Preimplantasyon Genetik Testler İçin Embriyo Biopsi Örneklerinin Hazırlık Protokolleri

Morales C. Current applications and controversies in preimplantation genetic testing for aneuploidies (PGT-A) in in vitro fertilization. Reproductive Sciences 2024;31(1):66–80. https://doi.org/10.1007/s43032-023-01301-0

Tikhonov AV, Krapivin MI, Malysheva OV, et al. Re-examination of PGT-A detected genetic pathology in compartments of human blastocysts: a series of 23 cases. Journal of Clinical Medicine 2024;13(11):3289. https://doi.org/10.3390/jcm13113289

Wells D, Alfarawate S, Taylor SA, et al. Evidence that differences between embryology laboratories can influence the rate of mitotic errors, leading to increased chromosomal mosaicism, with significant implications for IVF success rates. Human Reproduction 2016;31:125.

Wilton L, Thornhill A, Traeger-Synodinos J, et al. The causes of misdiagnosis and adverse outcomes in PGD. Human Reproduction 2009;24(5):1221–1228. https://doi.org/10.1093/humrep/den488

ESHRE PGT-M Working Group, Carvalho F, Moutou C, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Human Reproduction Open 2020;2020(3):hoaa018. https://doi.org/10.1093/hropen/hoaa018

Tan C, Wang X, Zou P, et al. Impact of blastocyst grading and blastocyst biopsy dates on the clinical outcomes of patients undergoing preimplantation genetic testing. Frontiers in Endocrinology 2024;15:1427922. https://doi.org/10.3389/fendo.2024.1427922

Salame A, Dahdouh EM, Zhaffal M, et al. Embryos with “No Result” after PGT-A: a retrospective analysis of causative factors. Obstetrics and Gynecology International 2025;2025:4043963. https://doi.org/10.1155/ogi/4043963

Casper RF. PGT-A: Houston, we have a problem. Journal of Assisted Reproduction and Genetics 2023;40(10):2325–2332. https://doi.org/10.1007/s10815-023-02913-w

Chang HJ, Liu X, Treff NR, et al. Discrepancy in PGT-A results among different genetic reference laboratories: how accurate are the results and are we discarding euploid embryos? Fertility and Sterility 2018;110(4):e407–e408. https://doi.org/10.1016/j.fertnstert.2018.07.1169

Basar M, Unsal E, Ergun Y. Embryology with precision: effective quality control in the in vitro fertilization laboratory. Current Opinion in Obstetrics & Gynecology 2024;36(3):200–207. https://doi.org/10.1097/GCO.0000000000000945

Bo L, Dong F, Wu Z, et al. A method for determining potential parental contamination: linkage disequilibrium-based log-likelihood ratio analysis for IVF-PGT. Reproductive Biology and Endocrinology 2024;22(1):129. https://doi.org/10.1186/s12958-024-01300-z

Capalbo A, Ubaldi FM, Cimadomo D, et al. Consistent and reproducible outcomes of blastocyst biopsy and aneuploidy screening across different biopsy practitioners: a multicentre study involving 2586 embryo biopsies. Human Reproduction 2016;31(1):199–208. https://doi.org/10.1093/humrep/dev294

Popovic M, Borot L, Lorenzon AR, et al. Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers: results from a multicenter study of 36,395 blastocysts. Human Reproduction 2024;39(1):258–274. https://doi.org/10.1093/humrep/dead213

Xu J, Chen Z, Li M, et al. Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation. Human Reproduction Open 2025;2025(2):hoaf013. https://doi.org/10.1093/hropen/hoaf013

Osman EK, Neal SA, Tiegs AW, et al. Consistency in rates of diagnosis of embryonic mosaicism, segmental abnormalities, and “no call” results among experienced embryologists performing preimplantation genetic testing for aneuploidy. F&S Reports 2020;1(2):119–124. https://doi.org/10.1016/j.xfre.2020.05.005

Liu S, Chen Z, Liang Y, et al. Optimization of tubing method of biopsy samples during preimplantation genetic testing. Advances in Clinical and Experimental Medicine 2020;29(11):1355–1361. https://doi.org/10.17219/acem/127679

McCord B, Pionzio A, Thompson R. Analysis of the Effect of a Variety of PCR Inhibitors on the Amplification of DNA Using Real Time PCR, Melt Curves and STR Analysis (1st ed.). Washington, D.C.: U.S. Department of Justice, National Criminal Justice Reference Service; 2015.

Coll L, Parriego M, Carrasco B, et al. The effect of trophectoderm biopsy technique and sample handling on artefactual mosaicism. Journal of Assisted Reproduction and Genetics 2022;39(6):1333–1340. https://doi.org/10.1007/s10815-022-02453-9

Vaiarelli A, Zacà C, Spadoni V, et al. Clinical and laboratory key performance indicators in IVF: a consensus between the Italian Society of Fertility and Sterility and Reproductive Medicine (SIFES-MR) and the Italian Society of Embryology, Reproduction and Research (SIERR). Journal of Assisted Reproduction and Genetics 2023;40:1479–1494. https://doi.org/10.1007/s10815-023-02792-1

García-Pascual CM, Navarro-Sánchez L, Navarro R, et al. Optimized NGS approach for detection of aneuploidies and mosaicism in PGT-A and imbalances in PGT-SR. Genes 2020;11(7):724. https://doi.org/10.3390/genes11070724

Morales C. Current applications and controversies in preimplantation genetic testing for aneuploidies (PGT-A) in in vitro fertilization. Reproductive Sciences 2024;31(1):66–80. https://doi.org/10.1007/s43032-023-01301-0

Tikhonov AV, Krapivin MI, Malysheva OV, et al. Re-examination of PGT-A detected genetic pathology in compartments of human blastocysts: a series of 23 cases. Journal of Clinical Medicine 2024;13(11):3289. https://doi.org/10.3390/jcm13113289

Wells D, Alfarawate S, Taylor SA, et al. Evidence that differences between embryology laboratories can influence the rate of mitotic errors, leading to increased chromosomal mosaicism, with significant implications for IVF success rates. Human Reproduction 2016;31:125.

Wilton L, Thornhill A, Traeger-Synodinos J, et al. The causes of misdiagnosis and adverse outcomes in PGD. Human Reproduction 2009;24(5):1221–1228. https://doi.org/10.1093/humrep/den488

ESHRE PGT-M Working Group, Carvalho F, Moutou C, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Human Reproduction Open 2020;2020(3):hoaa018. https://doi.org/10.1093/hropen/hoaa018

Tan C, Wang X, Zou P, et al. Impact of blastocyst grading and blastocyst biopsy dates on the clinical outcomes of patients undergoing preimplantation genetic testing. Frontiers in Endocrinology 2024;15:1427922. https://doi.org/10.3389/fendo.2024.1427922

Salame A, Dahdouh EM, Zhaffal M, et al. Embryos with “No Result” after PGT-A: a retrospective analysis of causative factors. Obstetrics and Gynecology International 2025;2025:4043963. https://doi.org/10.1155/ogi/4043963

Casper RF. PGT-A: Houston, we have a problem. Journal of Assisted Reproduction and Genetics 2023;40(10):2325–2332. https://doi.org/10.1007/s10815-023-02913-w

Chang HJ, Liu X, Treff NR, et al. Discrepancy in PGT-A results among different genetic reference laboratories: how accurate are the results and are we discarding euploid embryos? Fertility and Sterility 2018;110(4):e407–e408. https://doi.org/10.1016/j.fertnstert.2018.07.1169

Basar M, Unsal E, Ergun Y. Embryology with precision: effective quality control in the in vitro fertilization laboratory. Current Opinion in Obstetrics & Gynecology 2024;36(3):200–207. https://doi.org/10.1097/GCO.0000000000000945

Bo L, Dong F, Wu Z, et al. A method for determining potential parental contamination: linkage disequilibrium-based log-likelihood ratio analysis for IVF-PGT. Reproductive Biology and Endocrinology 2024;22(1):129. https://doi.org/10.1186/s12958-024-01300-z

Capalbo A, Ubaldi FM, Cimadomo D, et al. Consistent and reproducible outcomes of blastocyst biopsy and aneuploidy screening across different biopsy practitioners: a multicentre study involving 2586 embryo biopsies. Human Reproduction 2016;31(1):199–208. https://doi.org/10.1093/humrep/dev294

Popovic M, Borot L, Lorenzon AR, et al. Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers: results from a multicenter study of 36,395 blastocysts. Human Reproduction 2024;39(1):258–274. https://doi.org/10.1093/humrep/dead213

Xu J, Chen Z, Li M, et al. Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation. Human Reproduction Open 2025;2025(2):hoaf013. https://doi.org/10.1093/hropen/hoaf013

Osman EK, Neal SA, Tiegs AW, et al. Consistency in rates of diagnosis of embryonic mosaicism, segmental abnormalities, and “no call” results among experienced embryologists performing preimplantation genetic testing for aneuploidy. F&S Reports 2020;1(2):119–124. https://doi.org/10.1016/j.xfre.2020.05.005

Liu S, Chen Z, Liang Y, et al. Optimization of tubing method of biopsy samples during preimplantation genetic testing. Advances in Clinical and Experimental Medicine 2020;29(11):1355–1361. https://doi.org/10.17219/acem/127679

McCord B, Pionzio A, Thompson R. Analysis of the Effect of a Variety of PCR Inhibitors on the Amplification of DNA Using Real Time PCR, Melt Curves and STR Analysis (1st ed.). Washington, D.C.: U.S. Department of Justice, National Criminal Justice Reference Service; 2015.

Coll L, Parriego M, Carrasco B, et al. The effect of trophectoderm biopsy technique and sample handling on artefactual mosaicism. Journal of Assisted Reproduction and Genetics 2022;39(6):1333–1340. https://doi.org/10.1007/s10815-022-02453-9

Vaiarelli A, Zacà C, Spadoni V, et al. Clinical and laboratory key performance indicators in IVF: a consensus between the Italian Society of Fertility and Sterility and Reproductive Medicine (SIFES-MR) and the Italian Society of Embryology, Reproduction and Research (SIERR). Journal of Assisted Reproduction and Genetics 2023;40:1479–1494. https://doi.org/10.1007/s10815-023-02792-1

García-Pascual CM, Navarro-Sánchez L, Navarro R, et al. Optimized NGS approach for detection of aneuploidies and mosaicism in PGT-A and imbalances in PGT-SR. Genes 2020;11(7):724. https://doi.org/10.3390/genes11070724