American journal of obstetrics and gynecology最新文献

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Safety, effectiveness, and acceptability of antenatal penicillin allergy evaluation: a systematic review. 产前青霉素过敏评价的安全性、有效性和可接受性:一项系统综述。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-29 DOI: 10.1016/j.ajog.2025.08.033
Lindsay Reddeman, Justin W J Lim, Kellie E Murphy, David Fahmy, Chris Walsh, Kristin Harris
{"title":"Safety, effectiveness, and acceptability of antenatal penicillin allergy evaluation: a systematic review.","authors":"Lindsay Reddeman, Justin W J Lim, Kellie E Murphy, David Fahmy, Chris Walsh, Kristin Harris","doi":"10.1016/j.ajog.2025.08.033","DOIUrl":"10.1016/j.ajog.2025.08.033","url":null,"abstract":"<p><p>Approximately 8% to 13% of pregnant patients report a penicillin allergy. Penicillins and other beta-lactams are widely used in pregnancy but are often avoided in these patients, resulting in suboptimal therapy, antimicrobial resistance, higher costs, and increased morbidity for patients and neonates. True penicillin allergy is rare, and 95% of unverified penicillin allergies are delabeled upon evaluation. Although penicillin allergy evaluation is safe and recommended for pregnant patients, few patients are assessed. Research concerning antenatal penicillin allergy evaluation is accelerating, and we undertook a systematic review to summarize this growing body of evidence for obstetrical providers. A comprehensive search of Medline, Embase, CINAHL, the Cochrane Central Register of Controlled Trials, PubMed (ahead-of-print and non-Medline records), and ClinicalTrials.gov was conducted in collaboration with a medical information specialist. There were no restrictions on study language, date, or design. All peer-reviewed studies of pregnant people reporting an unverified penicillin allergy and undergoing penicillin allergy evaluation with ≥5 participants were included. Case reports, non-peer-reviewed sources, and studies regarding desensitization of verified penicillin-allergic patients were excluded. Title/abstract review, full-text review, and data extraction were completed independently by 2 authors. Conflicts were resolved by a third author. Studies were evaluated using validated quality assessment tools. Nineteen studies (N=2085) were eligible for inclusion. In total, 1956 (93.81%) participants were delabeled through various approaches: direct oral challenge (18.61%), penicillin skin test and oral challenge (51.12%), penicillin skin test and intravenous challenge (2.97%), penicillin skin test alone (18.00%), history review (1.94%), and unspecified methods (7.41%). Acceptance of penicillin allergy evaluation was 60.88%. Overall, 17 mild and 8 mild delayed allergy-related adverse reactions occurred, requiring minimal intervention. There were 3 severe allergy-related adverse reactions: 2 participants experienced anaphylaxis (managed with intramuscular epinephrine and observation), and 1 patient had mild drug-induced hepatitis (resolved with observation). No hospital transfers were required. No adverse antenatal events were recorded. Penicillin allergy evaluation in pregnancy is safe, effective, and acceptable to patients. The case is strong for expanding access to optimize antimicrobial therapy, reduce antibiotic resistance, and improve outcomes for pregnant people and neonates.</p>","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144939061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence. 环状rna在老化的人类胎盘组织和死胎中积累,导致DNA损伤和细胞衰老。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-29 DOI: 10.1016/j.ajog.2025.08.030
Anya L Arthurs, Matilda R Jackson, Dylan McCullough, Hamish S Scott, Christopher P Barnett, Stuart T Webb, Melanie D Smith, Tanja Jankovic-Karasoulos, Gustaaf A Dekker, Claire T Roberts
{"title":"Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.","authors":"Anya L Arthurs, Matilda R Jackson, Dylan McCullough, Hamish S Scott, Christopher P Barnett, Stuart T Webb, Melanie D Smith, Tanja Jankovic-Karasoulos, Gustaaf A Dekker, Claire T Roberts","doi":"10.1016/j.ajog.2025.08.030","DOIUrl":"10.1016/j.ajog.2025.08.030","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Unexplained stillbirth may occur owing to premature placental aging, with an unexpected deterioration of placental function for the gestational age. Circular RNAs are enzyme-resistant RNA molecules that accumulate in aging tissues. Furthermore, circular RNAs bind to genomic DNA directly, forming complexes that can induce DNA breaks and genomic instability.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;This study investigated tissue aging and circular RNA accumulation with gestational age in healthy and stillbirth placentae and determined whether circular RNAs directly interact with placental DNA, causing DNA damage and cellular senescence.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;Placenta samples (n=60 term uncomplicated; n=4 unexplained stillbirth, at 23, 26, 31, and 34 weeks' gestation) were assessed. The abundance of 7 candidate circular RNAs and their linear transcripts was quantified. The physical interaction of candidate circular RNAs with DNA was confirmed. Telomere length, relative abundance of senescence-associated genes, and DNA damage were assessed. Patient-derived trophoblast stem cell differentiation into syncytiotrophoblasts or extravillous trophoblasts was confirmed before circ_0000284 knockdown. The abundance of circular RNAs in maternal blood sampled between 15 and 16 weeks' gestation (n=12 control, n=6 women who went on to have a stillbirth) was determined using quantitative polymerase chain reaction. Appropriate statistical analyses were undertaken (SPSS).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Placental DNA damage, senescence, and expression of 7 candidate circular RNAs, but not their linear transcripts, were increased in 40 and 41+ weeks' gestation samples and in stillbirth compared with earlier gestations (37-39 weeks). DNA:RNA immunoprecipitation-quantitative polymerase chain reaction signal size confirmed that all candidate circular RNA loci bind to placental DNA. The abundance of circular RNA was significantly decreased with the addition of RNase H1 compared with all healthy gestation samples, indicating that stillbirth placentae may lack RNase H1. Telomere length is shorter in placentae from stillbirths than in healthy 37 weeks' gestation placentae. Depletion of circ_0000284 by specific small interfering RNA in primary cells significantly reduced DNA damage and increased expression of senescence-associated genes compared with the control. The abundance of candidate circular RNAs is increased in maternal blood at 16 weeks' gestation for women who went on to have a stillbirth compared with women who had live births.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Stillbirth placentae show accelerated aging with shortened telomeres, premature DNA breaks, increased cellular senescence, and accumulation of candidate circular RNAs at levels consistent with older gestation tissue. These circular RNAs bind to DNA in the placenta, and circ_0000284 knockdown reduces DNA breaks and senescence in primary placental cells. Therefore, circ","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Trends in maternal mortality rates by state, United States, 2018 to 2023. 2018-2023年美国各州孕产妇死亡率趋势。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-28 DOI: 10.1016/j.ajog.2025.08.028
Lauren M Rossen, Donna L Hoyert, Isabelle Horon, Amy M Branum
{"title":"Trends in maternal mortality rates by state, United States, 2018 to 2023.","authors":"Lauren M Rossen, Donna L Hoyert, Isabelle Horon, Amy M Branum","doi":"10.1016/j.ajog.2025.08.028","DOIUrl":"10.1016/j.ajog.2025.08.028","url":null,"abstract":"<p><strong>Background: </strong>The United States maternal mortality rate increased after 2018, with a marked increase in 2021 followed by a decline in 2022 and 2023. Trends at the state level have not yet been examined, likely due to the small numbers of maternal deaths occurring annually in most states. Small area estimation models can provide more reliable estimates of maternal mortality at the state level, by borrowing strength over time and across geographic areas.</p><p><strong>Objective: </strong>To examine state-level trends in maternal mortality rates from 2018 through 2023 and the contribution of COVID-19-related maternal deaths to the trends.</p><p><strong>Study design: </strong>Serial cross-sectional study of state-level mortality and natality data from the United States National Vital Statistics System from 2018 through 2023. Maternal deaths, defined as deaths occurring during or within 42 days of termination of pregnancy (n=4964), and live births (n=22,080,966). Hierarchical Bayesian models with spatiotemporal random effects were used to estimate smoothed maternal mortality rates (maternal deaths per 100,000 live births) and the percentage of maternal deaths involving COVID-19 by state of residence from 2018 to 2023.</p><p><strong>Results: </strong>Maternal mortality rates showed consistent temporal patterns across states, peaking in 2021 and declining in 2022 to 2023. However, there was variation in magnitude, with rates 4.6 times larger in Tennessee than in California in 2021. COVID-19 accounted for the observed increases across nearly all states; maternal mortality rates excluding COVID-19 deaths were stable across most states.</p><p><strong>Conclusion: </strong>Findings show the impact of the COVID-19 pandemic on trends in maternal mortality rates by state, with maternal deaths involving COVID-19 nearly entirely accounting for the increases seen in maternal mortality in 2020 and 2021. Findings can inform efforts to prevent maternal deaths where rates are highest and highlight areas where maternal mortality rates are low or declining for further examination of factors that may be related to these lower rates.</p>","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144939021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Norethisterone for prolonged uterine bleeding associated with etonogestrel implant (IMPLANET): a randomized controlled trial. 去甲睾酮治疗依诺孕酮植入术后子宫出血延长的随机对照试验
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-28 DOI: 10.1016/j.ajog.2025.08.029
Maíra Cristina Ribeiro Andrade, Erciliene M M Yamaguti, Mariane N de Nadai, Cassia R T Juliato, Cristina A F Guazzelli, Milena B Brito, Ana Cláudia Marcelino, Charles S Borges, Conrado S Ragazini, Francisco Barbosa-Júnior, Giordana C Braga, Sérgio H P Okano, Omero B Poli-Neto, Carolina Sales Vieira
{"title":"Norethisterone for prolonged uterine bleeding associated with etonogestrel implant (IMPLANET): a randomized controlled trial.","authors":"Maíra Cristina Ribeiro Andrade, Erciliene M M Yamaguti, Mariane N de Nadai, Cassia R T Juliato, Cristina A F Guazzelli, Milena B Brito, Ana Cláudia Marcelino, Charles S Borges, Conrado S Ragazini, Francisco Barbosa-Júnior, Giordana C Braga, Sérgio H P Okano, Omero B Poli-Neto, Carolina Sales Vieira","doi":"10.1016/j.ajog.2025.08.029","DOIUrl":"10.1016/j.ajog.2025.08.029","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Additional progestogens are often used in some countries to stop prolonged bleeding in etonogestrel implant users, although no evidence currently supports this practice.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To evaluate the efficacy and safety of oral norethisterone acetate, also known as norethindrone acetate, at a dose of 10 mg/day for prolonged bleeding associated with etonogestrel implant use.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;IMPLANET is a randomized, controlled, blinded, multicenter trial conducted in Brazil. It included etonogestrel implant users aged 18 to 40 years who had been using the implant for at least 40 days and had experienced uterine bleeding for a minimum of 7 consecutive days at enrollment. Participants had no prior diagnosis of abnormal uterine bleeding and underwent a standardized evaluation to exclude a secondary cause for the current prolonged bleeding episode. Participants were block-randomized to receive 10 mg of oral norethisterone acetate or placebo daily until they experienced no bleeding for 2 consecutive days or completed 30 consecutive days of treatment, whichever occurred first. Participants could repeat treatment up to 3 times over 210 days. Participants reported bleeding via daily messages. The primary outcome was the proportion of participants who achieved bleeding cessation after using up to 7 consecutive pills. Secondary outcomes included the proportion of participants who achieved bleeding cessation after using up to 14 pills, treatment days required to stop the first bleeding episode, time to bleeding recurrence after the first treatment, bleeding-free days within the first 30 days, treatment failure (continued bleeding after 30 days of pill use), bleeding days and bleeding-free days after the first 30 days, and safety outcomes. Exploratory outcomes included study participation time and premature discontinuation. A sample size of 86 participants provided 80% power to detect a 30% in bleeding cessation rates after using a maximum of 7 pills. The modified intention-to-treat analysis included participants who received at least one dose of the randomized treatment and had a negative chlamydia/gonorrhea screen postrandomization. We used Chi-square and Wilcoxon tests for comparisons. The primary outcome was additionally analyzed using a multiple log-binomial regression to adjust for baseline imbalances (age, employment status, and marital status), with adjusted risk difference and 95% confidence intervals.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Between September 2020 and May 2023, 114 participants were enrolled, 99 were randomized, and 90 (45 per group) were included in the modified intention-to-treat. Baseline characteristics were similar except for age, employment, and marital status. The norethisterone acetate group had a significantly higher percentage of participants who achieved bleeding cessation after using up to 7 pills than the placebo group (86.7% vs 48.9%, P&lt;.001), even after a","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Farnesylation-dependent kinetochore targeting of centromere protein F is essential for oocyte meiotic progression and female fertility. 对卵母细胞减数分裂进程和女性生育能力至关重要的是法酰化依赖的着丝粒靶向CENP-F。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-28 DOI: 10.1016/j.ajog.2025.08.031
Ou Zhong, Congjing Wang, Junqiang Zhang, Xiaolan Zhang, Ximan Rui, Qiqi Cao, Xinru Jia, Pinhua Wang, Jie Ding, Xiufeng Ling, Hong Li, Qingxia Meng, Chun Zhao, Ran Huo
{"title":"Farnesylation-dependent kinetochore targeting of centromere protein F is essential for oocyte meiotic progression and female fertility.","authors":"Ou Zhong, Congjing Wang, Junqiang Zhang, Xiaolan Zhang, Ximan Rui, Qiqi Cao, Xinru Jia, Pinhua Wang, Jie Ding, Xiufeng Ling, Hong Li, Qingxia Meng, Chun Zhao, Ran Huo","doi":"10.1016/j.ajog.2025.08.031","DOIUrl":"10.1016/j.ajog.2025.08.031","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;During mammalian oocyte meiosis, accurate chromosome segregation critically depends on precise regulation of kinetochore-microtubule attachments, a process monitored by the spindle assembly checkpoint. While centromere protein F has been well characterized as a kinetochore-associated protein that stabilizes kinetochore-microtubule connections during mitosis, its functional mechanisms during meiosis remain poorly understood. In particular, there is still controversy over whether farnesylation modification governs localization and functionality of centromere protein F. Concurrently, clinical investigations face a knowledge gap regarding the genetic basis of oocyte maturation arrest, a prevalent phenotype observed in female infertility patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;This study aims to reveal the regulatory mechanism of centromere protein F farnesylation modification on its meiotic function and explore the association between centromere protein F gene mutations and female oocyte maturation disorders.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;Previous studies have shown that centromere protein F is essential for chromosome segregation during mitosis, but its functional mechanism during meiosis remains poorly understood. Oocyte microinjection, western blotting, co-immunoprecipitation, and immunofluorescence were used to explore the localization and function of centromere protein F in oocytes. The role of centromere protein F farnesylation in mouse oocytes was investigated using pharmacological (farnesyltransferase inhibitor treatment) and genetic (C3111S point mutation) methods. Subsequently, 4 patients with centromere protein F mutations were identified in the whole-exome sequencing dataset consisting of 179 infertile patients with oocyte maturation disorders. Mouse oocyte and 293T cell models were used to verify the mechanism of patient-derived centromere protein F mutations causing oocyte maturation disorders.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Microinjection of centromere protein F siRNA into mouse oocytes significantly reduced maturation rates (77.84±2.087% vs 34.26±4.748%, P &lt;.01), with the majority arrested at metaphase I (17.69±2.207% vs 44.93±5.539%, P &lt;.05). Time-course immunofluorescence analysis revealed dynamic centromere protein F localization: initially dispersed across chromosome following nuclear envelope breakdown and then progressively accumulating at kinetochores by metaphase I. Co-immunoprecipitation assays confirmed a direct interaction between centromere protein F and Aurora kinase B. Knockdown of Aurora kinase B would damage the kinetochore localization of centromere protein F in oocytes. Farnesylation inhibition (via farnesyltransferase inhibitor or C3111S mutation) significantly decreased oocyte maturation rates (75.58±3.703% vs 46.18±1.282%, P &lt;.01; 75.58±3.703% vs 44.04±2.541%, P &lt;.01), concomitantly weakening interaction between centromere protein F and Aurora kinase B (P &lt;.01) and disru","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Recommended standardized terminology related to the clitoris and vestibular bulbs: the corona of the glans clitoris. 推荐的与阴蒂和前庭球有关的标准化术语:阴蒂头的冠(致编辑的信)。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-27 DOI: 10.1016/j.ajog.2025.08.026
Matthew J Zdilla
{"title":"Recommended standardized terminology related to the clitoris and vestibular bulbs: the corona of the glans clitoris.","authors":"Matthew J Zdilla","doi":"10.1016/j.ajog.2025.08.026","DOIUrl":"10.1016/j.ajog.2025.08.026","url":null,"abstract":"","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Recommended versus not yet resolved: the case for caution in nomenclature. 推荐与尚未解决:在命名法中谨慎的案例(回复给编辑的信)。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-26 DOI: 10.1016/j.ajog.2025.08.027
Julia K Shinnick, Marlene M Corton, John O DeLancey
{"title":"Recommended versus not yet resolved: the case for caution in nomenclature.","authors":"Julia K Shinnick, Marlene M Corton, John O DeLancey","doi":"10.1016/j.ajog.2025.08.027","DOIUrl":"10.1016/j.ajog.2025.08.027","url":null,"abstract":"","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study. 全基因组测序用于胎儿结构异常的产前评估:一项前瞻性多中心研究。
IF 8.4 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-25 DOI: 10.1016/j.ajog.2025.08.025
Zhi Gao, Meimei Liu, Jinna Jiang, Xiaofeng Yang, Yimei Li, Ying Zhang, Yanfei Wang, Chunxiao Hua, Ning Liu, Xiaofan Zhu, Xiangdong Kong
{"title":"Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.","authors":"Zhi Gao, Meimei Liu, Jinna Jiang, Xiaofeng Yang, Yimei Li, Ying Zhang, Yanfei Wang, Chunxiao Hua, Ning Liu, Xiaofan Zhu, Xiangdong Kong","doi":"10.1016/j.ajog.2025.08.025","DOIUrl":"10.1016/j.ajog.2025.08.025","url":null,"abstract":"<p><strong>Background: </strong>The clinical validity of whole-genome sequencing in postnatal settings is well documented, but studies of its use in prenatal settings are limited.</p><p><strong>Objective: </strong>The objective of this study was to prospectively evaluate the performance of whole-genome sequencing for prenatal diagnosis of fetal structural anomalies compared with the commonly used testing strategy of copy-number variant sequencing plus exome sequencing.</p><p><strong>Study design: </strong>Whole-genome sequencing was performed in parallel with copy-number variant sequencing and exome sequencing for 96 parent-fetus trios with fetal structural anomalies. Single-nucleotide variants, small insertions/deletions, copy-number variations, structural variants, and absence of heterozygosity were classified according to the American College of Medical Genetics and Genomics, Association for Molecular Pathology, and ClinGen guidelines.</p><p><strong>Results: </strong>Diagnostic variants were found by copy-number variant sequencing for 5/96 (5.2%) fetuses and by trio-exome sequencing for 26/96 (27.1%) fetuses. The combined diagnostic rate for copy-number variant sequencing plus trio-exome sequencing was 30/96 (31.2%). Whole-genome sequencing identified all diagnostic variants detected by copy-number variant sequencing and trio-exome sequencing plus 3 additional fetuses (one with maternal uniparental disomy 15, one with a complex chromosomal rearrangement, and one with compound heterozygous single-nucleotide variants in NADSYN1), increasing the diagnostic rate to 33/96 (34.4%). The highest diagnostic rate was observed in fetuses with craniofacial abnormalities (2/3, 66.7%), followed by those with hydrops (3/6, 50.0%). Ten families (10.5%, 10/96) were detected with incidental findings, of which, structural variants in 7 fetuses were detected only by whole-genome sequencing, including 6 inversions and one uniparental disomy 16.</p><p><strong>Conclusion: </strong>Trio-based whole-genome sequencing offers a valid alternative to copy-number variant sequencing plus exome sequencing, demonstrating the capacity for more comprehensive genomic analysis for fetuses with structural anomalies while permitting consolidation of laboratory workflows into a single test.</p>","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":" ","pages":""},"PeriodicalIF":8.4,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144939011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Twin pregnancy and preeclampsia: aspirin dosage (Reply to Letter-to-the-editor) 双胎妊娠和先兆子痫:阿司匹林剂量(回复致编辑信)
IF 9.8 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-23 DOI: 10.1016/j.ajog.2025.08.024
Eleonora Torcia MD, Silvia Visentin MD PhD, Dominique A. Badr MD, authors
{"title":"Twin pregnancy and preeclampsia: aspirin dosage (Reply to Letter-to-the-editor)","authors":"Eleonora Torcia MD, Silvia Visentin MD PhD, Dominique A. Badr MD, authors","doi":"10.1016/j.ajog.2025.08.024","DOIUrl":"https://doi.org/10.1016/j.ajog.2025.08.024","url":null,"abstract":"","PeriodicalId":7574,"journal":{"name":"American journal of obstetrics and gynecology","volume":"30 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144923964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Methodological Considerations and Prospective Pathways in Researching Diabetes and Hypertension in Pregnancy (Reply to Letter-to-the-Editor 妊娠期糖尿病和高血压研究的方法学考虑和前瞻性途径(回复编辑信)
IF 9.8 1区 医学
American journal of obstetrics and gynecology Pub Date : 2025-08-23 DOI: 10.1016/j.ajog.2025.08.022
Lorie M. Harper MD MSCI, Jeff M. Szychowski PhD, Alan T.N. Tita MD
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