Journal of Assisted Reproduction and Genetics最新文献

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Beyond the egg: sperm source does not impact cumulative live birth rates in autologous oocyte cryopreservation patients when adjusted for oocyte age. 卵子之外:根据卵母细胞年龄进行调整后,精子来源不会影响自体卵母细胞冷冻保存患者的累积活产率。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-11 DOI: 10.1007/s10815-024-03310-7
Jillian Pecoriello, Amelia Kelly, Jennifer Blakemore, Sarah Cascante
{"title":"Beyond the egg: sperm source does not impact cumulative live birth rates in autologous oocyte cryopreservation patients when adjusted for oocyte age.","authors":"Jillian Pecoriello, Amelia Kelly, Jennifer Blakemore, Sarah Cascante","doi":"10.1007/s10815-024-03310-7","DOIUrl":"https://doi.org/10.1007/s10815-024-03310-7","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the impact of sperm source on cumulative live birth rate (CLBR) after oocyte thaw in autologous oocyte cryopreservation (AOC) patients.</p><p><strong>Methods: </strong>A retrospective cohort study of autologous oocyte thaw patients at an urban academic fertility center from 2006 to 2021. Patients were stratified by sperm source [partner sperm (PS) vs. donor sperm (DS)]. The primary outcome was CLBR per patient. Secondary outcomes were the oocyte survival rate and usable embryo rate. Statistics included Mann-Whitney U, Kruskal-Wallis, Fisher's exact, chi-square, two-sample t-tests, and multiple logistic regression (p < 0.05).</p><p><strong>Results: </strong>A total of 653 patients were included; 455 (69.7%) used PS and 198 (30.3%) used DS. Time from the first AOC to the first thaw did not differ among DS and PS users (56.8 vs. 54.0 months, p = 0.20). PS users were younger at AOC (37.9 vs. 38.5 years, p < 0.001) and thaw (42.3 vs. 43.1 years, p < 0.001). There were equivalent overall CLBRs (39.9% PS vs. 40.6% DS, p = 0.85) and CLBRs in patients < 35 years at AOC (51.2% PS vs. 100% DS, p = 0.18), 35-37 years at AOC (45.9% PS vs. 60.4% DS, p = 0.10), 38-40 years at AOC (35.4% PS vs. 35.2% DS, p = 0.93), 41-42 years at AOC (28.9% PS vs 14.3% DS, p = 0.21), and > 43 years at AOC (12.5% PS vs 16.7% DS, p = 0.83) among PS and DS users. There were no significant differences in the oocyte survival (79% PS vs 80.5% DS, p = 0.08) or the proportion of patients with usable embryos (27.3% vs 27.8%, p = 0.70) between PS and DS groups.</p><p><strong>Conclusions: </strong>In AOC patients, CLBR, oocyte survival rate, and usable embryo rate did not differ based on sperm source.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621173","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}
引用次数: 0
Exogenous progesterone rescue in patients with low mid-luteal serum progesterone levels undergoing true natural vitrified-warmed blastocyst transfer. 对黄体中期血清孕酮水平低的患者进行外源性孕酮救助,以进行真正的自然玻璃化温化囊胚移植。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-09 DOI: 10.1007/s10815-024-03309-0
Murat Erden, Sezcan Mumusoglu, Irem Yarali Ozbek, Onur Ince, Sandro C Esteves, Peter Humaidan, Hakan Yarali
{"title":"Exogenous progesterone rescue in patients with low mid-luteal serum progesterone levels undergoing true natural vitrified-warmed blastocyst transfer.","authors":"Murat Erden, Sezcan Mumusoglu, Irem Yarali Ozbek, Onur Ince, Sandro C Esteves, Peter Humaidan, Hakan Yarali","doi":"10.1007/s10815-024-03309-0","DOIUrl":"https://doi.org/10.1007/s10815-024-03309-0","url":null,"abstract":"<p><strong>Purpose: </strong>To explore whether a 25 mg subcutaneous progesterone daily rescue daily improves the reproductive outcomes in patients with low serum progesterone (P<sub>4</sub>) levels (7-10 ng/mL), measured one day before true natural cycle (t-NC) frozen embryo transfer (FET).</p><p><strong>Methods: </strong>A cohort study of 192 women undergoing t-NC warmed blastocyst transfer. Patients were stratified into three different groups based on serum P<sub>4</sub> levels on the FET-1 day: patients who had serum P<sub>4</sub> levels of 7-10 ng/mL and underwent rescue progesterone administration (rescue group), patients with serum P<sub>4</sub> levels of 7-10 ng/mL without progesterone administration (non-rescue group), and patients with serum P<sub>4</sub> > 10 ng/mL on FET-1 day (control group). The primary outcome was possible differences in live birth rate (LBR) between groups.</p><p><strong>Results: </strong>The LBRs for the serum P<sub>4</sub> 7-10 ng/mL without rescue, 7-10 ng/mL with rescue, and > 10 ng/mL (control) groups were 41%, 46%, and 52%, respectively (p = 0.61). The estimated adjusted probability of live birth for serum P<sub>4</sub> 7-10 ng/mL without rescue, 7-10 ng/mL with rescue, and > 10 ng/mL (control) groups were also comparable: 43.5% (95% CI, 20.0-70.4%), 49.8% (95% CI, 28.1-71.6%), and 57.4% (95% CI, 44.0-69.8%), respectively.</p><p><strong>Conclusion: </strong>Serum P<sub>4</sub> levels higher than 7 ng/mL seem to secure LBRs in patients undergoing t-NC FET. A rescue policy consisting of a daily subcutaneous 25 mg progesterone dose in patients with serum P<sub>4</sub> levels 7-10 ng/mL does not further enhance LBRs when compared to those patients with similar serum P<sub>4</sub> levels without rescue.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621192","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}
引用次数: 0
Human oocyte zona pellucida abnormalities: evaluation of clinical impact for different zona pellucida abnormalities and role of using assisted hatching. 人类卵母细胞透明带异常:评估不同透明带异常的临床影响和使用辅助孵化的作用。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-09 DOI: 10.1007/s10815-024-03306-3
Huihui Wang, Guang Yang, Ran Jiang, Jun Zhai, Haixia Jin, Wenyan Song, Senlin Shi, Junnan Fang, Tongwei Zhang, Jingyi Hu, Yue Kong, Jiahuan He, Ning Song, Zhaoting Wu, Xianju Huang, Lin Qi, Guidong Yao
{"title":"Human oocyte zona pellucida abnormalities: evaluation of clinical impact for different zona pellucida abnormalities and role of using assisted hatching.","authors":"Huihui Wang, Guang Yang, Ran Jiang, Jun Zhai, Haixia Jin, Wenyan Song, Senlin Shi, Junnan Fang, Tongwei Zhang, Jingyi Hu, Yue Kong, Jiahuan He, Ning Song, Zhaoting Wu, Xianju Huang, Lin Qi, Guidong Yao","doi":"10.1007/s10815-024-03306-3","DOIUrl":"https://doi.org/10.1007/s10815-024-03306-3","url":null,"abstract":"<p><strong>Background: </strong>Zona pellucida (ZP) plays an important role in oocyte development and fertilisation, as well as in early embryo development. However, there is currently no exploration of systematic categorising and clinical treatment measures for patients with abnormal ZP, especially the fast and easy method that can be used clinically.</p><p><strong>Methods: </strong>In this study, 185 patients with abnormal ZP (ZPA) and 222 patients with normal ZP (ZPN) were enrolled and analysed.</p><p><strong>Results: </strong>Patients with ZPA exhibited altered hormone levels and lower laboratory outcomes in in vitro fertilisation (IVF), such as reduced MII rate, cleavage rate, high-quality embryo rate, and blastocyst formation rate compared to ZPN group. ZPA patients were sub-categorised into ZPA-A/B/C/D group according to the status of oocyte polar body and the width of perivitelline space (PVS). There are also differences in the degree of sperm binding to ZP derived from different ZPA patients and the elasticity of the oocyte membrane. ZPA subgroup analysis revealed further disparities in various IVF parameters and pregnancy outcomes. In addition, by performing different treatments on oocytes derived from ZPA patients, we found that ZP assisted hatching before the first oocyte cleavage on D1 of embryonic development in the ZPA-A/B groups and before blastocyst expansion on D4 of embryonic development in the ZPA-C/D groups were beneficial to improve embryonic development.</p><p><strong>Conclusion: </strong>The degree of the impact on clinical outcomes is correlated with the types of ZPA, and laser-assisted hatching of the ZP helps to improve embryonic development in patients with ZPA.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621196","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}
引用次数: 0
Impact of perceived social support on anxiety and depression in women undergoing in vitro fertilization-embryo transfer: the role of psychological resilience. 体外受精-胚胎移植妇女感知到的社会支持对焦虑和抑郁的影响:心理复原力的作用。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-06 DOI: 10.1007/s10815-024-03308-1
Yuying Yan, Ya Ma, Lidan Xu, Yuehong Lv
{"title":"Impact of perceived social support on anxiety and depression in women undergoing in vitro fertilization-embryo transfer: the role of psychological resilience.","authors":"Yuying Yan, Ya Ma, Lidan Xu, Yuehong Lv","doi":"10.1007/s10815-024-03308-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03308-1","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to analyze the current status of women's perception of social support levels, psychological resilience, anxiety, and depression levels during IVF-ET, as well as investigate the influence of perceived social support and psychological resilience on the anxiety and depression levels of women undergoing IVF-ET and the mediating role of psychological resilience in this process.</p><p><strong>Methods: </strong>In this study, a convenience sampling method was used to administer a questionnaire survey among 433 women undergoing IVF-ET. Then, multivariate linear regression models were applied to identify factors influencing anxiety and depression. Lastly, mediation effect analysis was conducted to explore the mediating role of psychological resilience.</p><p><strong>Results: </strong>The incidence of anxiety and depression was 42% and 46.4%, respectively. The mean score of the Perceived Social Support Scale (PSSS) indicated a high to moderate level of support, while the mean score of the Conner-Davidson Resilience Scale (CD-RISC) suggested moderate psychological resilience. Perceived social support was positively correlated with psychological resilience, and both were negatively correlated with anxiety and depression. Perceived social support and psychological resilience were identified as influencing factors of anxiety and depression (P < 0.001). Moreover, there was a partial mediating effect of psychological resilience between perceived social support and both anxiety and depression (P < 0.01).</p><p><strong>Conclusions: </strong>These results highlight the need for healthcare providers to assess patients' levels of psychological resilience and perceived social support when developing mental health interventions in order to mitigate the risk of anxiety and depression and concomitantly enhance fertility outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590820","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}
引用次数: 0
ICSI and PGT-A in PCOS phenotype-D patients: a matched case-control study versus idiopathic infertile women. 多囊卵巢综合征表型-D 患者的 ICSI 和 PGT-A:与特发性不孕妇女的匹配病例对照研究。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-04 DOI: 10.1007/s10815-024-03299-z
Alberto Vaiarelli, Danilo Cimadomo, Cecilia Rucci, Federica Innocenti, Marilena Taggi, Erika Pittana, Giulia Fiorentino, Pasquale Petrone, Daria Maria Soscia, Gemma Fabozzi, Rossella Mazzilli, Laura Rienzi, Filippo Maria Ubaldi, Rossella Elena Nappi, Gianluca Gennarelli
{"title":"ICSI and PGT-A in PCOS phenotype-D patients: a matched case-control study versus idiopathic infertile women.","authors":"Alberto Vaiarelli, Danilo Cimadomo, Cecilia Rucci, Federica Innocenti, Marilena Taggi, Erika Pittana, Giulia Fiorentino, Pasquale Petrone, Daria Maria Soscia, Gemma Fabozzi, Rossella Mazzilli, Laura Rienzi, Filippo Maria Ubaldi, Rossella Elena Nappi, Gianluca Gennarelli","doi":"10.1007/s10815-024-03299-z","DOIUrl":"https://doi.org/10.1007/s10815-024-03299-z","url":null,"abstract":"<p><strong>Purpose: </strong>To assess oocyte competence and embryo chromosomal constitution in phenotype-D PCOS women undergoing ICSI for PGT-A at the blastocyst stage.</p><p><strong>Methods: </strong>Retrospective study at a private IVF center. In the period 2013-2021, 58 naïve phenotype-D PCOS women (i.e., oligomenorrhea, ovarian PCO-morphology, and absence of hyperandrogenism) underwent ICSI with ejaculated sperm for PGT-A. These cases were matched to 58 controls selected from 2211 naïve women with idiopathic infertility planned for the same treatment in the same period. The matching variables were age (≈ 36 years), BMI (≈ 22), cumulus oocyte complexes (COCs) retrieved (≈ 21-23), and sperm quality (≈ 43-45% men with all sperm parameters > 5th percentile). The primary outcome was euploid blastocyst rate (EBR) per cohort of inseminated oocytes.</p><p><strong>Results: </strong>Maturation rates per COCs and euploidy per biopsied blastocysts were similar. PCOS patients with phenotype-D showed higher fertilization per inseminated oocytes and higher blastulation per zygotes. This resulted into a higher EBR per inseminated oocytes and more euploid blastocysts available for transfer, although these differences adjusted for confounders were not significant. The live birth rate per first euploid transfers was comparable, so were all other outcomes considered.</p><p><strong>Conclusions: </strong>Oocyte competence was not compromised in phenotype-D PCOS women, while good prognosis idiopathic infertile women might have unknown oocyte issues. In case of repeated failures after intrauterine insemination, a timely referral to IVF might represent an efficient strategy, in line with the \"one-and-done\" approach fulfilling a family planning perspective. Indeed, 22% of the phenotype-D PCOS women had 2 singleton LBs and 76% had surplus oocytes/euploid blastocysts after achieving ≥ 1 live birth.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568733","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}
引用次数: 0
A repeated gonadotropin-releasing hormone agonist trigger improves pregnancy outcomes of frozen-thawed embryo transfer in GnRH antagonist cycles: a retrospective propensity-matched score analysis. 重复促性腺激素释放激素激动剂触发可改善 GnRH 拮抗剂周期中冻融胚胎移植的妊娠结局:一项回顾性倾向匹配评分分析。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-02 DOI: 10.1007/s10815-024-03269-5
Ao Wang, Xing-Yu Zhou, Yun-Hui Lai, Lin-Zi Ma, Jun Zhang, Song-Yu Huang, Xiao-Fei Zhang, Pei-Ru Chen, An-Lan Wang, Zhe Wang, Yu-Dong Liu, Shi-Ling Chen
{"title":"A repeated gonadotropin-releasing hormone agonist trigger improves pregnancy outcomes of frozen-thawed embryo transfer in GnRH antagonist cycles: a retrospective propensity-matched score analysis.","authors":"Ao Wang, Xing-Yu Zhou, Yun-Hui Lai, Lin-Zi Ma, Jun Zhang, Song-Yu Huang, Xiao-Fei Zhang, Pei-Ru Chen, An-Lan Wang, Zhe Wang, Yu-Dong Liu, Shi-Ling Chen","doi":"10.1007/s10815-024-03269-5","DOIUrl":"https://doi.org/10.1007/s10815-024-03269-5","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate whether co-treatment of repeated GnRHa triggers with GnRH antagonist protocols can improve the clinical outcomes in in vitro fertilization/intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET) procedures.</p><p><strong>Methods: </strong>In this retrospective study, 712 Chinese Han women aged 20-42 undergoing autologous IVF/ICSI-ET with a flexible GnRH antagonist protocol were analyzed. The 735 cycles were split into the single (n = 238) and the repeated (n = 497) GnRHa groups. In the single GnRHa group, 0.2 mg of triptorelin was given for oocyte maturation, whereas in the repeated GnRHa group, two doses of 0.2 mg were administered 12 h apart. PSM design was used for a fair comparison. The main study outcomes included the clinical pregnancy rate (CPR), live birth rate (LBR), good-quality embryo rate, and fertilization rate. Multivariate logistic regression analyses were used to identify all potential factors affecting clinical outcomes.</p><p><strong>Results: </strong>Post-PSM, analysis of 159 cycles per group showed the repeated GnRHa group outperforming the single GnRHa group in IVF fertilization rates (71.5% vs. 67.7%, P < 0.05) and good-quality embryo rate (47.1% vs. 43.7%, P < 0.05). Furthermore, the repeated GnRHa group achieved higher CPR (72.6% vs. 53.4%, P < 0.05) and LBR (59.7% vs. 43.8%, P < 0.05) in FET cycles. Multivariate logistic regression indicated a significant negative correlation between the use of a single GnRHa trigger and both clinical pregnancy (OR = 0.382, P < 0.05) and live birth (OR = 0.518, P < 0.05).</p><p><strong>Conclusion: </strong>Our study reported that individuals who received a repeated GnRHa trigger exhibited higher CPR and LBR during FET cycles compared to those who received a single dose GnRHa trigger.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564527","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}
引用次数: 0
Comparison of chromatin accessibility remodeling of granulosa cells in patients with endometrioma or pelvic/tubal infertility. 子宫内膜异位症或盆腔/输卵管不孕患者颗粒细胞染色质可及性重塑的比较。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-11-01 DOI: 10.1007/s10815-024-03302-7
Songbang Ou, Xuedan Jiao, Yi Li, Ping Pan, Ruiqi Li, Jia Huang, Xiaoyue Sun, Wenjun Wang, Qingxue Zhang, Chunwei Cao, Lina Wei
{"title":"Comparison of chromatin accessibility remodeling of granulosa cells in patients with endometrioma or pelvic/tubal infertility.","authors":"Songbang Ou, Xuedan Jiao, Yi Li, Ping Pan, Ruiqi Li, Jia Huang, Xiaoyue Sun, Wenjun Wang, Qingxue Zhang, Chunwei Cao, Lina Wei","doi":"10.1007/s10815-024-03302-7","DOIUrl":"https://doi.org/10.1007/s10815-024-03302-7","url":null,"abstract":"<p><strong>Purpose: </strong>To elucidatethe epigenetic alteration associated with impaired oogenesis in endometrioma using multi-omic approaches.</p><p><strong>Methods: </strong>ATAC-seq was performed on the granulosa cells (GCs) of 6 patients (3 with endometrioma and 3 without). Follicular samples from another 20 patients (10 with endometrioma and 10 without) were collected for mRNA-seq analysis of GCs and extracellular vesicles (EVs) of follicular fluid. qRT-PCR validated candidate genes in GCs from 44 newly enrolled patients (19 with endometrioma and 25 without). mRNA abundance was compared with the Mann-Whitney test. Pearson's correlation analyzed relationships between candidate genes and oocyte parameters.</p><p><strong>Results: </strong>Chromatin accessibility and gene expression profiles of GCs from endometrioma patients differed significantly from the pelvic/tubal infertility group. RNA-seq revealed most differentially expressed genes were downregulated (6216/7325) and enriched in the cellular localization pathway. Multi-omics analyses identified 22 significantly downregulated genes in the GCs of endometrioma patients, including PPIF (P < 0.0001) and VEGFA (P = 0.0148). Both genes were further confirmed by qRT-PCR. PPIF (r = 0.46, p = 0.043) and VEGFA (r = 0.45, p = 0.048) correlated with the total number of retrieved oocytes.</p><p><strong>Conclusions: </strong>GC chromatin remodeling may disrupt GC and EV transcriptomes, interfering with somatic cell-oocyte communication and leading to compromised oogenesis in endometrioma patients.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562474","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}
引用次数: 0
Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure. PATL2 和 WEE2 的新型剪接突变会导致卵母细胞退化和受精失败。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-10-30 DOI: 10.1007/s10815-024-03260-0
Zhenxing Liu, Lixia Zhu, Hui He, Meiqi Hou, Weimin Jia, Lei Jin, Qingsong Xi, Xianqin Zhang
{"title":"Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.","authors":"Zhenxing Liu, Lixia Zhu, Hui He, Meiqi Hou, Weimin Jia, Lei Jin, Qingsong Xi, Xianqin Zhang","doi":"10.1007/s10815-024-03260-0","DOIUrl":"https://doi.org/10.1007/s10815-024-03260-0","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the genetic cause of infertility in two unrelated families of female patients suffering from oocyte degeneration and fertilization failure.</p><p><strong>Methods: </strong>Whole exome sequencing and Sanger sequencing were performed to identify the disease-causing genes of infertility in two unrelated female patients. Minigene experiments were conducted to confirm the effect of splice site mutations on mRNA splicing.</p><p><strong>Results: </strong>In two unrelated female infertility patients, a novel compound heterozygous splicing mutation (c.516-1G > T and c.877-1G > A) in PATL2 gene and a novel homozygous splicing mutation (c.1222-1G > A) in WEE2 gene were identified. Minigene splicing assays revealed that the c.516-1G > T mutation in PATL2 resulted in a deletion of 8 bases in mRNA that causes a frameshift (c.516-523delTCCCCCAG, p.P173Q fs*13). The c.877-1G > A mutation led to the skipping of exons 10 and 11 and retention of introns 8-9 in PATL2 mRNA. The c.1222-1G > A mutation resulted in the deletion of exon 9 in WEE2 mRNA, leading to an in-frame deletion of 57 amino acids in the WEE2 protein (p.408-464del).</p><p><strong>Conclusion: </strong>Our study discovered novel splicing mutations in PATL2 and WEE2, further expanding the mutation spectrum of these two genes and providing guidance for genetic counseling and diagnosis of female infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545673","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}
引用次数: 0
Reproductive outcomes after preimplantation genetic testing in couples with sex chromosome abnormalities: a retrospective cohort study of 83 couples. 性染色体异常夫妇植入前基因检测后的生殖结果:对 83 对夫妇的回顾性队列研究。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-10-30 DOI: 10.1007/s10815-024-03303-6
Tianying Yang, Min Xiao, Xiaoxi Sun, He Li
{"title":"Reproductive outcomes after preimplantation genetic testing in couples with sex chromosome abnormalities: a retrospective cohort study of 83 couples.","authors":"Tianying Yang, Min Xiao, Xiaoxi Sun, He Li","doi":"10.1007/s10815-024-03303-6","DOIUrl":"https://doi.org/10.1007/s10815-024-03303-6","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the effects of parental sex chromosome abnormality on their preimplantation embryos.</p><p><strong>Methods: </strong>This is a retrospective cohort study including 83 couples with sex chromosome abnormalities undergoing preimplantation genetic testing (PGT) between 2013 to 2023. The preimplantation genetic testing results and pregnancy outcomes were compared to those of a control group consisting of 166 age-matched couples with normal karyotypes who underwent preimplantation genetic testing for monogenic disorders (PGT-M). Student's t-tests, chi-square or Fisher's exact tests were applied to compare clinical characteristics.</p><p><strong>Results: </strong>The embryo euploidy rate was lower (58.94% vs 65.44%, P = 0.048, OR 0.76, 95%CI [0.58,0.99]) and the sex chromosomal aneuploidy rate was higher in the couples with sex chromosome abnormalities than control group (6.62% vs 2.63%, P = 0.004, OR 2.63, 95%CI [1.37,5.05]). The pregnancy outcomes including clinical pregnancy rates (48.57% vs 57.25%, P = 0.305) and live birth rates (47.14% vs 52.90%, P = 0.465) were similar between the two groups in their first embryo transfer cycles.</p><p><strong>Conclusions: </strong>To avoid high risk of embryo aneuploidy and sex chromosome abnormalities, preimplantation genetic testing should be recommended to couples with sex chromosome abnormalities.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545683","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}
引用次数: 0
Trace elements exposure affects the outcomes of in vitro fertilization embryo transfer, a cohort study in Northern China. 微量元素暴露对体外受精胚胎移植结果的影响,一项在中国北方进行的队列研究。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-10-30 DOI: 10.1007/s10815-024-03300-9
Ying Li, Lin Liu, Jun Zhang, Yonglian Lan, Yu Liang, Shuyu Wang, Miaomiao Chen, Yanbin He, Meng Zhang, Xin Wang, Yipeng Wang
{"title":"Trace elements exposure affects the outcomes of in vitro fertilization embryo transfer, a cohort study in Northern China.","authors":"Ying Li, Lin Liu, Jun Zhang, Yonglian Lan, Yu Liang, Shuyu Wang, Miaomiao Chen, Yanbin He, Meng Zhang, Xin Wang, Yipeng Wang","doi":"10.1007/s10815-024-03300-9","DOIUrl":"https://doi.org/10.1007/s10815-024-03300-9","url":null,"abstract":"<p><strong>Purpose: </strong>With urbanization and industrialization process accelerated, humans are exposed more and more trace elements. This study aimed to explore the potential associations of trace elements with the outcomes of in vitro fertilization embryo transfer (IVF-ET).</p><p><strong>Methods: </strong>Total 181 women who underwent IVF-ET were enrolled, among which 89 women underwent fresh ET after IVF. Trace elements were measured in the serum and follicular fluid (FF) samples by inductively coupled plasma-mass spectroscopy. The associations of the levels of different trace elements with IVF-ET outcomes, including normal fertilization, high-quality embryos, and clinical pregnancy (fresh ET) were analyzed.</p><p><strong>Results: </strong>Twenty-five out of twenty-eight trace elements showed higher concentrations in the serum than those in the FF. Normal fertilization was positively associated with Cu and Mn in the FF. High-quality embryos was positively associated with Cu in the serum and FF, and Zn in the serum. Clinical pregnancy was positively associated with Ge in the serum, and inversely associated with Al, Ba, and Pb in the serum. Additionally, poor outcomes of IVF-ET should be noticed in women with FF level of Cu < 955.38 ng/mL, FF level of Mn < 3.42 ng/mL, serum level of Ge < 6.11 ng/mL, serum level of Al > 28.44 ng/mL, and serum level of Pb > 0.90 ng/mL.</p><p><strong>Conclusions: </strong>IVF-ET outcomes were positively associated with Cu, Mn, Zn, and Ge, and inversely associated with Al and Pb. Properly controlling the exposure of relevant trace elements is necessary for patients with the need of IVF-ET.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545684","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}
引用次数: 0
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