Advances in pre implantation genetic tests: literature review

Authors

DOI:

https://doi.org/10.33448/rsd-v10i15.23103

Keywords:

DGPI; Bioethics; In vitro fertilization; Assisted Reproduction.

Abstract

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.

References

Asif, A., Mushtaq, S., Hassan, U., Akhtar, N., Hussain, M., Azam, M. & Qazi, R. (2018) Fluorescence in Situ Hybridization (FISH) for Differential Diagnosis of Soft Tissue Sarcomas. Asian Pacific journal of cancer prevention, 19(3), 655 – 660.

Beyazyürek, Ç. & Kahraman, S. (2012) Invasive techniques: Aneuploidy testing by FISH. A practical guide to selecting gametes and embryos. Cap. 17, p. 241-253.

Blais, J., Lavoie, S. B., Giroux, S., Bussières, J., Lindsay, C., Dionne, J., Laroche, M., Giguère, Y. & Rousseau, F. (2015) Risk of misdiagnosis due to allele dropout and false-positive PCR artifacts in molecular diagnostics. The Journal of Molecular Diagnostics, 17(5), 505-514.

Chaitankar, V., Karakülah, G., Ratnapriya, R., Giuste, F. O., Brooks, M. J. & Swaroop, A. (2016) Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research. Progress in Retinal and Eye Research Journal, 55, 1-31.

Chen, L., Diao, Z., Xu, Z., Zhou, J., Yan, G. & Sun, H. (2017) The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease. Systems Biology in Reproductive Medicine, 63(3), 212-217.

Christoff, A. P. (2017) Genômica e sequenciamento de nova geração. Marcadores Moleculares na Era Genômica: Metodologias e Aplicações, Cap. 2, p. 21-50, 2017.

Dondorp, W. & Wert, G. (2018) Refining the ethics of preimplantation genetic diagnosis: a plea for contextualizated proporcionality. Bioethics, 33(2), 294-301.

Dreesen, J., Destouni, A., Kourklaba, G., Degn, B., Mette, W. C., Carvalho, F., Moutou, C., Sengupta, S., Dhanjal, S., Renwick, P., Davies, S., Kanavakis, E., Harton, G. & Traeger-Synodinos, J. (2013) Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. European Journal of Human Genetics, 22(8), 1012-1018.

Ferreira, I. E. R. (2017) O avanço da genética no contexto da reprodução humana: uma revisão de literatura. Revista Interdisciplinar Ciências e Saúde, 4(2), 61-70.

Foo, P. C., Nakian, A. B. N., Muhamad, N. A., Ahamad, A., Mohaned, M., Yean, C. Y. & Lim, B. H. (2020) Loop-mediated isothermal amplification (LAMP) reaction as viable PCR substitute for diagnostic applications: a comparative analysis study of LAMP, conventional PCR, nested PCR (nPCR) and real-time PCR (qPCR) based on Entamoeba histolytica DNA derived from faecal sample. BMC Biotechnology, 20(34), 1-15.

Freitas, M., Pinto, J., Ramalho, C. & Dória, S. (2018) Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization. Porto Biomedical Journal, 3(2), 1-6.

Gonçalves, G. P., Neto, J. M. S., Pereira, I. L., Cardozo, M. L., Marinho, M. D., Estrela, M. R. A. & Arruda, J. T. (2019) Implicações do diagnóstico genético pré-implantação na análise dos erros inatos do metabolismo na prática clínica. RESU – Revista Educação em Saúde, 7(1), 311-316.

Govidarajan, R., Duraiyan, J., Kaliyappan, K. & Palanisamy, M. (2012) Microarray and its applications. Journal of Pharmacy and BioAllied Sciences, 4(6), 310-312.

Griffin, D. K., Handyside, A. H., Peneketh, R. J.A., Winston, R. M. L. & Delhanty, J. D. A. (1991) Fluorescent in- situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. Revista Human Reproduction, 6, 101-105.

Grifo, J. A., Tang, Y. X., Cohen, J., Gilberti, F., Sanyal, M. K. & Rosenwaks, Z. (1992) Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes. The Journal of the American Medical Association, 268, 727-729.

Goodwin, S., Mcpherson, J. D. & Mccombie, W. R. (2016) Coming of age: ten years of next generation sequencing technologies. Nature Reviews Genetics, 17, 333-351.

Guerra, M. G. R. M. & Cardin, V. S. G. (2019) Do diagnóstico genético pré-implantacional para a seleção de embriões com fins terapêuticos: uma análise do bebê-medicamento. Revista da Faculdade de Direito da UERJ, (35), 60-77.

Handyside, A. H. (2011) PGD and aneuploidy screening for 24 chromosomes by genome-wide SPN analysis: seeing the wood and the trees. Reproductive BioMedicine Online, 23, 686-691.

Harper, J. C. & Sengupta, S. B. (2011) Preimplantation genetic diagnosis: State of the ART 2011. Human Genetics Journal, 131, 175-186.

Harper, J. C., Wilton, L., Traeger-Synodinos, J., Goossens, V., Moutou, C., Sengupta, S. B., Budak, T. P., Renwick, P., Rycke, M., Geraedts, J. P. M. & Harton, G. (2012) The ESHRE PGD Consortiun: 10 year of data collection. Human Reproductive Updates, 18(3), 234-247.

Harton, G. L., De Rycke, M., Fiorentino, F., Moutou, C., Sengupta, S., Traeger-Synodinos, J. & Harper, J. C. (2011) ESHRE PGD consortium best practice guidelines for amplification-based PGD. Human Reproduction, 26(1), 33-40.

Lima, C. V. T. C. & Silva, H. B. (2017) Resolução nº2.168 de 21 de setembro de 2017. Diário oficial da União, edição 216, seção 1, p. 73.

Marambio, J. T. & Alcántara, M. J. S. (2018) Ethical problems with the preimplantation genetic diagnosis of human embryos. Acta Biomedica, 24(1), 75-83.

Melo-Martín, I. (2019) The challenge for medical ethicists: weighing pros and cons of advanced reproductive technologies to screen human embryos during IVF. Human Embryos and Preimplantation Genetic Technologies: Ethical, Social and Public Policy Aspects. Capítulo 1, p. 1-10.

Mocellin, S., Rossi, C. R., Pilati, P., Nitti, D. & Marincola, F. M. (2003) Quantitative real-time PCR: a powerful ally in cancer research. TRENDS in Molecular Medicine, 9(8), 189-195.

Montazeri, F., Foroughmand, A. M., Kalantar, S. M., Aflatoonian, A. & Khalilli, M. A. (2018) Tips and tricks in Fluorescence In-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis/Screening (PGD/PGS). International Journal of medical Laboratory, 5, 84-98.

Moreira, R. V., Reis, V. M. S., Souza, C. H. M., Cabral, R. B. & Ribeiro, L. M. T. B. (2017) Reprodução humana assistida: relação entre ciência e sociedade face à bioética. Interdisciplinary Scientific Journal, 5(4), artigo 17.

Moutou, C., Gardes, N. & Viville, S. (2002) Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis. European Journal of Human Genetics, 10, 231-238.

Munnes, S., Fung, J., Cassel, M. J., Marquez, C. & Weier, H. U. G. (1998) Preimplantation genetic analysis of translocations: case – specific probes for interphase cell analysis. Jornal Hum Genet, 102, 663-674.

Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia da pesquisa científica. UFSM. https://repositorio.ufsm.r/bitstream/handle/1/15824/Lic_Computacao_Metodologia-Pesquisa-Cientifica. Pdf.

Peters, I. R., Helps, C. R., Hall, E. J. & Day, M. J. (2004) Real-time RT-PCR: considerations for efficient and sensitive assay design. Journal of Immunological Methods, 286, 203-207.

Pizzato, B. R., Pacheco, C. M. R., Ferreira, L. S. & Verzeletti, F. C. (2017) Revisão das técnicas de biologia molecular aplicadas no diagnóstico genético pré-implantacional e uma reflexão ética. Sociedade Brasileira de Reprodução Humana. Revista Reprodução e Climatério, 32(1), 7–14.

Pompeu, T.N. & Verzeletti, F.B. (2015) Diagnostico Genético Pré-Implantacional e Sua Aplicação na Reprodução Humana Assistida. Sociedade Brasileira de Reprodução Humana. Revista Reprodução e Climaterio, 30(2), 83-89.

Proetti, S. (2018). As pesquisas qualitativa e quantitativa como métodos de investigação científica: Um estudo comparativo e objetivo. Revista Lumen ISSN: 2447-8717, 2 (4). 10.32459/revistalumen.v2i4.60.

Rechitsky, S., Strom, C., Verlinsky, O., Amet, T., Ivakhnenko, V., Kukharenko, V., Kuliev, A. & Verlinsky, Y. (1998) Allele dropout in polar bodies and blastomeres. Journal of Assisted Reproduction and Genetics, 15(5), 253-257.

Sermon, K. (2002) Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist´s view. Human Reproduction, 8(1), 11-20.

Shestak, A. G., Bukaeva, A. A., Saber, S. & Zaklyazminskaya, E. V. (2021) Allelic dropout is a common phenomenon that reduces the disgnostic yield of PCR-based sequencing of targeted gene panels. Frontiers in Genetics, 12, 1-7.

Simpson, J. L., Rechitsky, S. & Kuliev, A. (2003) Next-generation sequencing for preimplantation genetic diagnosis. Fertility and Sterility Journal, 99(5), 1203-1204.

Simpsion, J.L., Kuliev, A. & Rechitsky, S. (2019) Oerview of Preimplantation Genetic Diagnosis (PGD): Historical Perpective and Future Direction. Revista Prenatal Diagnosis. Methods in Molecular Biology, 1885, 23-38.

Sobrino, B. & Carracedo, A. (2005) SNP Typing in forensic genetics. Methods in molecular biology: Forensic DNA typing protocols, 297(8),107-126.

South, S. T., Lee, C., Lamb, A. N., Higgings, A. W. & Kearney, H. M. (2013) ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genetics in Medicine, 15(11), 901-909.

Stosic, M., Levy, B., Wapner, R. (2017) The use of chromosomal microarray analysis in prenatal diagnosis. Obstetrics and Gynecology Clinics of North America Journal.

Sullivan-Pyke, C. & Dokras, A. (2018) Preimplantation genetic screening and preimplantation genetic diagnosis. Revista Obstetrics and Gynecology Clinics of North America, 45(1), 113-125.

Treff, N. R., Tao, X., Ferry, K. M., Su, J., Taylor, D. & Scott, R. T. (2012) Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Seminal Contribution, 97(4), 819-842.

Turchetto-Zolet, A. C., Turchetto, C., Guzman, F., Silva-Arias, G. A., Sperb-Ludwing, F. & Veto, N. M. (2017) Polimorfismo de Nucleotídeo Único (SNP): metodologias de identificação, análise e aplicações. Marcadores Moleculares na Era Genômica: Metodologias e Aplicações, Cap. 8, 132-179.

Verlinsky, Y., Cieslak, J., Ivakhnenko, V., Wolf, G., Kovalinskaya, L., White, M., Lifchez, A., Kaplan, B., Moise, J., Valle, J., Ginberg, N., Strom, C. & Kuliev, A. (1995) Pregnancies following pré- conception diagnosis of common aneuploidies by fluorescent in- situ hybridization. Revista Molecular Human Reproduction, 1, 265-269.

Verlinsky, Y., Cohen, J., Munne, S., Gianaroli, L., Simpson, J. L., Ferrareti, A. P. & Kuliev, A. (2004) Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertility and Sterility, 82(2), 292-294.

Verlinsky, Y., Ginsberg, N., Lifchez, A., Valle, J., Moise, J. & Strom, C.M. (1990) Analysis of the polar body: preconception genetic diagnosis. Revista Human Reproduction, 5, 826-839.

Vettorato, J. G., Müller, N. T. G. & Silva, D. H. (2019) Bioética: vida humana como objeto de experiência científica. Revista Interdisciplinar de Ciências Aplicadas, 4(7).

Yohe, S. & Thyagarajan, B. (2017) Review of clinical next-generation sequencing. Archives of Pathology & Laboratory Medicine, 141, 1544-1557.

Published

29/11/2021

How to Cite

SCAPIN, B. de A.; MESQUITA, C. C. de; PADILHA, R. T. .; PADILHA, D. de M. M. . Advances in pre implantation genetic tests: literature review. Research, Society and Development, [S. l.], v. 10, n. 15, p. e429101523103, 2021. DOI: 10.33448/rsd-v10i15.23103. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/23103. Acesso em: 22 dec. 2024.

Issue

Section

Review Article