{"title":"Blocking lactate regulation of the Grhl2/SLC31A1 axis inhibits trophoblast cuproptosis and preeclampsia development","authors":"Xue-Yan Shen, Jing Huang, Li-Li Chen, Man-Ting Sha, Jing Gao, Hong Xin","doi":"10.1007/s10815-024-03256-w","DOIUrl":"https://doi.org/10.1007/s10815-024-03256-w","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Abnormal cell death due to superficial trophoblast dysfunction caused by placental hypoxia plays a vital role in the development of preeclampsia (PE). Lactic acid stimulates gene transcription in chromatin through lactate modification of histone lysine. Nevertheless, the content and function of lactate in PE development remains largely unclear.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>The contents of lactic acid and copper in 30 PE and 30 normal placentas were determined by kit colorimetry. Real-time quantitative fluorescent PCR (qRT-PCR) and Western blot were used to detect the expression of SLC31A1 in cells and tissues. Cell proliferation, apoptosis, and invasion were detected by cell counting kit 8 (CCK-8), MTS assay, colony formation assay, and Transwell assay. The transcriptional regulation between Grhl2 and SLC31A was verified by the luciferase reporter gene method and ChIP. The H3K18la modification level was detected by ChIP-PCR.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Herein, we detected increased lactic acid levels in the PE placental tissue, which inhibit the proliferation and invasion of trophoblasts. Interestingly, lactic acid increases intracellular copper content by enhancing the expression of SLC31A1, a key protein of copper ion transporters. Lentivirus knockdown of SLC31A1 blocked the lactate-induced proliferation and invasion of trophoblasts by inhibiting cell cuproptosis. Mechanically, we identified that Grhl2 mediated SLC31A1 expression through transcription and participated in SLC31A1-inhibited proliferation, invasion, and cuproptosis of trophoblasts. Furthermore, the high lactate content increased Grhl2 expression by enhancing lactate modification of histone H3K18 in the Grhl2 promoter region.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Blocking the lactate-regulated Grhl2/SLC31A1 axis and trophoblastic cuproptosis may be a potential approach to prevent and treat PE.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lu Luo, Wenjun Wang, Yan Xu, Yuanyuan Yang, Limei Zhang, Jun Gao, Jiayi Mai, Qiong Wang, Fei Gong
{"title":"Differences in preimplantation blastocyst chromosomal aberrations between polycystic ovary syndrome women and controls: a multi-center retrospective cohort study","authors":"Lu Luo, Wenjun Wang, Yan Xu, Yuanyuan Yang, Limei Zhang, Jun Gao, Jiayi Mai, Qiong Wang, Fei Gong","doi":"10.1007/s10815-024-03235-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03235-1","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Comprehensive chromosomal status of blastocyst from women with polycystic ovary syndrome (PCOS) was limited. This study aimed to identify possible differences in the preimplantation blastocyst chromosome aberrations between PCOS women and controls receiving preimplantation genetic testing (PGT).</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This was a multi-center retrospective cohort study including a total of 707 blastocysts from 147 PCOS women and 3006 blastocysts from 821 control women receiving PGT between 2015 and 2021. Embryonic chromosomal aberration spectrums were compared between PCOS and controls. Mixed effects generalized linear model was conducted to explore possible influence of PCOS-related endocrinological disorders on embryonic chromosomal abnormalities.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Blastocysts from PCOS demonstrated significantly lower aneuploidy rate (15.2% vs. 25.2% per women, <i>P</i> < 0.001; 14.7% vs. 25.4% per blastocyst, <i>P</i> < 0.001) but greater mosaicism rate (12.5% vs. 8.0% per women, <i>P</i> = 0.007; 16.5% vs. 8.7% per blastocyst, <i>P</i> < 0.001). Mixed effects generalized linear model identified PCOS as an independent protective factor against embryonic aneuploidy (adjusted odds ratio = 0.68, 95% confidence interval, 0.50<i>–</i>0.93, <i>P</i> = 0.014) but a risk factor for embryonic mosaicism (adjusted odds ratio = 1.52, 95% confidence interval 1.11<i>–</i>2.10, <i>P</i> = 0.009). Further model analysis suggested that insulin resistance could be responsible for the increased risk of embryonic mosaicism among PCOS women (adjusted odds ratio = 2.17, 95% confidence interval, 1.10<i>–</i>4.31, <i>P</i> = 0.026).</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>PCOS is associated with a lower aneuploidy risk but an increased mosaicism risk in preimplantation blastocysts, and insulin resistance should be investigated as a potential cause.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hui Mu, Haikun Yu, Song Yan, Jie Lu, Jiaqin Mao, Dan Sun, Ni Jin, Zheng Fang, Xueyan Lu, Jie Dong, Ying Su, Shuqiang Chen, Xiaohong Wang
{"title":"High concentration of estrogen resulted by COH may affect the secretion of pro-angiogenic factors in uNK cells by downregulating the expression of IL-11 in decidual stromal cells","authors":"Hui Mu, Haikun Yu, Song Yan, Jie Lu, Jiaqin Mao, Dan Sun, Ni Jin, Zheng Fang, Xueyan Lu, Jie Dong, Ying Su, Shuqiang Chen, Xiaohong Wang","doi":"10.1007/s10815-024-03241-3","DOIUrl":"https://doi.org/10.1007/s10815-024-03241-3","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Objective</h3><p>High serum estrogen concentrations after controlled ovarian hyperstimulation (COH) and fresh embryo transfers are associated with the increased risk of pregnancy complications resulting from aberrant placentation. Uterine natural killer (uNK) cells are important for establishment of pregnancy and normal placentation. It has been found that the proliferation and function of uNK cells are compromised by COH. However, the underlying role of high concentration of estrogen following COH in the abnormalities of uNK cells is poorly understood.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Expression of cytokines and immunophenotype study of uNK was performed by flow cytometry analysis. Quantitative real-time polymerase chain reaction (qRT-PCR) was performed to quantify RNA expression; Western blot was performed to quantify protein levels.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The secretion level of pro-angiogenic factors in uNK cells is significantly reduced by co-culture with decidual stromal cells (DSCs) induced by high estrogen. It was discovered that COH and supraphysiologic levels of estrogen downregulated IL-11 in decidual tissue of mice. Additionally, we found that the downregulation of IL-11 is a major factor contributing to the downregulation of VEGF and PLGF in uNK cells. Moreover, we found that uNK cells may acquire IL-11Rα sequentially during differentiation and that only a portion of uNK cells are IL-11Rα positive. Lastly, we discovered that IL-11 may regulate VEGF and PLGF secretion in uNK cells via the ERK signaling pathway.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>These results suggested the downregulation of IL-11 expression in DSCs caused by high estrogen levels affects the secretion of pro-angiogenic factors in uNK cells, which provided an explanation for the pregnancy complications caused by COH.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhaowen Zang, Jianan Lyu, Yuchen Yan, Mingwei Zhong, Qian Zhang, Guangyong Zhang, Yan Li, Junhao Yan
{"title":"Subendometrial blood flow detected by Doppler ultrasound associates with pregnancy outcomes of frozen embryo transfer in patients with thin endometrium","authors":"Zhaowen Zang, Jianan Lyu, Yuchen Yan, Mingwei Zhong, Qian Zhang, Guangyong Zhang, Yan Li, Junhao Yan","doi":"10.1007/s10815-024-03245-z","DOIUrl":"https://doi.org/10.1007/s10815-024-03245-z","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Multiple factors have been shown to influence the rate of clinical pregnancy after FET in IVF treatment, including embryo quality, synchronization of embryo and endometrium, and endometrial receptivity (ER). The subendometrial blood flow conditions could also contribute potentially major effects toward the establishment and maintenance of pregnancy. We conducted a retrospective cohort study to examine the correlation between subendometrial blood flow, as determined by Doppler ultrasound, and pregnancy outcomes in IVF patients with a thin endometrium (endometrium thickness [EMT] ≤ 0.7 cm).</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This was a retrospective cohort study conducted at a university-affiliated reproductive hospital from January 2017 to April 2023. The EMT and subendometrial blood flows were assessed using transvaginal color Doppler ultrasound and evaluated by experienced clinical ultrasound physicians on the endometrial transformation day. The pregnancy outcomes were followed up and documented in clinical medical records through the IVF cohort study at our center.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>In the patients with 0.5 cm ≤ EMT ≤ 0.7 cm, the embryo implantation rate was statistically significant increased in the patients with the presence of subendometrial blood flow (OR 1.484; 95% CI, 1.001–2.200; <i>P</i> = 0.049; aOR 1.425; 95% CI, 1.030–2.123; <i>P</i> = 0.003). Patients with discernible subendometrial blood flow have superior live birth (<i>P</i> = 0.028), clinical pregnancy (<i>P</i> = 0.049), and embryo implantation (<i>P</i> = 0.027) compared to the patients without subendometrial blood flow when the EMT is ≤ 0.7 cm.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>The presence of subendometrial blood flow detected by ultrasound was positively associated with successful embryo implantation and favorable pregnancy outcomes in patients with thin endometrium undergoing FET.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effects of intrauterine infusion of autologous platelet-rich plasma gel on endometrial thickness and outcomes of frozen-thawed embryo transfer in women with thin endometrium","authors":"Xiufen Wang, Yangyang Wang, Jing Li, Yetao Han, Minling Wei, Aike Xu, Liaobing Xin","doi":"10.1007/s10815-024-03254-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03254-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>The purpose of this study is to determine whether intrauterine infusion of autologous platelet-rich plasma (PRP) gel increases endometrial thickness (EMT) and improves the outcomes of frozen-thawed embryo transfer (FET) in women with thin endometrium.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This study included 111 women (aged 25–44 years) who had thin endometrium. All patients had at least one previous cycle canceled because of thin endometrium or previous embryo transfer cycles and an EMT < 7 mm. Forty-seven women underwent intrauterine infusion of autologous PRP gel on three occasions during endometrial preparation and the remaining women served as controls. The final EMT was measured by ultrasound before the start of the luteal phase, and FET-related outcome parameters were monitored.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Mean EMT was greater in women who received PRP gel than in those who did not (6.7 mm vs. 6.3 mm, respectively, <i>p</i> < 0.05). FET was attempted in all women. The 47 women who underwent infusion of PRP had a significantly higher pregnancy rate (18 pregnancies (38.3%), with 17 (36.2%) ongoing) compared with 64 control women (ten pregnancies (18.5%), nine (16.7%) ongoing). However, there was no significant reduction in the miscarriage rate.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Intrauterine infusion of autologous PRP gel during endometrial preparation for FET cycles can improve the EMT, clinical pregnancy rate, and ongoing pregnancy rate in women with thin endometrium.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Unlocking the potential of artificial intelligence in reproductive medicine: a bibliometric analysis from 1999 to 2024","authors":"Yi Wang, Yanggang Hong","doi":"10.1007/s10815-024-03251-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03251-1","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giulia Severi, Enrico Ambrosini, Luca Caramanna, Luigi Monti, Pamela Magini, Giovanni Innella
{"title":"Familial DMRT1-related non-obstructive azoospermia: a case report","authors":"Giulia Severi, Enrico Ambrosini, Luca Caramanna, Luigi Monti, Pamela Magini, Giovanni Innella","doi":"10.1007/s10815-024-03250-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03250-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>To report an exceptional case of male-to-male transmission of genetically based non-obstructive azoospermia (NOA) and varicocele through a naturally obtained pregnancy.</p><h3 data-test=\"abstract-sub-heading\">Subjects and methods</h3><p>A father and his son were both diagnosed with NOA after centrifugation and varicocele. The father has no other clinical concerns apart from infertility, detected after many attempts of having another child, but given his urological situation (bilateral varicocele and NOA) assisted reproductive techniques were discouraged. After genetic counseling, several genetic-chromosomal analyses were carried out in the son (karyotype, chromosome Y microdeletions, <i>CFTR</i> screening, NGS infertility panels, and finally array-CGH).</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>After a series of inconclusive tests, array-CGH detected a deletion of 224–283 kb (del9p24.3) involving part of the <i>KANK1</i> and <i>DMRT1</i> genes, inherited from the father. Haploinsufficiency of <i>DMRT1</i> was therefore considered the determining factor in the development of azoospermia in the family by a loss of function mechanism.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>The confirmation of father-to-son transmission of a deletion including <i>DMRT1</i> represents an important point for clinicians dealing with male infertility, even when complete azoospermia is repetitively detected, and must be of hope for a relevant portion of men. Inclusion criteria for the access to assisted reproductive techniques may also be reconsidered and worthy of a greater number of clinical insights. Finally, since <i>DMRT1</i> alterations have been associated with NOA and abnormal testicular development, but not specifically with varicocele, further studies are required to validate this issue, as varicocele may have played a crucial role in this case.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wenbin Wu, Menglu Ji, Jingjing Yang, Meng Zhang, Dayong Hao, Xinyan Zhao, Saisai Li, Yichun Guan, Xingling Wang
{"title":"ART altered DNA methylation of the imprinted gene H19 in fetal tissue after multifetal pregnancy reduction","authors":"Wenbin Wu, Menglu Ji, Jingjing Yang, Meng Zhang, Dayong Hao, Xinyan Zhao, Saisai Li, Yichun Guan, Xingling Wang","doi":"10.1007/s10815-024-03218-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03218-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>This study aimed to assess whether assisted reproductive technology alters DNA methylation levels at the <i>H19</i> promoter and <i>H19</i> imprinting control element (ICE) in fetal tissues obtained after multifetal pregnancy reduction.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Fetal tissues from multiple pregnancies were obtained, including fresh and frozen-thawed embryos: nine from conventional in vitro fertilization (c-IVF), four from intracytoplasmic sperm injection (ICSI), ten from cryopreserved IVF embryos (cryo-IVF), and six from cryopreserved ICSI (cryo-ICSI) embryos. Next-generation sequencing-based bisulfite PCR was used to determine the DNA methylation status of three CpG islands (<i>H19</i>-1, <i>H19</i>-2, and <i>H19</i>-3) in the <i>H19</i> promoter and <i>H19</i> ICE. The primary outcome was <i>H19</i>-1 DNA methylation status, whereas secondary outcomes assessed <i>H19</i>-2, <i>H19</i>-3, and ICE methylation.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The ICSI (β = -3.189, 95% CI = -5.034 to -1.345, <i>p</i> = 0.0026), cryo-IVF (β = -2.150, 95% CI = -3.706 to -0.593, <i>p</i> = 0.0129), and cryo-ICSI (β = -2.238, 95% CI = -3.817 to -0.659, <i>p</i> = 0.0110) groups exhibited significantly lower methylation levels in the primary outcome <i>H19</i>-1 region than the c-IVF group after adjustment. For the secondary outcome <i>H19</i>-2 region, significant decreases were observed in the cryo-IVF (β = -2.132, 95% CI = -4.071 to -0.192, <i>p</i> = 0.0425) and cryo-ICSI groups (β = -2.598, 95% CI = -4.566 to -0.630, <i>p</i> = 0.0168).</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>These findings further indicate that embryo cryopreservation and potentially ICSI can lower the methylation level of the <i>H19</i> promoter, advocating for careful use of these techniques when necessary.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zi Ren, Peng Huang, Yong Wang, Yaxin Yao, Jun Ren, Linan Xu, Jinhui Shu, Liang Zhou, Dunmei Zhao, Xiaolan Li, Zhiqiang Zhang, Chunhui Zhang, Bolan Sun, Sijia Lu, Weiping Qian, Hong Zhou, Cong Fang
{"title":"Technically feasible solutions to challenges in preimplantation genetic testing for thalassemia: experiences of multiple centers between 2019 and 2022","authors":"Zi Ren, Peng Huang, Yong Wang, Yaxin Yao, Jun Ren, Linan Xu, Jinhui Shu, Liang Zhou, Dunmei Zhao, Xiaolan Li, Zhiqiang Zhang, Chunhui Zhang, Bolan Sun, Sijia Lu, Weiping Qian, Hong Zhou, Cong Fang","doi":"10.1007/s10815-024-03240-4","DOIUrl":"https://doi.org/10.1007/s10815-024-03240-4","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>In clinical practice, the success of preimplantation genetic testing for monogenic diseases (PGT-M) for thalassemia was hindered by the absence of probands, incomplete family members, or failure in detecting embryonic gene mutation sites. This study aimed to address these issues.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This retrospective study included 342 couples undergoing PGT-M for α- or β-thalassemia at three reproductive medicine centers from 2019 to 2022. Various methods were used to construct parental haplotypes. A total of 1778 embryos were analyzed and selected for transfer based on chromosomal ploidy and PGT-M results. Follow-up involved amniocentesis results and clinical outcomes.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Haplotypes were established using DNA samples from probands or parents, as well as sibling blood samples, single sperm, and affected embryos, achieving an overall success rate was 99.4% (340/342). For α-thalassemia and β-thalassemia, the concordance between embryo single nucleotide polymorphism (SNP) haplotype analysis results and mutation loci detection results was 93.8% (1011/1078) and 98.2% (538/548), respectively. Multiple annealing and looping-based amplification cycles (MALBAC) showed a higher whole genome amplification success rate than multiple displacement amplification (MDA) (98.8% (1031/1044) vs. 96.2% (703/731), <i>p</i> < 0.001). Amniocentesis confirmed PGT-M outcomes in 100% of cases followed up (99/99).</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>This study summarizes feasible solutions to various challenging scenarios encountered in PGT-M for thalassemia, providing valuable insights to enhance success rate of PGT-M in clinical practice.</p><h3 data-test=\"abstract-sub-heading\">Graphical Abstract</h3>\u0000","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142227512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Personalized embryo transfer guided by rsERT with hourly precision improves pregnancy outcomes in patients with a receptive window of implantation: a pilot study","authors":"Tianli Yang, Zhaojuan Hou, Qiong Zhang, Jing Zhao, Nenghui Liu, Donge Liu, Yumei Li, Yonggang Wang, Bin Xu, Yangyun Zou, Cheng Wan, Yanping Li","doi":"10.1007/s10815-024-03246-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03246-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>To investigate whether personalized embryo transfer (pET) predicted by a modified RNA-sequencing-based endometrial receptivity test (rsERT) model can improve intrauterine pregnancy rate (IPR) in patients with a receptive window of implantation (WOI).</p><h3 data-test=\"abstract-sub-heading\">Design</h3><p>A retrospective pilot study was conducted in the Center for Reproductive Medicine, Central South University, from January 2018 to December 2023. A total of 524 patients with receptive WOI results from rsERT were assigned into two groups based on whether they underwent conventional embryo transfer (conventional ET) or pET. Patients in the conventional ET were matched with those in the pET group at a 1:1 ratio using propensity score matching (PSM).</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Before PSM, the IPR (55.73% vs. 46.19%, <i>P</i> = 0.032) and implantation rate (IR) (47.51% vs. 34.03%, <i>P</i> = 0.000) in the pET group were significantly higher than that in the conventional ET group. However, the number and types of transferred embryos differed significantly between the two groups. After adjusting for confounding factors, IPR (57.38% vs. 44.81, <i>P</i> = 0.016) and IR (46.81% vs. 33.10%, <i>P</i> = 0.001) remained significantly higher in the pET group compared to the conventional ET group. The implantation failure rate was significantly lower in the pET group compared to controls (42.62% vs. 55.19%, <i>P</i> = 0.016). Additionally, the multiple-pregnancy rate was significantly higher in the pET group compared to the conventional ET group (10.29% vs. 1.68%, <i>P</i> = 0.001).</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Women with receptive WOI results could benefit from the receptivity-timed pET predicted by the newly refined rsERT. These findings provide a basis for future research in precision medicine for embryo transfer.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}