Abstract

Purpose

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.

中文翻译：

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第二次胚胎活检对单基因疾病植入前基因检测（PGT-M）的影响，但结果不确定，对妊娠潜力的影响：匹配病例对照研究的结果

摘要

目的

评估在单基因疾病植入前基因检测 (PGT-M) 的囊胚第一次诊断失败后进行第二次活检是否能够获得基因诊断，以及与传统方法相比，该程序在多大程度上影响临床妊娠和活产率PGT-M 过程从第一次活检就成功进行了基因诊断。

方法

来自在不孕中心接受 PGT-M 并在两次活检后移植进行遗传分析的女性的胚胎 ( n  = 27) 根据女性年龄 (± 1 岁) 和生育状况 (可生育) 以 1:1 的比例进行匹配 与 不孕），以及研究期间，在第一次活检后立即收到结论性 PGT 结果后移植的胚胎（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移植，以及胚胎在再次活检后移植。活产率是次要结果。

结果

单次活检囊胚移植后的临床妊娠率为 52%（95% CI：34-69），而再次活检囊胚移植后的临床妊娠率为 30%（95% CI：16-48）。移植一次活检的囊胚后，生育健康婴儿的可能性为 33% (95% CI: 19–52)，移植再次活检的囊胚后，生育健康婴儿的可能性为 22% (95% CI: 11–41)。

结论

再次活检干预似乎大大降低了囊胚的妊娠潜力。然而，需要更大的样本量才能明确地澄清这个问题。