Advances in pre implantation genetic tests: literature review

Detalhes bibliográficos
Autor(a) principal: Scapin, Beatriz de Araujo
Data de Publicação: 2021
Outros Autores: Mesquita, Catherine Caldas de, Padilha, Rodrigo Tenório, Padilha, Deborah de Melo Magalhães
Tipo de documento: Artigo
Idioma: por
Título da fonte: Research, Society and Development
Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/23103
Resumo: The development of pre-implantation genetic technologies allows us to identify hereditary genetic anomalies, perform screening for mutations and, previously analyze the viability of an embryo, including knowing the embryonic genetic compatibility with that of a person already born and sick, who need a compatible donor. Preimplantation genetic tests consist of a set of techniques, performed after the in vitro fertilization (IVF) process and before embryo implantation. Due to the scarcity of articles in the Brazilian literature on the subject, a literature review was developed, which aims to explain the advances that have taken place in the last 30 years in tests used for preimplantation genetic diagnosis (PGD), clarifying and presenting their protocols. For this, the main adopted techniques were selected, namely Nested PCR, Multiplex PCR, qPCR, FISH, aCGH, SNP's, NGS Ion Torrent, and Illumina, in addition to contextualizing the chronology of the tests and presenting the entire ethical context that involves them. For this purpose, 48 references were used in English, Portuguese, and Spanish, mostly dating from 2017 to 2021. It is a fact that the DGPI provides a great advance in the field of assisted reproduction and allows women of advanced age or recurrent history of abortion, in addition to people with genetic abnormalities, to have the DNA of their embryos analyzed before its implantation, allowing the identification of mutations that could affect the baby's health and guaranteeing its compatibility with life.
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spelling Advances in pre implantation genetic tests: literature reviewAvances em pruebas genéticas pre implantacionales: revisión de la literaturaAvanços em testes genéticos pré-implantacionais: revisão de literatura DGPIBioéticaFertilização in vitroReprodução Assistida.DGPIBioéticaFertilización in vitroReproducción asistida.DGPIBioethicsIn vitro fertilizationAssisted Reproduction.The development of pre-implantation genetic technologies allows us to identify hereditary genetic anomalies, perform screening for mutations and, previously analyze the viability of an embryo, including knowing the embryonic genetic compatibility with that of a person already born and sick, who need a compatible donor. Preimplantation genetic tests consist of a set of techniques, performed after the in vitro fertilization (IVF) process and before embryo implantation. Due to the scarcity of articles in the Brazilian literature on the subject, a literature review was developed, which aims to explain the advances that have taken place in the last 30 years in tests used for preimplantation genetic diagnosis (PGD), clarifying and presenting their protocols. For this, the main adopted techniques were selected, namely Nested PCR, Multiplex PCR, qPCR, FISH, aCGH, SNP's, NGS Ion Torrent, and Illumina, in addition to contextualizing the chronology of the tests and presenting the entire ethical context that involves them. For this purpose, 48 references were used in English, Portuguese, and Spanish, mostly dating from 2017 to 2021. It is a fact that the DGPI provides a great advance in the field of assisted reproduction and allows women of advanced age or recurrent history of abortion, in addition to people with genetic abnormalities, to have the DNA of their embryos analyzed before its implantation, allowing the identification of mutations that could affect the baby's health and guaranteeing its compatibility with life.El desarrollo de tecnologías genéticas preimplantacionales nos permite identificar anomalías genéticas hereditarias, realizar cribado de mutaciones y analizar previamente la viabilidad de un embrión, incluyendo conocer la compatibilidad genética embrionaria con la de una persona ya nacida y enferma, que necesita un donante compatible. Las pruebas genéticas preimplantacionales consisten en un conjunto de técnicas, realizadas después del proceso de fertilización in vitro (FIV) y antes de la implantación del embrión. Debido a la escasez de artículos en la literatura brasileña sobre el tema, se desarrolló una revisión de la literatura, que tiene como objetivo explicar los avances que se han producido en los últimos 30 años en las pruebas utilizadas para el diagnóstico genético preimplantacional (DGP), aclarando y presentando sus protocolos. Para ello, se seleccionaron las principales técnicas adoptadas, a saber, PCR anidada, PCR multiplex, qPCR, FISH, aCGH, SNP's, NGS Ion Torrent e Illumina, además de contextualizar la cronología de las pruebas y presentar todo el contexto ético que las involucra. Para ello se utilizaron 48 referencias en inglés, portugués y español, en su mayoría datadas de 2017 a 2021. Es un hecho que la DGPI aporta un gran avance en el campo de la reproducción asistida y permite a mujeres en edad avanzada o antecedentes recurrentes de aborto, además de personas con anomalías genéticas, tener analizado el ADN de sus embriones antes de su implantación, permitiendo la identificación de mutaciones que pudieran afectar la salud del bebé y garantizando su compatibilidad con la vida.O desenvolvimento das tecnologias genéticas pré-implantacionais nos permite, hoje, identificar anomalias genéticas hereditárias, realizar triagem em busca de mutações e analisar previamente a viabilidade de um embrião, inclusive conhecer a compatibilidade genética embrionária com a de uma pessoa já nascida e doente, que necessite de um doador compatível. Os testes genéticos pré-implantacionais consistem em um conjunto de técnicas, realizadas após o processo de Fertilização in vitro (FIV) e antes da implantação do embrião. Devido à escassez de artigos na literatura brasileira sobre o assunto, foi desenvolvida uma revisão de literatura, que tem como objetivo explanar sobre os avanços que ocorreram nos últimos 30 anos nos testes utilizados para o diagnóstico genético pré-implantacional (DGPI), esclarecendo e apresentando seus protocolos. Para isso, foram selecionadas as principais técnicas adotadas, sendo elas Nested PCR, Multiplex PCR, qPCR, FISH, aCGH, SNP’s, NGS Ion Torrent e Illumina, além de contextualizar a cronologia dos testes e apresentar todo o contexto ético que os envolve. Para tanto, foram utilizadas 48 referências de língua inglesa, portuguesa e espanhola, em sua maioria datadas entre 2017 a 2021. É fato que o DGPI confere um grande avanço no campo da reprodução assistida e possibilita mulheres com idade avançada ou histórico recorrente de aborto, além de pessoas com anomalias genéticas, terem o DNA de seus embriões analisados antes de sua implantação, permitindo identificar mutações que poderão afetar a saúde do bebê e garantindo a sua compatibilidade com a vida.Research, Society and Development2021-11-29info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/2310310.33448/rsd-v10i15.23103Research, Society and Development; Vol. 10 No. 15; e429101523103Research, Society and Development; Vol. 10 Núm. 15; e429101523103Research, Society and Development; v. 10 n. 15; e4291015231032525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/23103/20467Copyright (c) 2021 Beatriz de Araujo Scapin; Catherine Caldas de Mesquita; Rodrigo Tenório Padilha; Deborah de Melo Magalhães Padilha https://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessScapin, Beatriz de Araujo Mesquita, Catherine Caldas de Padilha, Rodrigo Tenório Padilha, Deborah de Melo Magalhães 2021-12-06T10:13:53Zoai:ojs.pkp.sfu.ca:article/23103Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:42:04.597664Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false
dc.title.none.fl_str_mv Advances in pre implantation genetic tests: literature review
Avances em pruebas genéticas pre implantacionales: revisión de la literatura
Avanços em testes genéticos pré-implantacionais: revisão de literatura
title Advances in pre implantation genetic tests: literature review
spellingShingle Advances in pre implantation genetic tests: literature review
Scapin, Beatriz de Araujo
DGPI
Bioética
Fertilização in vitro
Reprodução Assistida.
DGPI
Bioética
Fertilización in vitro
Reproducción asistida.
DGPI
Bioethics
In vitro fertilization
Assisted Reproduction.
title_short Advances in pre implantation genetic tests: literature review
title_full Advances in pre implantation genetic tests: literature review
title_fullStr Advances in pre implantation genetic tests: literature review
title_full_unstemmed Advances in pre implantation genetic tests: literature review
title_sort Advances in pre implantation genetic tests: literature review
author Scapin, Beatriz de Araujo
author_facet Scapin, Beatriz de Araujo
Mesquita, Catherine Caldas de
Padilha, Rodrigo Tenório
Padilha, Deborah de Melo Magalhães
author_role author
author2 Mesquita, Catherine Caldas de
Padilha, Rodrigo Tenório
Padilha, Deborah de Melo Magalhães
author2_role author
author
author
dc.contributor.author.fl_str_mv Scapin, Beatriz de Araujo
Mesquita, Catherine Caldas de
Padilha, Rodrigo Tenório
Padilha, Deborah de Melo Magalhães
dc.subject.por.fl_str_mv DGPI
Bioética
Fertilização in vitro
Reprodução Assistida.
DGPI
Bioética
Fertilización in vitro
Reproducción asistida.
DGPI
Bioethics
In vitro fertilization
Assisted Reproduction.
topic DGPI
Bioética
Fertilização in vitro
Reprodução Assistida.
DGPI
Bioética
Fertilización in vitro
Reproducción asistida.
DGPI
Bioethics
In vitro fertilization
Assisted Reproduction.
description The development of pre-implantation genetic technologies allows us to identify hereditary genetic anomalies, perform screening for mutations and, previously analyze the viability of an embryo, including knowing the embryonic genetic compatibility with that of a person already born and sick, who need a compatible donor. Preimplantation genetic tests consist of a set of techniques, performed after the in vitro fertilization (IVF) process and before embryo implantation. Due to the scarcity of articles in the Brazilian literature on the subject, a literature review was developed, which aims to explain the advances that have taken place in the last 30 years in tests used for preimplantation genetic diagnosis (PGD), clarifying and presenting their protocols. For this, the main adopted techniques were selected, namely Nested PCR, Multiplex PCR, qPCR, FISH, aCGH, SNP's, NGS Ion Torrent, and Illumina, in addition to contextualizing the chronology of the tests and presenting the entire ethical context that involves them. For this purpose, 48 references were used in English, Portuguese, and Spanish, mostly dating from 2017 to 2021. It is a fact that the DGPI provides a great advance in the field of assisted reproduction and allows women of advanced age or recurrent history of abortion, in addition to people with genetic abnormalities, to have the DNA of their embryos analyzed before its implantation, allowing the identification of mutations that could affect the baby's health and guaranteeing its compatibility with life.
publishDate 2021
dc.date.none.fl_str_mv 2021-11-29
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/23103
10.33448/rsd-v10i15.23103
url https://rsdjournal.org/index.php/rsd/article/view/23103
identifier_str_mv 10.33448/rsd-v10i15.23103
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/23103/20467
dc.rights.driver.fl_str_mv https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Research, Society and Development
publisher.none.fl_str_mv Research, Society and Development
dc.source.none.fl_str_mv Research, Society and Development; Vol. 10 No. 15; e429101523103
Research, Society and Development; Vol. 10 Núm. 15; e429101523103
Research, Society and Development; v. 10 n. 15; e429101523103
2525-3409
reponame:Research, Society and Development
instname:Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
instname_str Universidade Federal de Itajubá (UNIFEI)
instacron_str UNIFEI
institution UNIFEI
reponame_str Research, Society and Development
collection Research, Society and Development
repository.name.fl_str_mv Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)
repository.mail.fl_str_mv rsd.articles@gmail.com
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