Ha T T Nguyen, Tam T M Luu, Linh T Đo, Tri C Nguyen, Diem T N Nguyen, Trang T M Ho, Hoa Giang, Thuy T H Dao, Bao G Huynh, Tuong M Ho, Lan N Vuong
{"title":"在胚泡培养基中使用无细胞DNA进行非整倍体植入前基因检测。","authors":"Ha T T Nguyen, Tam T M Luu, Linh T Đo, Tri C Nguyen, Diem T N Nguyen, Trang T M Ho, Hoa Giang, Thuy T H Dao, Bao G Huynh, Tuong M Ho, Lan N Vuong","doi":"10.1007/s10815-025-03510-9","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>This study evaluated the performance of preimplantation genetic testing for aneuploidies (PGT-A) using cell-free DNA (cfDNA) from spent culture media (SCM) of blastocyst embryos (non-invasive PGT-A; NiPGT-A) compared with conventional trophectoderm (TE) biopsy samples.</p><p><strong>Methods: </strong>This prospective study was conducted at IVFMD, My Duc Hospital, Vietnam, from August to December 2020, and included patients with an indication for PGT-A. The culture medium was replaced on day 3, and SCM from day 3 to the day of TE biopsy (days 5 or 6) of all biopsied blastocysts was tested using next-generation sequencing. The total concordance rate, sensitivity, and specificity of NiPGT-A versus PGT-A for detecting aneuploid embryos were calculated. Outcomes after single blastocyst transfer are also reported.</p><p><strong>Results: </strong>Forty-four couples participated; 100 paired TE PGT-A biopsies and SCM samples were evaluated. The whole-genome amplification success rate for SCM was 82%; 77 samples had clear NGS results and were further evaluated. The total concordance rate between NiPGT-A and PGT-A was 63.6%. For detecting aneuploidy, NiPGT-A had a sensitivity of 57.1%, specificity of 67.3%, positive predictive value of 50.0%, and negative predictive value of 73.3%. Of the 35 single euploidy embryo transfers, 8 had no NiPGT-A results, 21 were classified as NiPGT-A euploid, and 6 were classified as NiPGT-A aneuploid; the live birth rate was 51.4% (18/35). Four of the 6 NiPGT-A aneuploid blastocysts resulted in live births.</p><p><strong>Conclusions: </strong>cfDNA in SCM has the potential for NiPGT-A. However, the NiPGT-A process is unreliable enough to replace traditional PGT-A using TE biopsy.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2587-2595"},"PeriodicalIF":2.7000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423013/pdf/","citationCount":"0","resultStr":"{\"title\":\"Non-invasive preimplantation genetic testing for aneuploidy using cell-free DNA in blastocyst culture medium.\",\"authors\":\"Ha T T Nguyen, Tam T M Luu, Linh T Đo, Tri C Nguyen, Diem T N Nguyen, Trang T M Ho, Hoa Giang, Thuy T H Dao, Bao G Huynh, Tuong M Ho, Lan N Vuong\",\"doi\":\"10.1007/s10815-025-03510-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>This study evaluated the performance of preimplantation genetic testing for aneuploidies (PGT-A) using cell-free DNA (cfDNA) from spent culture media (SCM) of blastocyst embryos (non-invasive PGT-A; NiPGT-A) compared with conventional trophectoderm (TE) biopsy samples.</p><p><strong>Methods: </strong>This prospective study was conducted at IVFMD, My Duc Hospital, Vietnam, from August to December 2020, and included patients with an indication for PGT-A. The culture medium was replaced on day 3, and SCM from day 3 to the day of TE biopsy (days 5 or 6) of all biopsied blastocysts was tested using next-generation sequencing. The total concordance rate, sensitivity, and specificity of NiPGT-A versus PGT-A for detecting aneuploid embryos were calculated. Outcomes after single blastocyst transfer are also reported.</p><p><strong>Results: </strong>Forty-four couples participated; 100 paired TE PGT-A biopsies and SCM samples were evaluated. The whole-genome amplification success rate for SCM was 82%; 77 samples had clear NGS results and were further evaluated. The total concordance rate between NiPGT-A and PGT-A was 63.6%. For detecting aneuploidy, NiPGT-A had a sensitivity of 57.1%, specificity of 67.3%, positive predictive value of 50.0%, and negative predictive value of 73.3%. Of the 35 single euploidy embryo transfers, 8 had no NiPGT-A results, 21 were classified as NiPGT-A euploid, and 6 were classified as NiPGT-A aneuploid; the live birth rate was 51.4% (18/35). Four of the 6 NiPGT-A aneuploid blastocysts resulted in live births.</p><p><strong>Conclusions: </strong>cfDNA in SCM has the potential for NiPGT-A. However, the NiPGT-A process is unreliable enough to replace traditional PGT-A using TE biopsy.</p>\",\"PeriodicalId\":15246,\"journal\":{\"name\":\"Journal of Assisted Reproduction and Genetics\",\"volume\":\" \",\"pages\":\"2587-2595\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423013/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Assisted Reproduction and Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10815-025-03510-9\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Assisted Reproduction and Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10815-025-03510-9","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/21 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Non-invasive preimplantation genetic testing for aneuploidy using cell-free DNA in blastocyst culture medium.
Purpose: This study evaluated the performance of preimplantation genetic testing for aneuploidies (PGT-A) using cell-free DNA (cfDNA) from spent culture media (SCM) of blastocyst embryos (non-invasive PGT-A; NiPGT-A) compared with conventional trophectoderm (TE) biopsy samples.
Methods: This prospective study was conducted at IVFMD, My Duc Hospital, Vietnam, from August to December 2020, and included patients with an indication for PGT-A. The culture medium was replaced on day 3, and SCM from day 3 to the day of TE biopsy (days 5 or 6) of all biopsied blastocysts was tested using next-generation sequencing. The total concordance rate, sensitivity, and specificity of NiPGT-A versus PGT-A for detecting aneuploid embryos were calculated. Outcomes after single blastocyst transfer are also reported.
Results: Forty-four couples participated; 100 paired TE PGT-A biopsies and SCM samples were evaluated. The whole-genome amplification success rate for SCM was 82%; 77 samples had clear NGS results and were further evaluated. The total concordance rate between NiPGT-A and PGT-A was 63.6%. For detecting aneuploidy, NiPGT-A had a sensitivity of 57.1%, specificity of 67.3%, positive predictive value of 50.0%, and negative predictive value of 73.3%. Of the 35 single euploidy embryo transfers, 8 had no NiPGT-A results, 21 were classified as NiPGT-A euploid, and 6 were classified as NiPGT-A aneuploid; the live birth rate was 51.4% (18/35). Four of the 6 NiPGT-A aneuploid blastocysts resulted in live births.
Conclusions: cfDNA in SCM has the potential for NiPGT-A. However, the NiPGT-A process is unreliable enough to replace traditional PGT-A using TE biopsy.
期刊介绍：
The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species.
The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
