denise Maria Bevilacqua, Leticia Busachero Mafra, Fernanda Abani Kulikowski, Leslie Domenici Bianco, Bianca Barbosa, Caio Parente Einstein (Sao Paulo) Original Article OBJECTIVE: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. METHODS: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microarray analysis or arrays. RESULTS: Forty samples were analyzed using classic cytogenetics, of which 10% showed no cell growth, 50% had normal results and 40% had abnormalities. Of the 41 cases sent for array analysis it was not possible to obtain results in 7.3%, 39.5% were normal and 60.5% had abnormalities. There was no statistical difference among the results (p=0.89). Most abnormal results were seen till 9 weeks’ gestation. The later abnormal miscarriage was seen at 28 weeks’ gestation, with karyotype 46,XX,del(15)(q26.2-qter). The results are corroborated by the international literature. CONCLUSION: Classic cytogenetics and array techniques showed comparable results on the type of alteration observed. Array analysis is preferable to cell culture in delayed abortions, while cytogenetics is more able to show polyploidies. Both have the same growth failure rates when product of conception tissue is not properly collected. Instituto Israelita de Ensino e Pesquisa Albert Einstein 2021-06-10 /pmc/articles/PMC8225262/ /pubmed/34161437 http://dx.doi.org/10.31744/einstein_journal/2021AO5945 Text en https://creativecommons.org/licenses/by/4.0/This content is licensed under a Creative Commons Attribution 4.0 International License.
spellingShingle Original Article
Christofolini, Denise Maria
Bevilacqua, Leticia Busachero
Mafra, Fernanda Abani
Kulikowski, Leslie Domenici
Bianco, Bianca
Barbosa, Caio Parente
Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?
title Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?
title_full Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?
title_fullStr Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?
title_full_unstemmed Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?
title_short Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?
title_sort genetic analysis of products of conception. should we abandon classic karyotyping methodology?
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225262/
https://www.ncbi.nlm.nih.gov/pubmed/34161437
http://dx.doi.org/10.31744/einstein_journal/2021AO5945
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