Preimplantation genetic testing for aneuploidy

非整倍性的植入前遗传检测
  • 文章类型: Journal Article
    背景:非侵入性染色体筛查(NICS)和滋养外胚层活检植入前基因检测(TE-PGT)均用于胚胎倍性检测,然而,老年组NICS和TE-PGT的累积活产率(CLBR)尚未报告.这项研究旨在确定NICS和TE-PGT是否可以提高高龄产妇的累积活产率。
    方法:共招募384对35-40岁的夫妇。患者被分为三组:NICS,TE-PGT,和卵胞浆内单精子注射(ICSI)。所有患者均接受冷冻单囊胚移植。NICS和TE-PGT组患者接受非整倍体筛查。
    结果:与ICSI组相比,NICS和TE-PGT组的CLBR明显更高(27.9%vs.44.9%vs.51.0%,对于NICS和NICS,p=0.003ICSI,TE-PGT与ICSI)。NICS和TE-PGT组之间的临床结果没有显着差异。调整混杂因素,NICS和TE-PGT组的CLBR仍高于ICSI组(校正比值比(OR)3.847,95%置信区间(CI)1.939~7.634;校正OR3.795,95%CI1.981~7.270).此外,NICS组和TE-PGT组的累积妊娠损失率显著低于ICSI组(校正OR0.277,95%CI0.087~0.885;校正OR0.182,95%CI0.048~0.693).三组出生体质量差异无统计学意义(p=0.108)。
    结论:在35-40岁的女性中,可以通过使用NICS和TE-PGT选择整倍体胚胎来增加CLBR。对于胚胎非整倍体高风险的老年妇女,NICS,其特点是安全性和非侵入性,可能会成为植入前遗传检测的替代选择。
    BACKGROUND: Non-invasive chromosome screening (NICS) and trophectoderm biopsy preimplantation genetic testing for aneuploidy (TE-PGT) were both applied for embryo ploidy detection, However, the cumulative live birth rates (CLBR) of NICS and TE-PGT in older age groups have yet to be reported. This study aimed to ascertain whether NICS and TE-PGT could enhance the cumulative live birth rates among patients of advanced maternal age.
    METHODS: A total of 384 couples aged 35-40 years were recruited. The patients were assigned to three groups: NICS, TE-PGT, and intracytoplasmic sperm injection (ICSI). All patients received frozen single blastocyst transfer. Patients in the NICS and TE-PGT groups underwent aneuploidy screening.
    RESULTS: When compared to the ICSI group, the CLBR was significantly higher in the NICS and TE-PGT groups (27.9% vs. 44.9% vs. 51.0%, p = 0.003 for NICS vs. ICSI, p < 0.001 for TE-PGT vs. ICSI). There were no significant differences in the clinical outcomes between the NICS and TE-PGT groups. Adjusting for confounding factors, the NICS and TE-PGT groups still showed a higher CLBR than the ICSI group (adjusted odds ratio (OR) 3.847, 95% confidence interval (CI) 1.939 to 7.634; adjusted OR 3.795, 95% CI 1.981 to 7.270). Additionally, the cumulative pregnancy loss rates of the NICS and TE-PGT groups were significantly lower than that of the ICSI group (adjusted OR 0.277, 95% CI 0.087 to 0.885; adjusted OR 0.182, 95% CI 0.048 to 0.693). There was no significant difference in the birth weights of the three groups (p = 0.108).
    CONCLUSIONS: In women 35-40 years old, the CLBR can be increased by selecting euploid embryos using NICS and TE-PGT. For elderly women at high risk of embryonic aneuploidy, NICS, characterized by its safety and non-invasive nature, may emerge as an alternative option for preimplantation genetic testing.
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  • 文章类型: Journal Article
    主要目的是研究使用下一代测序(NGS)进行非整倍性植入前遗传学测试(PGT-A)是否可以增强无法解释的复发性妊娠丢失(uRPL)或无法解释的重复植入失败(uRIF)患者的生殖结局。
    我们回顾性研究了2020年7月至2024年1月成都妇女儿童中心医院uRPL或uRIF患者的生殖结局。这些患者根据是否接受PGT-A分为两组。由于PGT-A组患者均有ICSI和冻融胚胎移植(FET),仅接受ICSI和FET的患者被纳入非PGT-A组进行比较.比较了uRPL或uRIF患者的人口统计学特征和生殖结局。
    对于uRPL组,持续妊娠率显着增加(63.6%vs26.1%,p=0.002)和降低的妊娠损失率(18.4%vs73.3%,与非PGT-A组相比,PGT-A组中发现p<0.001)。对于uRIF组,HCG阳性率无显著差异,持续怀孕率,或妊娠丢失率在两组之间。值得注意的是,PGT-A组的产妇年龄明显高于非PGT-A组(p=0.048)。
    基于NGS的PGT-A有效地优化了uRPL患者的生殖结局。尽管它在uRIF中的好处似乎有限,对于那些高龄产妇来说,这是一个潜在的优势。考虑到样本量小,需要进一步的随机对照试验来验证这些发现.
    UNASSIGNED: The primary objective was to investigate whether the utilization of next-generation sequencing (NGS) for preimplantation genetic testing for aneuploidy (PGT-A) could enhance the reproductive outcomes in patients with unexplained recurrent pregnancy loss (uRPL) or unexplained repeated implantation failure (uRIF) undergoing intracytoplasmic sperm injection (ICSI) cycles.
    UNASSIGNED: We studied the reproductive outcomes of uRPL or uRIF sufferers in Chengdu women and children\'s central hospital from July 2020 to Jan 2024 retrospectively. These patients were categorized into two groups based on whether they underwent PGT-A or not. As the patients in the PGT-A group all had ICSI and frozen-thawed embryo transfer (FET), only patients who underwent ICSI and FET were included in the non-PGT-A group for comparison. Demographic characteristics and reproductive outcomes were compared in uRPL or uRIF sufferers.
    UNASSIGNED: For uRPL group, a significant increased ongoing pregnancy rate (63.6 % vs 26.1 %, p = 0.002) and reduced pregnancy loss rate (18.4 % vs 73.3 %, p < 0.001) were found in the PGT-A group in comparison with those in the non-PGT-A group. For uRIF group, no significant difference was noted in the HCG-positive rate, ongoing pregnancy rate, or pregnancy loss rate between the two groups. It is noteworthy that the maternal age in the PGT-A group was significantly higher than that in the non-PGT-A group (p = 0.048).
    UNASSIGNED: NGS-based PGT-A effectively optimized the reproductive outcomes in uRPL sufferers. Although its benefits in uRIF appeared to be limited, there is a potential advantage for those with advanced maternal age. Considering the small sample size, further randomized controlled trials are warranted to validate these findings.
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  • 文章类型: Journal Article
    目的:比较促性腺激素释放激素激动剂(GnRH-a)长和短方案后的非整倍性(PGT-A)周期植入前遗传学测试中胚泡整倍体率的差异,GnRH拮抗剂(GnRH-ant)方案,孕激素引发的卵巢刺激和轻度刺激方案,和其他卵巢刺激方案。
    方法:这是上海市第一妇婴医院辅助生殖医学科的一项回顾性队列研究。分析了不同控制性卵巢过度刺激方案后卵胞浆内单精子注射的共1657个PGT-A周期,共对3154个胚胎进行了活检。每个胚胎活检的整倍体率差异,比较了每个卵母细胞的胚胎整倍体率和周期取消率。
    结果:对于PGT-A周期,GnRH-ant方案中每个胚胎活检的整倍体率低于GnRH-a长方案(53.26vs.58.68%,分别)。多元线性回归表明,GnRH-ant方案与每个胚胎活检的整倍体率较低相关(β=-0.079,p=0.011)。每个胚胎活检的整倍体率不受总促性腺激素剂量的影响,刺激持续时间和恢复的卵母细胞数量。在所有方案中,每个回收的卵母细胞的胚胎整倍体率相似,并且与回收的卵母细胞总数呈负相关(β=-0.003,p=0.003)。
    结论:与GnRH-一个长方案相比,GnRH-ant方案与每个胚胎活检的整倍体率较低相关.促性腺激素的总剂量,刺激持续时间和回收的卵母细胞数量似乎没有显着影响整倍体率。
    OBJECTIVE: To compare differences in euploidy rates for blastocysts in preimplantation genetic testing for aneuploidy (PGT-A) cycles after gonadotropin-releasing hormone agonist (GnRH-a) long and short protocols, GnRH-antagonist (GnRH-ant) protocol, progestin-primed ovarian stimulation and mild stimulation protocols, and other ovary stimulation protocols.
    METHODS: This was a retrospective cohort study from the Assisted Reproductive Medicine Department of Shanghai First Maternity and Infant Hospital. A total of 1657 PGT-A cycles with intracytoplasmic sperm injection after different controlled ovary hyperstimulation protocols were analyzed, and a total of 3154 embryos were biopsied. Differences in euploidy rate per embryo biopsied, embryo euploidy rate per oocyte retrieved and cycle cancellation rate were compared.
    RESULTS: For the PGT-A cycles, the euploidy rate per embryo biopsied was lower in the GnRH-ant protocol than in the GnRH-a long protocol (53.26 vs. 58.68%, respectively). Multiple linear regression showed that the GnRH-ant protocol was associated with a lower euploidy rate per embryo biopsied (β =  -0.079, p = 0.011). The euploidy rate per embryo biopsied was not affected by total gonadotropin dosage, duration of stimulation and number of oocytes retrieved. The embryo euploidy rate per oocyte retrieved was similar in all protocols and was negatively correlated with the total number of oocytes retrieved (β =  -0.003, p = 0.003).
    CONCLUSIONS: Compared with the GnRH-a long protocol, the GnRH-ant protocol was associated with a lower euploidy rate per embryo biopsied. The total gonadotropin dosage, duration of stimulation and number of oocytes retrieved did not appear to significantly influence euploidy rates.
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  • 文章类型: Journal Article
    我们评估了基于下一代测序(NGS)的非整倍性植入前遗传学检测(PGT-A)是否与传统的体外受精或卵胞浆内单精子注射(IVF/ICSI)相比,改善了无法解释的复发性植入失败(uRIF)患者的累积妊娠结局。
    这是一项回顾性队列研究(2015-2022年)。总共705对被诊断为uRIF的夫妇被纳入研究。229名妇女根据形态学分级(IVF/ICSI)转移胚泡,476对夫妇选择PGT-A通过NGS筛选胚泡。根据检索时的年龄(<38岁和≥38岁)对妇女进行进一步分层。主要结果是所有胚胎在单个卵母细胞取出中转移后或直到实现活产的累积活产率。使用二元逻辑回归模型调整混杂因素。
    按年龄分层后,IVF/ICSI组和PGT-A组的累积活产率相似:<38岁亚组的IVF/ICSIvsPGT-A(49.7%vs57.7%,调整后OR(95%CI)=1.25(0.84-1.84),P=0.270)和≥38岁亚组(14.0%vs19.5%,调整后OR(95%CI)=1.09(0.41-2.92),P=0.866),分别。尽管如此,PGT组的首次生化妊娠损失率较低(17.0%vs8.7%,P=0.034)和更高的累积良好出生结局率(35.2%vs46.4%,P=0.014)在<38年亚组中比IVF/ICSI组。初始胚胎移植后的其他妊娠结局和单个卵母细胞取出后的多次移植在组间都是相似的。
    我们的结果显示,无论母亲年龄如何,PGT-A治疗对改善uRIF夫妇的累积活产率没有有利作用。在<38岁uRIF患者中使用PGT-A将有助于减少首次生化妊娠损失并增加累积良好的分娩结局。
    UNASSIGNED: We evaluate whether next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) improves the cumulative pregnancy outcomes of patients with unexplained recurrent implantation failure (uRIF) as compared to conventional in vitro fertilization or intracytoplasmic sperm injection (IVF/ICSI).
    UNASSIGNED: This was a retrospective cohort study (2015-2022). A total of 705 couples diagnosed with uRIF were included in the study. 229 women transferred blastocysts based on morphological grading (IVF/ICSI) and 476 couples opted for PGT-A to screen blastocysts by NGS. Women were further stratified according to age at retrieval (<38 years and ≥38 years). The primary outcome was the cumulative live-birth rate after all the embryos were transferred in a single oocyte retrieval or until achieving a live birth. Confounders were adjusted using binary logistic regression models.
    UNASSIGNED: Cumulative live-birth rate was similar between the IVF/ICSI group and the PGT-A group after stratified by age: IVF/ICSI vs PGT-A in the <38 years subgroup (49.7% vs 57.7%, adjusted OR (95% CI) = 1.25 (0.84-1.84), P = 0.270) and in the ≥38 years subgroup (14.0% vs 19.5%, adjusted OR (95% CI) = 1.09 (0.41-2.92), P = 0.866), respectively. Nonetheless, the PGT group had a lower first-time biochemical pregnancy loss rate (17.0% vs 8.7%, P = 0.034) and a higher cumulative good birth outcome rate (35.2% vs 46.4%, P = 0.014) than the IVF/ICSI group in the <38 years subgroup. Other pregnancy outcomes after the initial embryo transfer and multiple transfers following a single oocyte retrieval were all similar between groups.
    UNASSIGNED: Our results showed no evidence of favorable effects of PGT-A treatment on improving the cumulative live birth rate in uRIF couples regardless of maternal age. Use of PGT-A in the <38 years uRIF patients would help to decrease the first-time biochemical pregnancy loss and increase the cumulative good birth outcome.
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  • 文章类型: Journal Article
    背景:非整倍体的植入前遗传测试(PGT-A)被广泛用作体外受精(IVF)的胚胎选择技术,但其有效性和潜在受益人群尚不清楚.
    方法:这项回顾性队列研究包括在2016年1月至2019年11月期间在CITIC-湘雅进行首次取卵周期的患者,以及截至2020年11月30日的相关新鲜和解冻胚胎移植周期。包括PGT-A(PGT-A组)和胞浆内单精子注射(ICSI)/IVF(非PGT-A组)周期。获得的卵母细胞和胚胎的数量不受限制。总的来说,纳入60,580名患者,和基线数据在组间使用1:3倾向评分匹配进行匹配.敏感性分析,包括倾向评分分层和传统的多变量逻辑回归,对原始未匹配的队列进行检查,以检查总体结果的稳健性。分析按年龄分层,身体质量指数,卵巢储备/反应性,以及探索亚组益处的潜在指征。主要结果是累积活产率(CLBR)。其他结果包括活产率(LBR),妊娠损失率,临床妊娠率,妊娠并发症,低出生体重率,和新生儿畸形率。
    结果:总计,4195个PGT-A用户与10,140个非PGT-A用户匹配。在使用PGT-A的女性中观察到CLBR的显着减少(27.5%与31.1%;比值比(OR)=0.84,95%置信区间(CI)0.78-0.91;P<0.001)。然而,使用PGT-A的女性首次转移妊娠率较高(63.9%vs.46.9%;OR=2.01,95%CI1.81-2.23;P<0.001)和LBR(52.6%vs.34.2%,OR=2.13,95%CI1.92-2.36;P<0.001)的早期流产率和较低的发生率(12.8%vs.20.2%;OR=0.58,95%CI0.48-0.70;P<0.001),早产(8.6%vs17.3%;P<0.001),和低出生体重(4.9%vs.19.3%;P<0.001)。此外,亚组分析显示,年龄≥38岁的女性,诊断为复发性妊娠丢失或宫腔粘连受益于PGT-A,首次转移LBR显着增加,而CLBR没有减少。
    结论:PGT-A并不增加和减少每个取卵周期的CLBR;尽管如此,它对有特定适应症的不育人群有效。PGT-A减少与多胎妊娠相关的并发症。
    Preimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but its effectiveness and potential beneficiary populations are unclear.
    This retrospective cohort study included patients who underwent their first oocyte retrieval cycles at CITIC-Xiangya between January 2016 and November 2019, and the associated fresh and thawed embryo transfer cycles up to November 30, 2020. PGT-A (PGT-A group) and intracytoplasmic sperm injection (ICSI)/IVF (non-PGT-A group) cycles were included. The numbers of oocytes and embryos obtained were unrestricted. In total, 60,580 patients were enrolled, and baseline data were matched between groups using 1:3 propensity score matching. Sensitivity analyses, including propensity score stratification and traditional multivariate logistic regression, were performed on the original unmatched cohort to check the robustness of the overall results. Analyses were stratified by age, body mass index, ovarian reserve/responsiveness, and potential indications to explore benefits in subgroups. The primary outcome was cumulative live birth rate (CLBR). The other outcomes included live birth rate (LBR), pregnancy loss rate, clinical pregnancy rate, pregnancy complications, low birth weight rate, and neonatal malformation rate.
    In total, 4195 PGT-A users were matched with 10,140 non-PGT-A users. A significant reduction in CLBR was observed in women using PGT-A (27.5% vs. 31.1%; odds ratio (OR) = 0.84, 95% confidence interval (CI) 0.78-0.91; P < 0.001). However, women using PGT-A had higher first-transfer pregnancy (63.9% vs. 46.9%; OR = 2.01, 95% CI 1.81-2.23; P < 0.001) and LBR (52.6% vs. 34.2%, OR = 2.13, 95% CI 1.92-2.36; P < 0.001) rates and lower rates of early miscarriage (12.8% vs. 20.2%; OR = 0.58, 95% CI 0.48-0.70; P < 0.001), preterm birth (8.6% vs 17.3%; P < 0.001), and low birth weight (4.9% vs. 19.3%; P < 0.001). Moreover, subgroup analyses revealed that women aged ≥ 38 years, diagnosed with recurrent pregnancy loss or intrauterine adhesions benefited from PGT-A, with a significant increase in first-transfer LBR without a decrease in CLBR.
    PGT-A does not increase and decrease CLBR per oocyte retrieval cycle; nonetheless, it is effective in infertile populations with specific indications. PGT-A reduces complications associated with multiple gestations.
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  • 文章类型: Clinical Trial
    背景:研究表明,在卵巢刺激(OS)期间补充重组人GH(rh-GH)可能会改善IVF的卵巢反应和临床结局。然而,尚不清楚GH是否与胚胎的倍性状态有关,因此,无法解释GH对IVF结局影响的根本原因。这项研究旨在调查OS期间高龄孕妇(AMA)的GH补充是否与获得整倍体胚泡的可能性增加有关。
    方法:这是一项单中心回顾性队列研究。审查了在2021年1月至2022年6月之间进行了首次非整倍性植入前遗传检测(PGT-A)周期的所有38-46岁女性的数据。GH组的患者从OS开始到触发日接受4IU/天的皮下GH补充,对照组患者没有。经1:2倾向评分匹配后,纳入GH组140例患者和对照组272例患者。
    结果:两组之间的基线和周期特征相似。GH组获得整倍体囊胚的周期比例明显高于对照组(41.43%vs.27.21%,P=0.00)。GH组每个队列的整倍体囊胚率明显较高(32.47%vs.21.34%,P=0.00)和每个周期的平均整倍体囊胚率(每个活检周期0.35±0.40vs.0.21±0.33,P=0.00;每个OS周期0.27±0.38与0.16±0.30,P=0.02)。然而,GH的益处在38-40岁的患者中更为显著,但在41-46岁的患者中并不显著。胚胎移植后两组妊娠结局相似。
    结论:OS期间补充GH与38-40岁女性获得整倍体胚泡的可能性显着增加有关,但这种益处在41-46岁的女性中并不显著。我们的结果解释了现有研究中GH对IVF结局影响的根本原因,并可能有助于AMA患者接受PGT-A周期,以获得更好的结果,同时避免过度治疗。
    背景:NCT05574894,www.
    结果:政府。
    BACKGROUND: Studies have shown that supplementation with recombinant human GH (rh-GH) during ovarian stimulation (OS) may improve the ovarian response and clinical outcomes of IVF. However, it remains unclear whether GH is associated with the ploidy status of embryos, and therefore, is unable to explain the underlying reason for the effect of GH on IVF outcomes. This study aimed to investigate whether GH supplementation in women with advanced maternal age (AMA) during OS is related to an increased probability of obtaining euploid blastocysts.
    METHODS: This was a single center retrospective cohort study. The data of all women aged 38-46 years who underwent their first preimplantation genetic testing for aneuploidy (PGT-A) cycle between January 2021 and June 2022 were reviewed. Patients in the GH group received 4 IU/day subcutaneous GH supplementation from the beginning of OS to the trigger day, and patients in the control group did not. A total of 140 patients in the GH group and 272 patients in the control group were included after 1:2 propensity score matching.
    RESULTS: The baseline and cycle characteristics between the two groups were similar. The proportion of cycles which obtained euploid blastocysts was significantly higher in the GH group than that in the control group (41.43% vs. 27.21%, P = 0.00). The GH group had a significantly higher euploid blastocyst rate per cohort (32.47% vs. 21.34%, P = 0.00) and mean euploid blastocyst rate per cycle (per biopsy cycle 0.35 ± 0.40 vs. 0.21 ± 0.33, P = 0.00; per OS cycle 0.27 ± 0.38 vs. 0.16 ± 0.30, P = 0.02). However, the benefit of GH was more significant in patients aged 38-40 years, but not significant in patients aged 41-46 years. Pregnancy outcomes were similar between the two groups after embryo transfer.
    CONCLUSIONS: GH supplementation during OS is associated with a significantly increased probability of obtaining euploid blastocysts in women aged 38-40 years, but this benefit is not significant in women aged 41-46 years. Our results explained the underlying reason for the effect of GH on IVF outcomes in existing studies, and might be helpful for AMA patients undergoing PGT-A cycles to obtain a better outcome meanwhile to avoid over-treatment.
    BACKGROUND: NCT05574894, www.
    RESULTS: gov .
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  • 文章类型: Meta-Analysis
    非整倍体的植入前遗传测试(PGT-A)是一项新兴技术,旨在鉴定用于移植的整倍体胚胎,降低胚胎染色体异常的风险。然而,PGT-A在复发性妊娠失败(RPF)患者中的临床益处,特别是在年轻的RPF患者中,仍然不确定。
    这项荟萃分析旨在确定接受PGT-A的RPF患者与未接受PGT-A的患者相比是否具有更好的临床结果,从而评估PGT-A在临床实践中的价值。
    我们系统地搜索了PubMed,Cochrane图书馆,中国国家知识基础设施(CNKI),万方数据,和2002年至2022年的中国技术期刊(VIP)VIP数据库。该荟萃分析包括13项已发表的研究,涉及使用PGT-A筛查的930名RPF患者和不使用PGT-A筛查的1,434名RPF患者。根据PGT-A(n=1,015)和不含PGT-A(n=1,799)的胚胎移植评估临床结果。
    与体外受精(IVF)/卵胞浆内单精子注射(ICSI)组相比,PGT-A组表现出更好的临床结局。PGT-A组的植入率(IR)明显更高(RR=2.01,95%CI:[1.73;2.34]),临床妊娠率(CPR)(RR=1.53,95%CI:[1.36;1.71]),持续妊娠率(OPR)(RR=1.76,95%CI:[1.35;2.29]),活产率(LBR)(RR=1.75,95%CI:[1.51;2.03]),显著降低临床流产率(CMR)(RR=0.74,95%CI:[0.54;0.99])。基于患者年龄(35岁以下和35岁或以上)的亚组分析显示,与IVF/ICSI组相比,两个PGT-A亚组的CPR(P<0.01)和LBR(P<0.05)值均明显更好。
    这项荟萃分析表明,PGT-A在RPF患者中,与改善的临床结果相关,包括更高的IR,CPR,OPR,和LBR值,与IVF/ICSI组相比,CMR较低。这些发现支持PGT-A在RPF患者中的积极临床应用。
    http://INPLASY.com,标识符INPLASY202320118。
    Preimplantation genetic testing for aneuploidy (PGT-A) is an emerging technology that aims to identify euploid embryos for transfer, reducing the risk of embryonic chromosomal abnormalities. However, the clinical benefits of PGT-A in recurrent pregnancy failure (RPF) patients, particularly in young RPF patients, remains uncertain.
    This meta-analysis aimed to determine whether RPF patients undergoing PGT-A had better clinical outcomes compared to those not undergoing PGT-A, thus assessing the value of PGT-A in clinical practice.
    We systematically searched PubMed, the Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang Data, and VIP Database for Chinese Technical Periodicals (VIP) from 2002 to 2022. Thirteen published studies involving 930 RPF patients screened using PGT-A and over 1,434 RPF patients screened without PGT-A were included in this meta-analysis. Clinical outcomes were evaluated based on embryo transfers after PGT-A (n=1,015) and without PGT-A (n=1,799).
    The PGT-A group demonstrated superior clinical outcomes compared to the in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) group. The PGT-A group had a significantly higher implantation rate (IR) (RR=2.01, 95% CI: [1.73; 2.34]), clinical pregnancy rate (CPR) (RR=1.53, 95% CI: [1.36; 1.71]), ongoing pregnancy rate (OPR) (RR=1.76, 95% CI: [1.35; 2.29]), live birth rate (LBR) (RR=1.75, 95% CI: [1.51; 2.03]), and significantly lower clinical miscarriage rate (CMR) (RR=0.74, 95% CI: [0.54; 0.99]). Subgroup analysis based on patient age (under 35 years and 35 years or older) showed that both PGT-A subgroups had significantly better CPR (P<0.01) and LBR (P<0.05) values compared to the IVF/ICSI groups.
    This meta-analysis demonstrates that PGT-A in RPF patients, is associated with improved clinical outcomes, including higher IR, CPR, OPR, and LBR values, and lower CMR compared to the IVF/ICSI group. These findings support the positive clinical application of PGT-A in RPF patients.
    http://INPLASY.com, identifier INPLASY 202320118.
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  • 文章类型: Multicenter Study
    目的:是否可以预测先前患有非整倍体妊娠丢失(PAPL)并接受非整倍体植入前遗传学检测(PGT-A)的患者的囊胚非整倍体?
    结论:使用四个确定的因素建立了多变量逻辑回归模型来预测囊胚非整倍体的高风险,呈现良好的预测性能。
    背景:非整倍体是导致妊娠丢失的最常见的胚胎染色体异常。一些研究表明,PAPL患者的胚胎非整倍性率较高,这表明PGT-A对PAPL患者有改善妊娠结局的作用.然而,最近的研究未能证明PGT-A对PAPL患者的疗效.提高疗效的一种可能方法是预测胚泡非整倍性风险,以确定可能受益于PGT-A的特定PAPL群体。
    方法:对2014年1月至2020年6月在大学附属教学医院三个生殖医学中心接受PGT-A治疗的1119例患者进行了多中心回顾性队列研究。有1至3个PAPL的550名患者被纳入PAPL组。此外,569例单基因疾病无妊娠丢失患者作为非PAPL组。
    方法:使用单核苷酸多态性微阵列和下一代测序进行PGT-A。计算每位患者第5天囊胚的非整倍体率,并将高风险非整倍体率定义为≥50%。使用Akaike信息标准选择高风险非整倍体的候选危险因素,随后将其纳入多变量逻辑回归模型。使用混淆矩阵评估总体预测准确性,通过接收器工作特性曲线(AUC)下的面积进行区分,并通过绘制预测概率与观察到的概率进行校准。P<0.05时具有统计学意义。
    结果:PAPL和非PAPL组的囊胚非整倍体率分别为30±25%和21±19%,分别。产妇年龄(比值比(OR)=1.31,95%CI1.24-1.39,P<0.001),PAPL数(OR=1.40,95%CI1.05-1.86,P=0.02),排卵触发日的雌二醇水平(OR=0.47,95%CI0.30-0.73,P<0.001),囊胚形成率(OR=0.13,95%CI0.03-0.50,P=0.003)与囊胚非整倍体的高风险相关。基于上述四个变量的预测模型,使用训练数据集得到的AUC为0.80,使用测试数据集得到的AUC为0.83,训练数据集的平均和最大差异为2.89%和12.76%,测试数据集的0.98%和5.49%,分别。
    结论:我们的结论可能与那些小于4个活检囊胚和卵巢储备减少的患者不一致。因为所有纳入的患者都有4个或更多的活检囊胚,并且表现出良好的卵巢储备。
    结论:开发的预测模型对于在PGT-A之前咨询PAPL患者至关重要,PAPLs的数量,在排卵触发日的雌二醇水平,和胚泡形成率。该预测模型实现了良好的风险分层,因此可能有助于识别可能具有较高的胚泡非整倍体风险的PAPL患者,因此可以通过PGT-A获得更好的妊娠结局。
    背景:这项工作得到了国家自然科学基金(81871159)的资助。研究中不存在竞争兴趣。
    背景:不适用。
    OBJECTIVE: Can blastocyst aneuploidy be predicted for patients with previous aneuploid pregnancy loss (PAPL) and receiving preimplantation genetic testing for aneuploidy (PGT-A)?
    CONCLUSIONS: Multivariable logistic regression models were established to predict high risk of blastocyst aneuploidy using four identified factors, presenting good predictive performance.
    BACKGROUND: Aneuploidy is the most common embryonic chromosomal abnormality leading to pregnancy loss. Several studies have demonstrated a higher embryo aneuploidy rate in patients with PAPL, which has suggested that PGT-A should have benefits in PAPL patients intending to improve their pregnancy outcomes. However, recent studies have failed to demonstrate the efficacy of PGT-A for PAPL patients. One possible way to improve the efficacy is to predict the risk of blastocyst aneuploidy risk in order to identify the specific PAPL population who may benefit from PGT-A.
    METHODS: We conducted a multicenter retrospective cohort study based on data analysis of 1119 patients receiving PGT-A in three reproductive medical centers of university affiliated teaching hospitals during January 2014 to June 2020. A cohort of 550 patients who had one to three PAPL(s) were included in the PAPL group. In addition, 569 patients with monogenic diseases without pregnancy loss were taken as the non-PAPL group.
    METHODS: PGT-A was conducted using single nucleotide polymorphism microarrays and next-generation sequencing. Aneuploidy rates in Day 5 blastocysts of each patient were calculated and high-risk aneuploidy was defined as a rate of ≥50%. Candidate risk factors for high-risk aneuploidy were selected using the Akaike information criterion and were subsequently included in multivariable logistic regression models. Overall predictive accuracy was assessed using the confusion matrix, discrimination by area under the receiver operating characteristic curve (AUC), and calibration by plotting the predicted probabilities versus the observed probabilities. Statistical significance was set at P < 0.05.
    RESULTS: Blastocyst aneuploidy rates were 30 ± 25% and 21 ± 19% for PAPL and non-PAPL groups, respectively. Maternal age (odds ratio (OR) = 1.31, 95% CI 1.24-1.39, P < 0.001), number of PAPLs (OR = 1.40, 95% CI 1.05-1.86, P = 0.02), estradiol level on the ovulation trigger day (OR = 0.47, 95% CI 0.30-0.73, P < 0.001), and blastocyst formation rate (OR = 0.13, 95% CI 0.03-0.50, P = 0.003) were associated with high-risk of blastocyst aneuploidy. The predictive model based on the above four variables yielded AUCs of 0.80 using the training dataset and 0.83 using the test dataset, with average and maximal discrepancies of 2.89% and 12.76% for the training dataset, and 0.98% and 5.49% for the test dataset, respectively.
    CONCLUSIONS: Our conclusions might not be compatible with those having fewer than four biopsied blastocysts and diminished ovarian reserves, since all of the included patients had four or more biopsied blastocysts and had exhibited good ovarian reserves.
    CONCLUSIONS: The developed predictive model is critical for counseling PAPL patients before PGT-A by considering maternal age, number of PAPLs, estradiol levels on the ovulation trigger day, and the blastocyst formation rate. This prediction model achieves good risk stratification and so may be useful for identifying PAPL patients who may have higher risk of blastocyst aneuploidy and can therefore acquire better pregnancy outcomes by PGT-A.
    BACKGROUND: This work was supported by the National Natural Science Foundation of China under Grant (81871159). No competing interest existed in the study.
    BACKGROUND: N/A.
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  • 文章类型: Journal Article
    目的:探讨基于下一代测序的非整倍体胚胎植入前基因检测是否能改善高龄孕妇的妊娠结局。
    方法:回顾性分析。分析2019年1月至2021年12月在解放军总医院第一医学中心接受治疗的1099对夫妇的临床资料。根据他们是否进行了基于下一代测序的非整倍体植入前遗传测试,将他们分为两组。我们分析并比较了生化妊娠率,临床妊娠率,流产率,两组之间的活产率。
    结果:非整倍体(PGT-A)组的植入前遗传学检测与非PGT-A组的生化妊娠率和临床妊娠率相关,分别为63.9%和56.4%(P=0.009)和54.4%45.6%(P<0.001),分别。与非PGT-A组相比,PGT-A组的流产率显着降低(2.3%vs.14.7%,P<0.001)。此外,PGT-A组的活产率显著高于非PGT-A组(52.1%和30.9%,分别,P<0.001)。
    结论:基于下一代测序的非整倍体植入前遗传学检测显著改善了高龄孕妇的妊娠结局。
    OBJECTIVE: To investigate if next-generation sequencing-based preimplantation genetic testing for aneuploidies could improve pregnancy outcomes in women of advanced maternal age.
    METHODS: A retrospective analysis. The clinical data of 1099 couples treated in the First Medical Center of the Chinese PLA General Hospital from January 2019 to December 2021 were analyzed. They were divided into two groups based on whether they underwent a Next-generation sequencing-based preimplantation genetic test for aneuploidies. We analyzed and compared the biochemical pregnancy rate, clinical pregnancy rate, abortion rate, and live birth rate between the two groups.
    RESULTS: The Preimplantation genetic testing for aneuploidies (PGT-A) group was associated with higher rate of biochemical pregnancy and clinical pregnancy than the non-PGT-A group, which were 63.9% vs. 56.4% (P = 0.009) and 54.4% vs. 45.6% (P < 0.001), respectively. The abortion rate was significantly lower in the PGT-A group compared to the non-PGT-A group (2.3% vs. 14.7%, P < 0.001). In addition, the live birth rate was significantly higher in the PGT-A group compared to the non-PGT-A group (52.1% and 30.9%, respectively, P < 0.001).
    CONCLUSIONS: Next-generation sequencing-based preimplantation genetic testing for aneuploidies significantly improved the pregnancy outcomes in women of advanced maternal age.
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  • 文章类型: Journal Article
    阐明基于下一代测序(NGS)的非整倍体植入前基因检测(PGT-A)联合滋养外胚层(TE)活检对特发性复发性妊娠丢失(iRPL)和特发性复发性植入失败(iRIF)妊娠结局的影响。我们对接受PGT-A或常规体外受精/卵胞浆内单精子注射(IVF/ICSI)治疗的212对iRPL夫妇和66对iRIF夫妇进行了回顾性队列研究.每次转移的植入率(IR)(64.2%),每次转移的临床妊娠率(CPR)(57.5%),PGT-A治疗组的iRPL夫妇每次转移的活产率(LBR)(45%)显着高于常规IVF/ICSI组(每次转移的IR,38.2%;每次转移的CPR,33.3%;每次传输的LBR,28.4%),而两组之间每次转移的妊娠损失率(PLR)相似。这些影响在具有高龄的iRPL夫妇中也是显着的(p<0.05)(AMA,≥35岁),而在年轻iRPL夫妇(<35岁)中,PGT-A组和常规IVF/ICSI组的临床结局无显著差异.PGT-A组和常规IVF/ICSI组之间iRPL夫妇的累积临床结果相当。对于患有iRIF的年轻或AMA夫妇,PGT-A组和常规IVF/ICSI组之间的任何临床结果均未发现显着差异。总之,基于NGS的PGT-A涉及TE活检可能有助于iRPL女性缩短怀孕时间并减轻其生理和心理负担,特别是对于患有AMA的iRPL女性;然而,iRIF患者可能无法从PGT-A治疗中获益.考虑到iRIF组的样本量小,我们需要更大样本量的进一步调查来验证我们的发现.
    To clarify the effect of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) combined with trophectoderm (TE) biopsy on the pregnancy outcomes of idiopathic recurrent pregnancy loss (iRPL) and idiopathic recurrent implantation failure (iRIF), we conducted a retrospective cohort study of 212 iRPL couples and 66 iRIF couples who underwent PGT-A or conventional in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) treatment. The implantation rate (IR) per transfer (64.2%), clinical pregnancy rate (CPR) per transfer (57.5%), and live birth rate (LBR) per transfer (45%) of iRPL couples of the PGT-A treatment group were significantly higher (p < 0.05) than those of the conventional IVF/ICSI group (IR per transfer,38.2%; CPR per transfer,33.3%; LBR per transfer, 28.4%), whereas the pregnancy loss rate (PLR) per transfer was similar between the two groups. These effects were also significant (p < 0.05) in iRPL couples with advanced maternal age (AMA, ≥35 years), whereas no significant differences were found in clinical outcomes between the PGT-A and conventional IVF/ICSI groups in younger iRPL couples (<35 years). The cumulative clinical outcomes of iRPL couples were comparable between the PGT-A and conventional IVF/ICSI groups. No significant differences were found in any clinical outcomes between the PGT-A and conventional IVF/ICSI groups for young or AMA couples with iRIF. In conclusion, NGS-based PGT-A involving TE biopsy may be useful for iRPL women to shorten the time to pregnancy and reduce their physical and psychological burden, especially for iRPL women with AMA; however, couples with iRIF may not benefit from PGT-A treatment. Considering the small sample size of the iRIF group, further investigations with a larger sample size are needed to verify our findings.
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