PGT-A 검사 란?
PGT-A는 배아를 구성하는 염색체의 수적 이상(이수성)을 확인하는 유전자 검사합니다.
차세대 시퀀서(NGS)를 이용한 아이지노믹스 기술로 전체 24쌍 염색체의 분석이 가능합니다. 배아 이식 전에 염색체의 수적 이상을 검출함으로써 임신율을 향상시킵니다.
검사의 절차

PGT-A는 배아를 구성하는 염색체의 수적 이상(이수성)을 확인하는 유전자 검사합니다.
차세대 시퀀서(NGS)를 이용한 아이지노믹스 기술로 전체 24쌍 염색체의 분석이 가능합니다. 배아 이식 전에 염색체의 수적 이상을 검출함으로써 임신율을 향상시킵니다.
정상적인 배아를 얻을 수 있는 비율, 결과가 나오지 않는 비율, 모자이크 판정 비율에서 다른 검사 기관보다 우수한 결과를 얻을 수 있습니다.
MitoScore는 아이지노믹스에 의해 개발 된 미토콘드리아의 바이오 마커이며, 배아의 에너지 상태의 지표가됩니다.
MitoScore를 적용하여 착상 가능성이 높은 배아를 선택할 수 있으며, PGT-A와 결합하여 체외 수정에 의한 임신 성공률을 높일수 있습니다.
Rubio et al: In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study. Fertil Steril. 2017 May;107(5):1122-1129.
Yang Z, Liu J, Collins GS, Salem SA, Liu X, Lyle SS, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet 2012 May 2; 5(1):24.
Coates A, Kung A, Mounts E, Hesla J, Bankowski B, Barbieri E, Ata B, Cohen J, Munné S. Optimal euploid embryo transfer strategy, fresh versus frozen, after Preimplantation Genetic Testing for Aneuploidies with next generation sequencing: a randomized controlled trial. Fertil Steril. 2017 Mar;107(3):723-730.e3.
Coates A, Bankowski BJ, Kung A, Griffin DK, Munne S. Differences in pregnancy outcomes in donor egg frozen embryo transfer (FET) cycles following Preimplantation Genetic Testing for Aneuploidies (PGT-A): a single center retrospective study. J Assist Reprod Genet. 2017 Jan;34(1):71-78.
Sanchez-Ribas et al., Transcriptomic behavior of genes associated with chromo some 21 aneuploidies in early embryo development. Fertility and Sterility, 2019; 111, 5:991-1001.
Goldwaser, Tamar et al. Cell-free DNA for the detection of fetal aneuploidy. Fertility and Sterility, 2018; 109, 2, 195 – 200.
Kuznyetsov V, Madjunkova S, Antes R, Abramov R, Motamedi G, Ibarrientos Z, et al. Evaluation of a novel non-invasive preimplantation genetic screening approach. PLoS ONE; 2018; 13(5): e0197262.
Munné S, Status of preimplantation genetic testing and embryo selection. RBMO. 2018; 37(4):393-396.
Levy et al., Prenatal diagnosis by chromosomal microarray analysis. Fertility and Sterility, 2017; 109, 2, 201–212.
Ottolini C. et al., Scientific Reports. Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro, 2017;7:9744.
Ottolini C. et al., Scientific Reports. Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro, 2017;7:9744.
Munné, Santiago et al. Mosaicism: “survival of the fittest” versus “no embryo left behind”. Fertility and Sterility, 2016; 105, 5, 1146 – 1149.
Bolton et al., Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nature Communications, 2016; 29;7:11165.
Cimadomo D. et al, The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis. Hindawi, 2016, 7193075.
Scott RT, Galliano D., The challenge of embryonic mosaicism in preimplantation genetic screening. Fertility and Sterility, 2016; 105, 5.
McCoy RC, Demko ZP, Ryan A, Banjevic M, Hill M, Sigurjonsson S, et al. Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development. PLoS Genet, 2015; 11 (10): e1005601.
Kung A. et al., Validation of next-generation sequencing for comprehensive chromosome screening of embryos. Reproductive BioMedicine, 2015; 1472-6483.
Greco E, Minasi MG, Fiorentino F. Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts, N Engl J Med, 2015; Nov 19;373(21):2089-90.
Yang Z et al., Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study., 2012, 5:24.