Journal of Assisted Reproduction and Genetics最新文献_第10页

Successful pre-implantation genetic testing for autosomal recessive cutis laxa: clinical utility of a multidisciplinary team approach. 成功的胚胎植入前基因检测常染色体隐性皮肤松弛症：多学科团队方法的临床应用。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-06-30 DOI: 10.1007/s10815-025-03565-8

Qiuxiang Huang, Xiurong Yu, Lihua Mao, Chunli Lin, Caixia Wang, Juan Lin, Yun Liu, Zhihong Wang

{"title":"Successful pre-implantation genetic testing for autosomal recessive cutis laxa: clinical utility of a multidisciplinary team approach.","authors":"Qiuxiang Huang, Xiurong Yu, Lihua Mao, Chunli Lin, Caixia Wang, Juan Lin, Yun Liu, Zhihong Wang","doi":"10.1007/s10815-025-03565-8","DOIUrl":"10.1007/s10815-025-03565-8","url":null,"abstract":"Purpose: Pre-implantation genetic testing for monogenic disorders (PGT-M) enables couples at risk of transmitting serious genetic disorders to their offspring to give birth to healthy children. Here, we present an illustrative case of the use of PGT-M in a couple who were both carriers of autosomal recessive cutis laxa (ARCL) and describe the application of PGT-M in our reproductive center using a multidisciplinary team approach.Methods: The couple experienced four adverse pregnancy outcomes, and both partners were subsequently identified as carriers of ARCL caused by PYCR1 gene variants during a genetic evaluation. They chose PGT-M after counseling and being fully informed of the potential risks and benefits. Trophectoderm cells were biopsied on day 5 or 6 and whole-genome amplification was performed using multiple annealing and looping-based amplification cycles (MALBAC). Mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA) was used to detect the copy number variations and the carrier status of the PYCR1 gene. Prenatal diagnosis was performed to validate the PGT-M results. Psychological support was provided throughout.Results: PGT-M was successfully performed, and transfer of a euploid blastocyst carrying a paternal variant in the third cycle resulted in a pregnancy. Prenatal diagnosis confirmed the PGT-M results. The woman gave birth to a healthy boy with normal skin and growth and developmental milestones.Conclusion: This study illustrates the clinical applicability of PGT-M in ARCL carrier couples, highlighting the importance of multidisciplinary consultation, and the implementation of comprehensive genetic counseling protocols and tailored psychosocial interventions.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2575-2585"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Assessing the risk of ectopic pregnancy following euploid frozen embryo transfer: a retrospective cohort study. 评估整倍体冷冻胚胎移植后异位妊娠的风险：一项回顾性队列研究。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-06-20 DOI: 10.1007/s10815-025-03560-z

A Salame, B Lawrenz, E Kalafat, R Del Gallego, I ElKhatib, A Bayram, H Fatemi

{"title":"Assessing the risk of ectopic pregnancy following euploid frozen embryo transfer: a retrospective cohort study.","authors":"A Salame, B Lawrenz, E Kalafat, R Del Gallego, I ElKhatib, A Bayram, H Fatemi","doi":"10.1007/s10815-025-03560-z","DOIUrl":"10.1007/s10815-025-03560-z","url":null,"abstract":"Purpose: To evaluate possible risk factors for an ectopic pregnancy after euploid frozen embryo transfer (FET) at blastocyst stage.Methods: Retrospective cohort study of women with a positive pregnancy test after euploid frozen embryo transfer at blastocyst stage between April 2017 and June 2023.Results: An ectopic pregnancy occurred in 21 patients (1.19%) out of 1758 patients. Patient characteristics age, BMI, smoking status, infertility type, cycle/embryo characteristics (type of endometrial preparation and embryo quality), and presence of an isthmocele (yes/no) were not significantly different between the patients with versus without an ectopic pregnancy. The ratio measured to expected hCG levels was significantly lower in patients with ectopic pregnancy when compared to those with clinical pregnancy (0.7 vs 1, P < 0.001). The multinomial regression analysis showed increased odds of an ectopic pregnancy (EP) compared to an ongoing clinical pregnancy with lower observed/expected hCG levels in both single and double embryo transfers (OR, 0.4; 95% CI, 0.07-0.25; P < 0.001 and OR, 0.16; 95% CI, 0.09-0.30; P < 0.001).Conclusion: The risk of ectopic pregnancy in euploid frozen embryo transfer cycles at the blastocyst stage is comparable to spontaneous conceptions. Despite the huge sample size of euploid FET cycles, due to the very low number of ectopic pregnancies, we were unable to identify a particular risk factor for ectopic implantation.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2657-2664"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Treatment with isotretinoin can improve de novo sperm production in nonobstructive azoospermia or cryptozoospermia. 异维甲酸治疗可改善非阻塞性无精子症或隐精子症患者的新生精子产生。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-07-19 DOI: 10.1007/s10815-025-03567-6

Catherine Molly Jessup, John K Amory, Paul J Turek

{"title":"Treatment with isotretinoin can improve de novo sperm production in nonobstructive azoospermia or cryptozoospermia.","authors":"Catherine Molly Jessup, John K Amory, Paul J Turek","doi":"10.1007/s10815-025-03567-6","DOIUrl":"10.1007/s10815-025-03567-6","url":null,"abstract":"Purpose: Retinoic acid (RA), a metabolite of vitamin A, is required for mammalian spermatogenesis. Clinically, intratesticular RA concentrations are lower in infertile men. In pilot studies, RA treatment is associated with increased ejaculated sperm counts in men with oligospermia and with de novo ejaculated sperm in nonobstructive azoospermia (NOA). We evaluated whether oral isotretinoin could improve sperm production in men with NOA and cryptozoospermia.Methods: Single-center, prospective, repeated measures analysis of infertile men with NOA or cryptozoospermia who received isotretinoin (20 mg twice daily) and had metabolic and semen evaluations over 3-9 months. All etiologies of infertility were included, as were subjects with prior sperm retrieval procedures. The primary endpoint was attaining reliable motile ejaculated sperm for IVF-ICSI.Results: Among n = 30 consecutive men undergoing isotretinoin treatment, 26 (87%) were azoospermic and 4 (13%) were intermittently cryptozoospermic. Among azoospermic men, 24 (92%) had prior testicular procedures and 6 (23%) had a history of cryptozoospermia. Overall, 11/30 (37%) of patients developed reliable, motile ejaculated sperm counts with treatment. When evaluating biopsy histology, those with maturation arrest patterns had the highest response (6/11 or 54%) to therapy. Side effects included 30 (100%) men with dry skin/chapped lips, 4 (13%) rashes, 14 (47%) irritability, and 5 (17%) with altered cholesterol panels.Conclusion: Intratesticular retinoic acid deficiency may underlie some forms of severe male factor infertility. Treatment with isotretinoin increases sperm production in some men with NOA or cryptozoospermia to the point of obviating the need for testicular sperm retrieval procedures.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2793-2799"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The obstetrical and infant outcomes of trophectoderm biopsy on preimplantation genetic testing embryos after frozen single embryo transfer cycles. 冷冻单胚胎移植周期后植入前基因检测胚胎的滋养外胚层活检的产科和婴儿结局。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-07-09 DOI: 10.1007/s10815-025-03512-7

Rui Yang, Jiaxiang Wang, Chang Gao, Tian Tian, Zichuan Han, Nan Zhang, Jia Li, Lixue Chen, Rong Li, Ping Liu, Jie Qiao, Ying Wang

{"title":"The obstetrical and infant outcomes of trophectoderm biopsy on preimplantation genetic testing embryos after frozen single embryo transfer cycles.","authors":"Rui Yang, Jiaxiang Wang, Chang Gao, Tian Tian, Zichuan Han, Nan Zhang, Jia Li, Lixue Chen, Rong Li, Ping Liu, Jie Qiao, Ying Wang","doi":"10.1007/s10815-025-03512-7","DOIUrl":"10.1007/s10815-025-03512-7","url":null,"abstract":"Purpose: To investigate if trophectoderm (TE) biopsy on preimplantation genetic testing (PGT) increases the risk of obstetrical and infant outcomes after frozen single blastocyst transfer cycles.Methods: This retrospective cohort study included all frozen single blastocyst transfer cycles conducted between January 2012 and December 2017 at Peking University Third Hospital. A total of 1492 patients in the PGT group and 600 patients in the non-PGT group were analyzed. The primary outcomes were clinical pregnancy rate, live birth rate, and early motor development milestones. Secondary outcomes included miscarriage, obstetric complications, and infant outcomes.Results: The PGT group had younger parental ages and higher antral follicle counts, whereas the non-PGT group had lower sperm quality. The clinical pregnancy rate (52.7 vs. 45.2%, p = 0.002) and live birth rate (44.0 vs. 32.8%, p < 0.001) were significantly higher in the PGT group, while the miscarriage rate (13.6 vs. 22.5%, p < 0.001) was lower. In terms of early motor development, infants in the PGT group achieved milestones such as independent sitting, hand and knee crawling, and standing earlier (p < 0.001), although the timing of independent walking did not significantly differ between groups (p = 0.304). No significant differences were found between the two groups regarding pregnancy complications, infant outcomes, or early motor development. These findings were further confirmed through adjusted analyses.Conclusion: PGT was associated with higher live birth rate and lower miscarriage rate in first single blastocyst transfer cycles. Blastocyst biopsy may not increase the risk of pregnancy complications or negatively impact early motor development in infants.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2685-2693"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Deconvolving the methodological madness that is PGT-A. 解卷积PGT-A的方法论疯狂。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 DOI: 10.1007/s10815-025-03639-7

David F Albertini

引用次数: 0

DiGeorge Syndrome in newborns conceived from assisted reproductive techniques: is preimplantation screening necessary? A discussion of two cases. 辅助生殖技术孕育的新生儿迪乔治综合征：植入前筛查有必要吗？两个案例的讨论。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-07-23 DOI: 10.1007/s10815-025-03587-2

Andrés Rubio Duarte, Laura Cristina Aristizábal Pérez, Carlos Eduardo Riaño Medina, Norma Cecilia Serrano Diaz

{"title":"DiGeorge Syndrome in newborns conceived from assisted reproductive techniques: is preimplantation screening necessary? A discussion of two cases.","authors":"Andrés Rubio Duarte, Laura Cristina Aristizábal Pérez, Carlos Eduardo Riaño Medina, Norma Cecilia Serrano Diaz","doi":"10.1007/s10815-025-03587-2","DOIUrl":"10.1007/s10815-025-03587-2","url":null,"abstract":"Background: Assisted reproductive techniques are increasingly common, necessitating optimized genetic testing for embryos to reduce congenital disease risks. DiGeorge syndrome (DGS) is a severe genetic condition linked to complex congenital heart diseases and immunological issues. Reports of DGS in newborns conceived via intracytoplasmic sperm injection (ICSI) are scarce, with only two documented cases, one leading to pregnancy termination after diagnosis in the embryo.Case presentation: Case 1 is a full-term female newborn from an ICSI conception, born without a prenatal diagnosis. She exhibited hypotonia, hypocalcemia, seizures, and features of DGS, alongside congenital heart disease due to interrupted aortic arch. Surgical repair was successful, and she required calcium and anticonvulsant therapy upon discharge. Case 2 is a preterm male newborn, also conceived via ICSI in a surrogate, presenting with cyanosis, hypotonia, and other abnormalities. He was diagnosed with Tetralogy of Fallot and hypocalcemia, undergoing surgical correction at 6 months. Both cases had follow-ups at one year, showing no complications and confirmed DGS diagnoses.Conclusions: DGS poses significant risks for newborns, including heart defects. Given its limited association with assisted reproductive techniques, preimplantation genetic screening should be considered, particularly for families with a history of DGS and concerning findings in embryos.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2559-2563"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12422993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Triplet pregnancies after single blastocyst embryo transfer-how often and why do these occur? 单囊胚移植后三胞胎妊娠——发生的频率和原因？

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-07-28 DOI: 10.1007/s10815-025-03593-4

Ariel Woods, Steven R Lindheim, Saira Kothari, Dean E Morbeck, Emily N Liu, Amy Zhu, Nigel Pereira

{"title":"Triplet pregnancies after single blastocyst embryo transfer-how often and why do these occur?","authors":"Ariel Woods, Steven R Lindheim, Saira Kothari, Dean E Morbeck, Emily N Liu, Amy Zhu, Nigel Pereira","doi":"10.1007/s10815-025-03593-4","DOIUrl":"10.1007/s10815-025-03593-4","url":null,"abstract":"Single embryo transfer (sET) has been adopted by assisted reproductive technology (ART) clinics globally to increase the rate of singleton births and reduce multi-fetal pregnancies. Independent ART registry-based studies have reported an association between monozygotic (MZ) splitting and sET, especially after single blastocyst embryo transfer (sBET). While MZ twins after sBET are not uncommon, MZ triplet pregnancies after sBET are exceptionally rare. In this context, we report two cases of MZ triplet pregnancies after sBET. The first case is of a 29-year-old woman with a unicornuate uterus who conceived a tri-chorionic triplet pregnancy after single euploid blastocyst transfer in a medicated frozen embryo transfer (FET) cycle. The second case is of a 34-year-old woman with a triplet pregnancy consisting of monochorionic diamniotic twins and a singleton after the transfer of an untested blastocyst in a natural FET cycle. Using these cases, we focus on the epidemiology and putative mechanisms of MZ splitting. Given that sBET does not eliminate the risk of multiple pregnancy entirely, it is important to counsel couples about the risks of MZ twins and triplets with sBET.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2621-2627"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Euploidy rate and reproductive outcomes in embryos biopsied at days 5, 6, 7 and 8 of development: a multicenter study. 发育第5,6,7和8天活检的胚胎的整倍体率和生殖结果：一项多中心研究。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-08-09 DOI: 10.1007/s10815-025-03582-7

Rosa Alhelí Abarca-Rodríguez, Anna Calull-Bagó, Claudia González-Ortega, Ariana Arlen Ramírez-Macías, Andrea Luna-Gutiérrez, Antonio Martín Gutiérrez-Gutiérrez

{"title":"Euploidy rate and reproductive outcomes in embryos biopsied at days 5, 6, 7 and 8 of development: a multicenter study.","authors":"Rosa Alhelí Abarca-Rodríguez, Anna Calull-Bagó, Claudia González-Ortega, Ariana Arlen Ramírez-Macías, Andrea Luna-Gutiérrez, Antonio Martín Gutiérrez-Gutiérrez","doi":"10.1007/s10815-025-03582-7","DOIUrl":"10.1007/s10815-025-03582-7","url":null,"abstract":"Purpose: To evaluate the euploidy rate and obtain the biochemical pregnancy, implantation, clinical pregnancy, miscarriage and live birth rates for embryos biopsied on days 5, 6, 7 and 8 of development.Methods: Observational, retrospective and multicenter study. In total, 1845 IVF‒ICSI cycles with preimplantation genetic testing for aneuploidy (PGT-A) were included. The euploidy rate was determined according to the biopsy day (5, 6, 7 or 8), as were the reproductive outcomes of 710 single embryo transfers (SETs).Results: Seven thousand three hundred thirty-eight biopsied embryos were analyzed by means of PGT-A. Of these, 414 procedures resulted in amplification failure (5.6%), leaving 6924 embryos. In total, 5042 (72.8%) were biopsied on day 5, 1779 (25.7%) on day 6, 101 (1.5%) on day 7, and 2 (0.03%) on day 8. The euploidy rates on days 5, 6, 7 and 8 were 41.6%, 32.7%, 27.7%, and 50%, respectively. The euploid embryo biopsied on day 8 was not transferred. For blastocysts biopsied on days 5, 6 or 7, the biochemical pregnancy rates were 62.3%, 53.2% and 33.3%; the implantation rates were 59.8%, 50.3% and 22.2%; the clinical pregnancy rates were 59.7%, 42.2% and 22.2%; the live birth rates were 52.5%, 43.2% and 22.2%; and the miscarriage rates were 12.2%, 14.0% and 0%, respectively.Conclusions: The euploidy rate decreased with increasing time required to reach the blastocyst stage. Compared with day 6 and day 7 euploid embryos, day 5 euploid embryos had better clinical outcomes. However, the findings in this study demonstrate that embryos with slow development can result in live births.Clinical trial registration: Due to being a retrospective study, the clinical trial was not registered.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2675-2683"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Beyond the scale: navigating BMI, IVF candidacy, and retrieval settings through provider perspectives. 超越尺度：导航BMI，试管婴儿候选资格，并通过提供者的观点检索设置。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 DOI: 10.1007/s10815-025-03604-4

Amanda Tjitro, Lisa Pappas, Erica Boiman Johnstone, Megan Link, Lauren Verrilli, Meredith Humphreys, Ijeoma Iko, Joseph Letourneau

{"title":"Beyond the scale: navigating BMI, IVF candidacy, and retrieval settings through provider perspectives.","authors":"Amanda Tjitro, Lisa Pappas, Erica Boiman Johnstone, Megan Link, Lauren Verrilli, Meredith Humphreys, Ijeoma Iko, Joseph Letourneau","doi":"10.1007/s10815-025-03604-4","DOIUrl":"https://doi.org/10.1007/s10815-025-03604-4","url":null,"abstract":"Purpose: To identify provider-level differences in the role of body mass index (BMI) in in vitro fertilization (IVF).Methods: A cross-sectional survey was distributed electronically to Society of Reproductive Endocrinology and Infertility members (n = 827). Analysis implemented descriptive statistics and Fisher's exact tests.Results: One hundred eighty-seven responses were received from practices across the USA (22% response rate). Eighty-four percent of responders turned away at least one patient, in the past year, due to either BMI (82%) or a medical comorbidity other than obesity (68%). Eighty-six percent of respondents implement a cutoff. Implementation of cutoffs did not differ significantly by practice setting or geographic region. The most common reported BMI cutoff was ≥ 40. 95% cited anesthesia requirements as the primary reason for cutoffs. Only 11% of respondents perform hospital retrievals, where all 20 providers were academically affiliated. Those not performing retrievals cited lack of access to a mobile embryology lab (60%), patient cost (39%), and scheduling difficulties (55%) as common barriers.Conclusions: Most surveyed REIs said they had excluded a patient due to BMI or a medical comorbidity in the past year, likely due to surgical and anesthetic concerns. Very few providers have access to hospital retrievals, but even outpatient retrievals for women with BMI ≥ 40 are considered safe. We agree with avoidance of a universal BMI cutoff; rather, we advocate for streamlined referral systems for otherwise excluded women, and further work in weight loss management interventions and cost effectiveness of IVF.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760221","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

Changes in sequencing technology used for preimplantation genetic testing for aneuploidy. 用于非整倍体植入前基因检测的测序技术的变化。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-08-01 Epub Date: 2025-07-11 DOI: 10.1007/s10815-025-03576-5

Vivianne Elizabeth Oltramare, Catherine McDermott, Paul Joseph Dunn

{"title":"Changes in sequencing technology used for preimplantation genetic testing for aneuploidy.","authors":"Vivianne Elizabeth Oltramare, Catherine McDermott, Paul Joseph Dunn","doi":"10.1007/s10815-025-03576-5","DOIUrl":"10.1007/s10815-025-03576-5","url":null,"abstract":"The continued development of assisted reproductive technologies has aimed to improve pregnancy outcomes through screening methods for the identification of embryos with monogenic disorders, chromosomal aneuploidy or structural abnormalities. There is an increased risk of chromosomal abnormalities for patients with advanced maternal age, recurrent implantation failure and recurrent pregnancy loss. To address this, preimplantation genetic testing for aneuploidy has evolved through several methods since the 1990s, when it first began through fluorescence in situ hybridisation. The limitations of these early methods were overcome with the progression in technology that enabled the screening of all 23 chromosome pairs. These methods included microarray methods and next-generation sequencing platforms. Currently, these are used for PGT-A; however, for IVF clinics to carry out PGT-A utilising these methods, samples are sent to external laboratories capable of carrying out these methods. More recently, nanopore sequencing has emerged, which may overcome these limitations and be carried out within IVF clinics to facilitate faster patient results. This review focuses on the evolution of PGT-A methods through next-generation sequencing and the current status of these methods.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"2483-2496"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0