PDF(Pubmed)
Abstract：
OBJECTIVE: Our objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing preimplantation genetic testing for monogenic disorders (PGT-M) and chromosomal structural rearrangements (PGT-SR) which is likely to exhibit a diminished expected CLBR based on various patient demographics.
METHODS: We performed a single-centre retrospective cohort study including 1522 women undergoing 3130 PGT cycles at a referral centre for PGT. A logistic regression analysis was performed to predict the CLBR per ovarian stimulation in women undergoing PGT-M by polymerase chain reaction (PCR) or single-nucleotide polymorphism (SNP) array, and in women undergoing PGT-SR by SNP array, array comparative genomic hybridization (CGH) or next-generation sequencing (NGS).
RESULTS: The mean age of women was 32.6 years, with a mean AMH of 2.75 µg/L. Female age and AMH significantly affected the expected CLBR irrespective of the inheritance mode or PGT technology. An expected CLBR < 10% was reached above the age of 42 years and AMH ≤ 1.25 µg/L. We found no significant difference in outcome per ovarian stimulation between the different PGT technologies, i.e. PCR, SNP array, array CGH and NGS. Whereas per embryo transfer, we noticed a significantly higher probability of live birth when SNP array, array CGH and NGS were used as compared to PCR.
CONCLUSIONS: In a PGT-setting, couples with an unfavourable female age and AMH should be informed of the prognosis to allow other reproductive choices. The heatmap produced in this study can be used as a visual tool for PGT couples.
METHODS: We performed a single-centre retrospective cohort study including 1522 women undergoing 3130 PGT cycles at a referral centre for PGT. A logistic regression analysis was performed to predict the CLBR per ovarian stimulation in women undergoing PGT-M by polymerase chain reaction (PCR) or single-nucleotide polymorphism (SNP) array, and in women undergoing PGT-SR by SNP array, array comparative genomic hybridization (CGH) or next-generation sequencing (NGS).
RESULTS: The mean age of women was 32.6 years, with a mean AMH of 2.75 µg/L. Female age and AMH significantly affected the expected CLBR irrespective of the inheritance mode or PGT technology. An expected CLBR < 10% was reached above the age of 42 years and AMH ≤ 1.25 µg/L. We found no significant difference in outcome per ovarian stimulation between the different PGT technologies, i.e. PCR, SNP array, array CGH and NGS. Whereas per embryo transfer, we noticed a significantly higher probability of live birth when SNP array, array CGH and NGS were used as compared to PCR.
CONCLUSIONS: In a PGT-setting, couples with an unfavourable female age and AMH should be informed of the prognosis to allow other reproductive choices. The heatmap produced in this study can be used as a visual tool for PGT couples.
摘要：
目的：我们的目的是预测累积活产率（CLBR），并在接受单基因疾病（PGT-M）和染色体结构重排（PGT-SR）植入前遗传学检测的人群中确定特定的子集，根据各种患者的人口统计学，这可能显示出预期的CLBR减少。
方法：我们进行了一项单中心回顾性队列研究，包括1522名在PGT转诊中心接受3130个PGT周期的妇女。通过聚合酶链反应（PCR）或单核苷酸多态性（SNP）阵列进行逻辑回归分析，以预测接受PGT-M的女性每次卵巢刺激的CLBR。在接受SNP阵列PGT-SR的女性中，阵列比较基因组杂交(CGH)或下一代测序(NGS)。
结果：女性平均年龄为32.6岁，平均AMH为2.75µg/L。无论遗传方式或PGT技术如何，女性年龄和AMH都会显着影响预期的CLBR。在42岁以上，AMH≤1.25µg/L的年龄达到预期的CLBR<10％。我们发现不同PGT技术之间每次卵巢刺激的结局没有显着差异，即PCR，SNP阵列,阵列CGH和NGS。而每次胚胎移植，我们注意到当SNP排列时，活产的概率明显更高，与PCR相比,使用阵列CGH和NGS。
结论：在PGT设置中，女性年龄不利且AMH的夫妇应被告知预后,以允许其他生殖选择.本研究中产生的热图可以用作PGT夫妇的可视化工具。
方法：我们进行了一项单中心回顾性队列研究，包括1522名在PGT转诊中心接受3130个PGT周期的妇女。通过聚合酶链反应（PCR）或单核苷酸多态性（SNP）阵列进行逻辑回归分析，以预测接受PGT-M的女性每次卵巢刺激的CLBR。在接受SNP阵列PGT-SR的女性中，阵列比较基因组杂交(CGH)或下一代测序(NGS)。
结果：女性平均年龄为32.6岁，平均AMH为2.75µg/L。无论遗传方式或PGT技术如何，女性年龄和AMH都会显着影响预期的CLBR。在42岁以上，AMH≤1.25µg/L的年龄达到预期的CLBR<10％。我们发现不同PGT技术之间每次卵巢刺激的结局没有显着差异，即PCR，SNP阵列,阵列CGH和NGS。而每次胚胎移植，我们注意到当SNP排列时，活产的概率明显更高，与PCR相比,使用阵列CGH和NGS。
结论：在PGT设置中，女性年龄不利且AMH的夫妇应被告知预后,以允许其他生殖选择.本研究中产生的热图可以用作PGT夫妇的可视化工具。
