PDF(Pubmed)
Abstract：
OBJECTIVE: To evaluate whether a second biopsy, following a first diagnostic failure on blastocysts tested for preimplantation genetic testing for monogenic diseases (PGT-M), allows to obtain genetic diagnosis and to what extent this procedure can influence clinical pregnancy and live birth rates compared to the PGT-M process with a successful genetic diagnosis from the first biopsy.
METHODS: Embryos from women who underwent PGT-M in an infertility centre and who had been transferred after two biopsies for genetic analysis (n = 27) were matched in a 1:1 ratio accordingly to women\'s age (± 1 year) and fertility status (fertile vs infertile), as well as with the study period, with embryos who were transferred after receiving a conclusive PGT result straight after the first biopsy (n = 27). The main evaluated outcome was clinical pregnancy rate following embryo transfers in which healthy embryos were transferred after only one biopsy and those in which an embryo was transferred after being re-biopsied. Live birth rate was the secondary outcome.
RESULTS: Clinical pregnancy rate was 52% (95% CI: 34-69) following the transfer of a single-biopsy blastocyst and 30% (95% CI: 16-48) following the transfer of a re-biopsied blastocyst. The likelihood to have a healthy baby was 33% (95% CI: 19-52) following the transfer of a blastocyst biopsied once and 22% (95% CI: 11-41) following the transfer of a re-biopsied blastocyst.
CONCLUSIONS: The re-biopsy intervention seems to considerably reduce the pregnancy potential of a blastocyst. However, a greater sample size is necessary to clarify this issue definitively.
METHODS: Embryos from women who underwent PGT-M in an infertility centre and who had been transferred after two biopsies for genetic analysis (n = 27) were matched in a 1:1 ratio accordingly to women\'s age (± 1 year) and fertility status (fertile vs infertile), as well as with the study period, with embryos who were transferred after receiving a conclusive PGT result straight after the first biopsy (n = 27). The main evaluated outcome was clinical pregnancy rate following embryo transfers in which healthy embryos were transferred after only one biopsy and those in which an embryo was transferred after being re-biopsied. Live birth rate was the secondary outcome.
RESULTS: Clinical pregnancy rate was 52% (95% CI: 34-69) following the transfer of a single-biopsy blastocyst and 30% (95% CI: 16-48) following the transfer of a re-biopsied blastocyst. The likelihood to have a healthy baby was 33% (95% CI: 19-52) following the transfer of a blastocyst biopsied once and 22% (95% CI: 11-41) following the transfer of a re-biopsied blastocyst.
CONCLUSIONS: The re-biopsy intervention seems to considerably reduce the pregnancy potential of a blastocyst. However, a greater sample size is necessary to clarify this issue definitively.
摘要：
目的：评估第二次活检是否，在进行单基因疾病植入前遗传学检测（PGT-M）的胚泡首次诊断失败后，允许获得遗传诊断，以及与从第一次活检成功进行遗传诊断的PGT-M过程相比，该过程在多大程度上可以影响临床妊娠和活产率。
方法：在不孕症中心接受PGT-M并在两次活检进行遗传分析后转移的女性（n=27）的胚胎以1：1的比例与女性的年龄（±1岁）和生育状况（可育与不育）进行匹配。以及学习期间，在第一次活检后直接获得决定性的PGT结果后转移的胚胎（n=27）。主要评估的结果是胚胎移植后的临床妊娠率，其中健康胚胎仅在一次活检后转移，而胚胎在重新活检后转移。活产率是次要结果。
结果：单活检胚泡转移后的临床妊娠率为52％（95％CI：34-69），再活检胚泡转移后的临床妊娠率为30％（95％CI：16-48）。一次活检的胚泡转移后，有健康婴儿的可能性为33％（95％CI：19-52），再次活检的胚泡转移后为22％（95％CI：11-41）。
结论：再次活检干预似乎大大降低了胚泡的妊娠潜能。然而,需要更大的样本量来明确澄清这个问题。
方法：在不孕症中心接受PGT-M并在两次活检进行遗传分析后转移的女性（n=27）的胚胎以1：1的比例与女性的年龄（±1岁）和生育状况（可育与不育）进行匹配。以及学习期间，在第一次活检后直接获得决定性的PGT结果后转移的胚胎（n=27）。主要评估的结果是胚胎移植后的临床妊娠率，其中健康胚胎仅在一次活检后转移，而胚胎在重新活检后转移。活产率是次要结果。
结果：单活检胚泡转移后的临床妊娠率为52％（95％CI：34-69），再活检胚泡转移后的临床妊娠率为30％（95％CI：16-48）。一次活检的胚泡转移后，有健康婴儿的可能性为33％（95％CI：19-52），再次活检的胚泡转移后为22％（95％CI：11-41）。
结论：再次活检干预似乎大大降低了胚泡的妊娠潜能。然而,需要更大的样本量来明确澄清这个问题。
