什麼是PGT-A檢測?
PGT-A是一種對胚胎進行的染色體篩檢,用以辨識染色體數目是否異常(非整倍體)。
我們的次世代定序技術讓我們能夠分析全部24種染色體。在進行胚胎著床前偵測染色體異常,可在資訊充足的情況下做出決定,並提高懷孕成功率。
檢測流程
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7個工作天即可得到報告
PGT-A是一種對胚胎進行的染色體篩檢,用以辨識染色體數目是否異常(非整倍體)。
我們的次世代定序技術讓我們能夠分析全部24種染色體。在進行胚胎著床前偵測染色體異常,可在資訊充足的情況下做出決定,並提高懷孕成功率。
獨立研究曾經比較我們的PGT- A檢測與其他實驗室的檢測,關鍵比較如下:
MitoScore是Igenomix研發的粒線體生物標記(mitochondrial biomarker),讓我們能夠有一個胚胎活力狀態的指標。
MitoScore讓我們能夠選擇著床成功率最高的胚胎,因此較有可能透過IVF / PGT-A得到可能的妊娠結果。*
*(Diez-Juan et al. 2015)
臨床轉譯的研究是整合mtDNA拷貝數(MitoScore)與PGT-A常規的遺傳分析
偽陽性:胚胎可能會被進行不必要的排除,但機率很小
偽陰性:被診斷為正常的胚胎有可能仍有極小的機率是異常染色體
2. PGT-A只能檢測胚胎切片,而不是整個胚胎
3. 無法偵測與遺傳物質增減無關的染色體結構異常
4. 染色體增減低於10Mb
5. 鑲嵌程度低(<30%)
6. 單親二體症(UDP)
7. 影響完整染色體組的異常(單倍體、三倍體)
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.