Are blastocyst aneuploidy rates different between fertile and infertile populations?
Are blastocyst aneuploidy rates different between fertile and infertile populations?
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DOI：
10.1007/s10815-017-1060-x
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发表时间：
2018-03-01
影响因子：
3.1
通讯作者：
Lathi, Ruth B.
中科院分区：
文献类型：
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作者：
Kort, Jonathan D.;McCoy, Rajiv C.;Lathi, Ruth B.
目的本研究旨在确定不孕症或复发性流产患者的胚胎非整倍体发生率是否高于有生育力的对照组。方法回顾性分析了2014年3月之前由单一参考实验室进行胚泡活检后的所有植入前遗传筛查（PGS）病例。如果没有指定PGS适应症或患者为易位携带者，则排除病例。生育对照组由仅用于性别选择的PGS进行IVF的患者组成。对照组包括那些反复流产、男性因素不孕、不明原因不孕、既往IVF失败或既往非整倍体妊娠的患者。采用准二项回归模型评估因变量、非整倍体率与自变量、母亲年龄和PGS原因之间的关系。A quasi-Poisson回归模型被用来评估相似的自变量和囊胚活检的数量之间的关系，每个cases.Results的初始研究人群包括3378 IVF-PGS周期和18,387分析滋养外胚层样本。控制母亲年龄，我们观察到与生育对照组相比，复发性妊娠丢失（OR 1.330，p < 0.001）、既往非整倍体妊娠（OR 1.439，p < 0.001）或既往IVF周期失败（OR 1.356，p = 0.0012）患者的非整倍体发生率增加。原因不明和男性因素不孕患者的非整倍体率与对照组相比无显著差异（p > 0.05）。RPL和既往IVF失败患者中非整倍体的增加是由减数分裂增加，（OR 1.488和1.508，p < 0.05）和有丝分裂错误（1.269和1.393，p < 0.05），而先前非整倍体妊娠的患者仅增加了减数分裂错误非整倍体的风险结论反复流产、IVF失败和非整倍体妊娠患者的非整倍体发生率显著高于无不孕患者。
Purpose This study aimed to determine if patients with infertility or recurrent pregnancy loss have higher rates of embryo aneuploidy than fertile controls.Methods This was a retrospective review of all preimplantation genetic screening (PGS) cases processed by a single reference lab prior to March 2014 after a blastocyst biopsy. Cases were excluded if no indication for PGS was designated or patients were translocation carriers. The fertile control group consisted of patients undergoing IVF with PGS for sex selection only. The comparison cohorts included those with recurrent pregnancy loss, male factor infertility, unexplained infertility, prior failed IVF, or previous aneuploid conceptions. A quasi-binomial regression model was used to assess the relationship between the dependent variable, aneuploidy rate and the independent variables, maternal age and reason for PGS. A quasi-Poisson regression model was used to evaluate the relationship between similar independent variables and the number of blastocyst biopsies per case.Results The initial study population consisted of 3378 IVF-PGS cycles and 18,387 analyzed trophectoderm samples. Controlling for maternal age, we observed an increased rate of aneuploidy among patients with recurrent pregnancy loss (OR 1.330, p < 0.001), prior aneuploid pregnancy (OR 1.439, p < 0.001), or previous failed IVF cycles (OR 1.356, p = 0.0012) compared to fertile controls. Patients with unexplained and male factor infertility did not have a significantly different aneuploidy rate than controls (p > 0.05). The increase in aneuploidy in patients with RPL and prior IVF failure was driven by both an increase in meiotic (OR 1.488 and 1.508, p < 0.05) and mitotic errors (1.269 and 1.393, p < 0.05) relative to fertile controls, while patients with prior aneuploid pregnancies had only an increased risk of meiotic error aneuploidies (OR 1.650, p < 0.05).Conclusions Patients with recurrent pregnancy loss, previous IVF failures, and prior aneuploid pregnancies have a significantly higher, age-independent, aneuploidy rate compared to patients without infertility.