Palabras clave
PGT-a
no-invasivo
niPGT-a
Cómo citar
Resumen
El Diagnóstico Genético Preimplantacional No Invasivo para Aneuploidias (niPGT-a) utiliza el ADN libre de células presente en el medio de cultivo del blastocisto para la caracterización cromosómica del embrión. El resultado del niPGT-a podría representar el contenido genómico tanto de las células de la masa celular interna como del trofoblasto, sin la necesidad de realizar una biopsia embrionaria.
El objetivo del presente reporte es describir el procedimiento con el que se logró el primer nacimiento en Argentina de un niño cuyo embrión fue caracterizado mediante esta técnica.
Citas
Rubio C, Navarro-Sánchez L, García-Pascual CM, Ocali O, Cimadomo D, Venier W, Barroso G, Kopcow L, Bahceci M, Kulmann MIR, López L, De la Fuente E, Navarro R, Valbuena D, Sakkas D, Rienzi L, Simón C. Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts. Am J Obstet Gynecol. 2020; 223:751.
Shamonki MI, Jin H, Haimowitz Z, Liu L. Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media. Fertil Steril. 2016; 106:1312-1318.
Xu J, Fang R, Chen L, Chen D, Xiao JP, Yang W, Wang H, Song X, Ma T, Bo S, Shi C, Ren J, L, Cai LY, Yao B, Xie XS, Lu S. Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization. Proc Natl Acad Sci U S A. 2016; 113:11907-11912.
Balaban B, Brison D, Calderon G, Catt J, Conaghan J, Cowan L, Ebner T, Gardner D, Hardarson T, Lundin K, Magli MC, Mortimer D, Mortimer S, Munné S, Royere R, Scott L, Smitz J, Thornhill A, van Blerkom J, Van den Abbeel E. Alpha Scientists in Reproductive Medicine and ESHRE Special Interest Group of Embryology. The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting. Hum Reprod. 2011;26: 1270–1283.
Kimelman D, Pavone ME. Non-invasive prenatal testing in the context of IVF and PGT-A. Best Pract Res Clin Obstet Gynaecol. 2021; 70:51-62.
Munné S, Nakajima ST, Najmabadi S, Sauer MV, Angle MJ, Rivas JL, Mendieta LV, Macaso TM, Sawarkar S, Nadal A, Choudhary K, Nezhat C, Carson SA, Buster JE. First PGT-A using human in vivo blastocysts recovered by uterine lavage: comparison with matched IVF embryo controls. Hum Reprod. 2020; 35:70-80.
Ahumada AO, Nieto Francisco L, Zubrzycki J, Dopazo H. Validación de un protocolo de PGTA-a no invasivo. Primera experiencia en Argentina. Congreso SAMeR. 2021. Rosario, Argentina.
Francisco Leocata Nieto F, Zubrzycki J, Dopazo H, Ahumada AO. A comparison of non-invasive and trophectoderm biopsy PGT-A. First experience in Argentina. 76th ASRM Scientific Congress. 2020. Virtual congress.
Fang R, Yang W, Zhao X, Xiong F, Guo C, Xiao J, Chen L, Song X, Wang H, Chen J, Xiao X, Yao B, Cai LY. Chromosome screening using culture medium of embryos fertilized in vitro: a pilot clinical study. J Transl Med. 2019; 17:1-8.
Wu Y, Lv Z, Yang Y, Dong G, Yu Y, Cui Y, Tong M, Wang L, Zhou Z, Zhu H, Zhou Q, Sha J. Blcolmastomere biopsy influences epigenetic reprogramming during early embryo development, which impacts neural development and function in resulting mice. Cell Mol Life Sci. 2014; 71:176174.
Zeng Y, Lv Z, Gu L, Wang L, Zhou Z, Zhu H, Zhou Q, Sha J. Preimplantation genetic diagnosis (PGD) influences adrenal development and response to cold stress in resulting mice. Cell Tissue Res. 2013; 354:729-741.
Carlson, B. Human embryology and developmental biology, 6th ed., Ed. Harcourt.
Vagnini L, Petersen CG, Renzi A, Oliveira JBA, Oliani AH, Nakano R, Almodin CG, Marcondes C, Ceschin A, Amaral A, Borges Jr E, Castelo Branco A, Soares JB, Lopes J, Franco Jr. JG. Noninvasive preimplantation genetic test for aneuploidy (NIPGT-A) has a lower false positive rate than that of the invasive PGT-A. Hum Reprod. 2020; 35:i359-60.