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Incidence and predictors of high vitamin D in premature infants with very low birth weight. 极低出生体重早产儿高维生素D的发生率和预测因素。
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-22 DOI: 10.1515/jpm-2025-0099
Logan B Greenblatt, Dimitre G Stefanov, Amanda Rahman, Jonathan Blau, Shachee P Pandya

Objectives: To examine the incidence of hypervitaminosis D in very low birth weight (VLBW) infants and any associated maternal or neonatal factors.

Methods: In this single center retrospective study, we studied serum vitamin D (25[OH]D) levels, maternal and neonatal demographic and clinical factors. We included VLBW infants (≤32 weeks gestational age (GA) and ≤1500 g birthweight, n = 130) born between 2021 and 2023. VLBWs receive 400 IU/day cholecalciferol once TPN is discontinued. Hypervitaminosis D was defined as 25[OH]D levels >60 ng/ml. We considered 11 variables with plausibility to influence this outcome. Variables with p < 0.20 in univariate logistic regression were entered into a multivariable logistic model to assess associations with the primary outcome. A linear mixed model assessed the association between calcium and 25[OH]D levels, with time as a fixed effect and subject as a random effect.

Results: 63 VLBWs (48 %) developed hypervitaminosis D. Maternal age > 35 years (OR = 2.2, 95 % CI 0.96-5.06) associated with excess 25[OH]D approached statistical significance (p = 0.06). Our findings indicate that in GA ≥ 28 weeks (OR = 0.77, 95 % CI 0.64-0.92) and maternal hypertension (OR = 0.32, 95 % CI 0.14-0.73) were associated with reduced likelihood of hypervitaminosis D.

Conclusions: 25[OH]D supplementation of 400 IU/day in VLBWs is associated with a high incidence of hypervitaminosis D. The above findings reveal a significant effect of maternal demographic and clinical factors on newborn metabolic health. Further work is needed to identify causes of hypervitaminosis D. Long term prospective studies are needed to understand the impact of hypervitaminosis D in VLBWs.

目的:探讨极低出生体重儿(VLBW)中维生素D过多症的发生率及任何相关的母体或新生儿因素。方法:在单中心回顾性研究中,我们研究了血清维生素D (25[OH]D)水平、孕产妇和新生儿人口统计学和临床因素。我们纳入了2021年至2023年间出生的VLBW婴儿(≤32 周胎龄(GA)和≤1500 g出生体重,n = 130)。一旦停用TPN, VLBWs接受400 IU/天的胆钙化醇治疗。维生素过多症D定义为25[OH]D水平>60 ng/ml。我们考虑了11个可能影响这一结果的变量。结果:63名VLBWs(48 %)发生了维生素D过多症。母亲年龄> ~ 35 岁(OR = 2.2, 95 % CI 0.96-5.06)与过量25[OH]D的相关性接近统计学意义(p = 0.06)。我们的研究结果表明,在GA≥28 周(OR = 0.77, 95 % CI 0.64-0.92)和产妇高血压(OR = 0.32, 95 % CI 0.14-0.73)与维生素过多症D的可能性降低相关。结论:VLBWs补充400 IU/天的25[OH]D与维生素过多症D的高发相关。上述发现揭示了产妇人口统计学和临床因素对新生儿代谢健康的显著影响。需要进一步的工作来确定维生素D过多症的原因。需要长期的前瞻性研究来了解维生素D过多症对VLBWs的影响。
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引用次数: 0
Perceptions of respectful maternity care in Ukraine during a time of war. 战争时期乌克兰对尊重产妇护理的看法。
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-15 DOI: 10.1515/jpm-2025-0341
Volodymyr Artyomenko, Katherine Fachon, Marcella Cardoso, Dmytro Zhelezov, Annekathryn Goodman, Mary Greenwald, Zinaida Velieva, Christina Duzyj

Objectives: An increasing body of evidence has revealed disrespectful and abusive care in facility-based childbirth as a barrier to maternal and child health. Providers have noted subpar work environments, inadequate staffing, and negative attitudes toward marginalized groups as barriers to respectful care. What has not been studied is the impact of disaster and violence on the delivery of respectful maternity care. The purpose of this study was to evaluate the state of obstetrical care in a maternity hospital in Odessa, Ukraine during a time of military invasion.

Methods: We surveyed 202 maternity care providers who have worked at Odessa City Maternity Hospital № 5 for at least one year. Measurements and topics covered in the questionnaires included respectful care practices performed; types of disrespectful behaviors witnessed; the impact of war on the provision of respectful maternity care; post-traumatic stress; and attitudes about consent in obstetric care.

Results: 50 percent of respondents believed disrespect was an issue in the field of obstetrics. A slight majority (55.0 %) reported that the frequency of disrespect and abuse remained the same before and after the invasion, while 32.2 % reported a lower frequency and 9.4 % reported a higher frequency of disrespect. There was little change in reported performance of respectful maternity care before and after the full-scale invasion.

Conclusions: Reported effects of war on respectful maternity care were minimal. However, the relatively low knowledge of disrespect and the large spread of frequency of reported respectful behavior indicate an opportunity for training.

目标:越来越多的证据表明,在设施分娩时的不尊重和虐待护理是母婴健康的障碍。提供者注意到工作环境差、人员不足以及对边缘群体的消极态度是尊重护理的障碍。尚未研究的是灾难和暴力对提供尊重的产妇护理的影响。本研究的目的是评估在敖德萨,乌克兰的一家妇产医院在军事入侵期间的产科护理状况。方法:我们调查了在敖德萨市第五妇产医院工作至少一年的202名产科护理人员。问卷所涵盖的测量和主题包括尊重护理实践;目睹的不尊重行为类型;战争对提供尊重产妇护理的影响;创伤后应激;以及对产科护理中同意的态度。结果:50%的受访者认为不尊重是产科领域的一个问题。略占多数(55.0 %)的人报告说,不尊重和虐待的频率在入侵前后保持不变,而32.2% %的人报告频率较低,9.4% %的人报告频率较高。据报道,在全面入侵前后,尊重产妇护理的表现几乎没有变化。结论:据报道,战争对尊重产妇护理的影响微乎其微。然而,相对较低的不尊重知识和报道的尊重行为的广泛传播表明了培训的机会。
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引用次数: 0
Association between FAR, PAR, APRI and adverse neonatal outcomes in pregnancies complicated by intrahepatic cholestasis. 妊娠合并肝内胆汁淤积症的FAR、PAR、APRI与新生儿不良结局的关系
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-08 DOI: 10.1515/jpm-2025-0323
Neval Çayönü Kahraman, Betül Tokgöz Çakır, Furkan Akın, Muradiye Yıldırım, Ruken Dayanan, Dilara Duygulu Bulan, Şevki Çelen, Ali Turhan Çağlar

Objectives: This study aimed to evaluate the predictive value of inflammatory biomarkers fibrinogen/albumin ratio (FAR), platelet/albumin ratio (PAR), and AST/platelet ratio (APRI) in identifying poor neonatal outcomes among pregnancies complicated by IHCP.

Methods: This retrospective comparative study included 165 pregnant women diagnosed with IHCP and 155 healthy pregnant women matched for age and gestational age, who delivered at a tertiary care hospital between January 2023 and January 2025. Demographic, clinical, laboratory, and perinatal characteristics were reviewed. FAR, PAR, and APRI were calculated from standard laboratory data. A composite poor neonatal outcome was defined as the presence of at least one of the following: Apgar score <7 at 5 min, respiratory distress syndrome (RDS), meconium aspiration, neonatal sepsis, or admission to the neonatal intensive care unit (NICU). Diagnostic performance was assessed using receiver operating characteristic (ROC) curves and multivariate logistic regression.

Results: FAR and APRI values were significantly higher in the IHCP group compared to controls (p<0.05). Among neonates with adverse outcomes, only FAR levels were significantly elevated (p = 0.015). However, its discriminative ability was limited (AUC = 0.607; sensitivity: 58 %, specificity: 63 %) and it was not an independent predictor in multivariate analysis.

Conclusions: FAR and APRI levels are elevated in pregnancies with IHCP, yet FAR alone demonstrates limited predictive value for adverse neonatal outcomes. It may serve as a supportive, rather than standalone, marker. Further large-scale prospective studies are warranted.

目的:本研究旨在评估炎症生物标志物纤维蛋白原/白蛋白比(FAR)、血小板/白蛋白比(PAR)和AST/血小板比(APRI)对妊娠合并IHCP的不良新生儿结局的预测价值。方法:这项回顾性比较研究包括165名诊断为IHCP的孕妇和155名年龄和胎龄匹配的健康孕妇,这些孕妇于2023年1月至2025年1月在一家三级保健医院分娩。回顾了人口统计学、临床、实验室和围产期特征。根据标准实验室数据计算FAR、PAR和APRI。Apgar评分结果:与对照组相比,IHCP组的FAR和APRI值显著升高(结论:IHCP孕妇的FAR和APRI水平升高,但仅FAR对新生儿不良结局的预测价值有限)。它可以作为一个支持性的,而不是独立的标记。进一步的大规模前瞻性研究是必要的。
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引用次数: 0
The adjunctive role of the neutrophil-to-lymphocyte ratio in risk stratification for clinical chorioamnionitis in term pregnancies with meconium-stained amniotic fluid. 中性粒细胞与淋巴细胞比值在羊水粪染足月妊娠羊膜炎风险分层中的辅助作用
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-08 DOI: 10.1515/jpm-2025-0252
Marwan Odeh, Maya Frank Wolf, Hila Gertes, Lior Lowenstein, Inshirah Sgayer

Objectives: To assess the predictive value of the neutrophil-to-lymphocyte ratio (NLR) for clinical chorioamnionitis in term pregnancies complicated by meconium-stained amniotic fluid (MSAF).

Methods: This retrospective case-control study included women with singleton pregnancies at ≥37 weeks with documented MSAF during labor. The NLR was calculated from maternal blood samples collected at admission. Clinical and hematological parameters were compared between women with and without clinical chorioamnionitis. A multivariable logistic regression model was constructed to identify independent predictors, and a predictive risk score was developed.

Results: Among 2,014 women with MSAF, 106 (5.3 %) developed clinical chorioamnionitis. Among those with compared to without clinical chorioamnionitis, the mean NLR was higher (5.0 ± 3.8 vs. 4.3 ± 2.3, p = 0.008) and an NLR >3 was more common (85.8 % vs. 76.9 %, p = 0.042). C-reactive protein and white blood cell levels were comparable between the groups. In multivariable analysis, nulliparity (adjusted odds ratio (aOR) 3.087, 95 % confidence interval (CI):1.808-5.273), longer rupture of membranes (aOR 1.092, 95 % CI:1.092-1.189), and NLR (aOR 1.095, 95 % CI:1.025-1.171) were independently associated with clinical chorioamnionitis. A predictive model incorporating nulliparity, rupture of membranes >10 h, and NLR >3 demonstrated an area under the curve of 0.742 (95 % CI: 0.693-0.791, p < 0.001) for predicting clinical chorioamnionitis.

Conclusions: NLR at admission was independently associated with clinical chorioamnionitis in term pregnancies complicated by MSAF. Incorporating NLR into a predictive model enhanced risk stratification, suggesting that NLR could be a practical biomarker for early identification of increased risk of infection among women with MSAF.

目的:探讨中性粒细胞/淋巴细胞比值(NLR)对足月妊娠羊膜膜炎合并羊水粪染(MSAF)的预测价值。方法:本回顾性病例对照研究纳入≥37 周单胎妊娠且分娩期间有MSAF记录的妇女。NLR根据入院时采集的母体血液样本计算。比较有和无绒毛膜羊膜炎妇女的临床和血液学参数。构建多变量logistic回归模型识别独立预测因子,并建立预测风险评分。结果:2014例MSAF患者中,106例(5.3 %)出现临床绒毛膜羊膜炎。与无临床绒毛膜羊膜炎的患者相比,NLR的平均值更高(5.0±3.8比4.3±2.3,p = 0.008), NLR bb0.3更常见(85.8 %比76.9 %,p = 0.042)。两组之间的c反应蛋白和白细胞水平具有可比性。在多变量分析中,无胎次(调整优势比(aOR) 3.087, 95 %可信区间(CI):1.808-5.273)、胎膜破裂时间较长(aOR 1.092, 95 % CI:1.092-1.189)和NLR (aOR 1.095, 95 % CI:1.025-1.171)与临床羊膜羊膜炎独立相关。一个包含无产、膜破裂>0 h和NLR >3的预测模型显示,曲线下面积为0.742(95 % CI: 0.693-0.791, p)。结论:入院时NLR与足月妊娠合并MSAF的临床绒毛膜羊膜炎独立相关。将NLR纳入预测模型增强了风险分层,表明NLR可能是早期识别MSAF女性感染风险增加的实用生物标志物。
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引用次数: 0
The fetus as a patient in the 21st century: science, ethics, technology and global responsibility. 21世纪的胎儿作为病人:科学、伦理、技术和全球责任。
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-08 DOI: 10.1515/jpm-2025-0688
Ivica Zalud, Milan Stanojevic, Amos Grunebaum, Frank A Chervenak
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引用次数: 0
Fetal brain in fetal growth restriction: alterations in cortical morphometry and volume. 胎儿生长受限的胎儿大脑:皮质形态和体积的改变。
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-08 DOI: 10.1515/jpm-2025-0536
Hale Ankara Aktas, Hakan Golbasi, Burak Bayraktar, Ilayda Gercik Arzik, Zubeyde Emiralioglu Cakir, Atalay Ekin

Objectives: To evaluate fetal brain midline structures, cortical structures, and brain volume using sonography in cases of fetal growth restriction (FGR) and to compare these findings with those of fetuses demonstrating normal growth.

Methods: This prospective case-control study included 80 FGR cases and 80 fetuses with normal growth curves between 24 and 37 weeks of gestation. Multiplanar neurosonography was performed in all cases according to the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guidelines. The corpus callosum (CC; length, thickness, and fastigium distance), cavum septi pellucidi (CSP), sylvian fissure (SF), parieto-occipital fissure (POF), calcarine fissure (CF), insula, olfactory sulcus (OS), and brain volume were evaluated. Measurements were made using the ultrasound device's electronic calipers, and brain volume was calculated using the Virtual Organ Computer-aided Analysis (VOCAL) application.

Results: In the FGR group, CSP width, CC length, and thickness were significantly increased, while CCFL and POF depths were decreased (p < 0.05, for all). Mean brain volumes were similar in the FGR and control groups (349.30 ± 61.77 vs. 368.42 ± 68.51, p = 0.066). In FGR group, middle cerebral artery peak systolic velocity (MCA PSV) was positively correlated with most brain structures but negatively correlated with CC thickness. There was no relationship between cerebroplacental ratio (CPR) and brain volume or fetal brain structures.

Conclusions: Our findings showed that FGR affects the fetal brain through neuroanatomical structures such as the CC, CSP, CCFL, and POF during the prenatal period. In our cohort, fetal brain volume did not differ significantly in FGR. Furthermore, there was no association between CPR and fetal brain structures.

目的:利用超声技术评估胎儿生长受限(FGR)胎儿的脑中线结构、皮质结构和脑容量,并将这些结果与正常胎儿的结果进行比较。方法:本前瞻性病例对照研究包括80例FGR病例和80例妊娠24 ~ 37周生长曲线正常的胎儿。所有病例均按照国际妇产科超声学会(ISUOG)指南进行多平面神经超声检查。评估胼胝体(CC,长度,厚度和筋膜距离),透明中隔腔(CSP), sylvian裂隙(SF),顶枕裂隙(POF), calcarine裂隙(CF),脑岛,嗅沟(OS)和脑容量。使用超声设备的电子卡尺进行测量,使用虚拟器官计算机辅助分析(VOCAL)应用程序计算脑容量。结果:FGR组CSP宽度、CC长度和厚度显著增加,CCFL和POF深度明显减小(p)。结论:FGR在产前通过CC、CSP、CCFL和POF等神经解剖结构对胎儿大脑产生影响。在我们的队列中,胎儿脑容量在FGR中没有显著差异。此外,心肺复苏术与胎儿大脑结构之间没有关联。
{"title":"Fetal brain in fetal growth restriction: alterations in cortical morphometry and volume.","authors":"Hale Ankara Aktas, Hakan Golbasi, Burak Bayraktar, Ilayda Gercik Arzik, Zubeyde Emiralioglu Cakir, Atalay Ekin","doi":"10.1515/jpm-2025-0536","DOIUrl":"https://doi.org/10.1515/jpm-2025-0536","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate fetal brain midline structures, cortical structures, and brain volume using sonography in cases of fetal growth restriction (FGR) and to compare these findings with those of fetuses demonstrating normal growth.</p><p><strong>Methods: </strong>This prospective case-control study included 80 FGR cases and 80 fetuses with normal growth curves between 24 and 37 weeks of gestation. Multiplanar neurosonography was performed in all cases according to the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guidelines. The corpus callosum (CC; length, thickness, and fastigium distance), cavum septi pellucidi (CSP), sylvian fissure (SF), parieto-occipital fissure (POF), calcarine fissure (CF), insula, olfactory sulcus (OS), and brain volume were evaluated. Measurements were made using the ultrasound device's electronic calipers, and brain volume was calculated using the Virtual Organ Computer-aided Analysis (VOCAL) application.</p><p><strong>Results: </strong>In the FGR group, CSP width, CC length, and thickness were significantly increased, while CCFL and POF depths were decreased (p < 0.05, for all). Mean brain volumes were similar in the FGR and control groups (349.30 ± 61.77 vs. 368.42 ± 68.51, p = 0.066). In FGR group, middle cerebral artery peak systolic velocity (MCA PSV) was positively correlated with most brain structures but negatively correlated with CC thickness. There was no relationship between cerebroplacental ratio (CPR) and brain volume or fetal brain structures.</p><p><strong>Conclusions: </strong>Our findings showed that FGR affects the fetal brain through neuroanatomical structures such as the CC, CSP, CCFL, and POF during the prenatal period. In our cohort, fetal brain volume did not differ significantly in FGR. Furthermore, there was no association between CPR and fetal brain structures.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Habek's modification of Stark's techniques of cesarean section. 哈贝克对斯塔克剖宫产术的改进。
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-03 DOI: 10.1515/jpm-2025-0651
Dubravko Habek
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引用次数: 0
Analysis of changes in serum VEGF, β-hCG, and sFlt-1 levels in women with placenta accreta spectrum and the impact on prognosis. 增生性胎盘谱女性血清VEGF、β-hCG、sFlt-1水平变化及对预后的影响分析
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-03 DOI: 10.1515/jpm-2025-0291
Pan Shang, DongMei Pang, YinLing Zhao

Objectives: To explore serum vascular endothelial growth factor (VEGF), β-subunit human chorionic gonadotropin (β-hCG), and soluble Fms-like tyrosine kinasereceptor 1 (sFlt-1) levels in pregnant women with placenta accreta spectrum (PAS) and their prognostic implications.

Methods: Serum levels were measured in PAS patients and non-PAS controls. Depending on the depth of placental penetration into the uterine wall, PAS patients were further classified into placenta accreta, placenta increta and placenta percreta subgroups. Diagnostic efficacy of individual biomarkers and combined indices was evaluated using receiver operating characteristic curves. Correlations between biomarker levels, disease severity, and prognosis were analyzed.

Results: Serum levels of VEGF and β-hCG showed significant positive correlations with the extent of PAS invasion, whereas sFlt-1 levels were inversely associated with disease progression. Combined pregnancy complications, elevated serum VEGF levels and decreased serum sFlt-1 levels were risk factors for poor prognosis in patients with PAS. The AUC values of the indicators combined to predict the diagnosis and prognosis of patients with PAS were greater than serum VEGF, hCG, and sFlt-1 levels alone.

Conclusions: Serum levels of VEGF, β-hCG, and sFlt-1 demonstrate the potential to differentiate between women with and without PAS, and further exhibit a correlation with the depth of myometrial invasion in PAS cases. The combined use of these serum markers enhances both the sensitivity and specificity of prenatal diagnosis and prognostic assessment for PAS compared to individual markers, thereby offering valuable guidance for clinical diagnosis and management of PAS.

目的:探讨胎盘增生谱(PAS)孕妇血清血管内皮生长因子(VEGF)、β-亚基人绒毛膜促性腺激素(β-hCG)和可溶性fms样酪氨酸激酶受体1 (sFlt-1)水平及其与预后的关系。方法:测定PAS患者和非PAS对照组的血清水平。根据胎盘渗入子宫壁的深度,将PAS患者进一步分为增生型胎盘、递增型胎盘和percreta型胎盘亚组。采用受试者工作特征曲线评价单项生物标志物及综合指标的诊断效果。分析生物标志物水平、疾病严重程度和预后之间的相关性。结果:血清VEGF和β-hCG水平与PAS侵袭程度呈显著正相关,而sFlt-1水平与疾病进展呈负相关。合并妊娠并发症、血清VEGF水平升高和血清sFlt-1水平降低是PAS患者预后不良的危险因素。综合这些指标预测PAS患者诊断和预后的AUC值大于单独的血清VEGF、hCG、sFlt-1水平。结论:血清VEGF、β-hCG和sFlt-1水平显示出PAS患者与非PAS患者之间的潜在差异,并进一步显示出与PAS患者肌层浸润深度的相关性。与单项标志物相比,这些血清标志物的联合使用提高了PAS产前诊断和预后评估的敏感性和特异性,从而为PAS的临床诊断和管理提供了有价值的指导。
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引用次数: 0
Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens. 染色体微阵列和全外显子组测序在使用受孕标本评估流产的遗传原因中的临床应用。
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-03 DOI: 10.1515/jpm-2025-0240
Kanaka Durga Devi Yadam Reddy, Suresh Kumaraswamy, Palanichamy Palanikumar, Tajamul Hussain, Shaik Mohammad Naushad

Objectives: To determine the genetic causes of miscarriage by analyzing products of conception (POC).

Methods: Chromosomal microarray (CMA) using the Affymetrix Cytoscan HD array was performed in 172 POC specimens from women experiencing spontaneous miscarriage before 20 weeks of gestation to detect aneuploidies, copy number variants (CNVs), and loss of heterozygosity (LOH). Whole exome sequencing (WES) with Roche KAPA HyperExome V2 probes was used for cases where CMA results were normal.

Results: Common clinical indications included recurrent pregnancy loss, first-time miscarriage, absence of cardiac activity, intrauterine death, and fetal growth restriction (FGR), making up 72.55 % of cases. CMA identified chromosomal abnormalities in 38.37 % of samples, with numerical anomalies in 16.86 % and structural anomalies in 21.51 %. Turner syndrome (5.8 %) and various trisomies (5.8 %) were frequent numerical anomalies. Mosaicism and LOH were observed in 11.04 and 2.91 % of cases. WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield. K-means clustering grouped 17 of these genes into three pathways: chondrocyte differentiation, fibrin clot formation, and Ehlers-Danlos syndrome.

Conclusions: Combining CMA and WES provides a diagnostic yield of 48.83 %, offering a powerful approach to uncover genetic causes of pregnancy loss and guide clinical care.

目的:通过对妊娠产物(POC)的分析,确定流产的遗传原因。方法:使用Affymetrix Cytoscan HD阵列对172例妊娠20周前自然流产妇女的POC标本进行染色体微阵列(CMA)检测,检测非整倍体、拷贝数变异(CNVs)和杂合性缺失(LOH)。对于CMA结果正常的病例,使用Roche KAPA HyperExome V2探针进行全外显子组测序(WES)。结果:常见的临床指征包括反复妊娠丢失、首次流产、心脏无活动、宫内死亡、胎儿生长受限(FGR),占72.55 %。CMA在38.37% %的样本中发现染色体异常,在16.86 %的样本中发现数值异常,在21.51 %的样本中发现结构异常。Turner综合征(5.8% %)和各种三体(5.8% %)是常见的数值异常。嵌合和LOH分别占11.04 %和2.91 %。WES在18例患者中检测到21个基因(如KCNQ1、KCNE1、COL1A2、ROBO1)的致病性或可能致病性突变,诊断率为10.46 %。K-means聚类将这些基因中的17个分为三个途径:软骨细胞分化、纤维蛋白凝块形成和Ehlers-Danlos综合征。结论:CMA和WES联合诊断妊娠流产的诊断率为48.83 %,为揭示遗传原因、指导临床护理提供了有力手段。
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引用次数: 0
Should we conduct a trial of labor in women with a macrosomic fetus? 我们应该对有巨大胎儿的妇女进行分娩试验吗?
IF 1.4 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-03 DOI: 10.1515/jpm-2025-0359
Luís Carlos Machado Junior, Emy Kikugawa, Patricia de Carvalho Jacobsen, Josikwylkson Costa Brito, João Mateus Junior, Heráclito Barbosa de Carvalho

Objectives: There is much debate about the best mode of delivery for the macrosomic fetus. This study compares maternal and neonatal outcomes of macrosomic in prelabor cesareans (PLC) vs. in trials of labor (TOL).

Methods: Retrospective cohort including neonates with birthweight of 4,000 g or more delivered in a public teaching hospital between October 2019 and December 2024. Exclusions: preterm, non cephalic, multiples, fetal death and malformed. Created three composite outcomes: "any serious adverse neonatal outcome", "any adverse maternal outcome", "neonatal respiratory morbidity". Considered significant a value of p<0.05.

Results: Included 611 births. There was no maternal death and, in the group of TOL, one neonatal death; 37.7 % had vaginal births and 62.3 % had cesareans. Were conducted 341 (56 %) TOL's; from these, 32.8 % failed. Among 231 vaginal births, we had 61 (26.4 %) cases of shoulder dystocia, among which 9 neonates were discharged with brachial plexus injury (3.9 % of vaginal births; 1/25). We found a greater frequency of "any neonatal adverse outcome" in TOL, adjusted Odss Ratio (aOR) 6.68; p=0.037. No significant difference in "respiratory morbidity". In TOL, the frequency of "any maternal adverse outcome" was higher: aOR 3.53; p=0.009. A sensivity analysis excluding birthweights of 4,500 g or more had basically the same results.

Conclusions: We had a high frequency of infants discharged with brachial plexus injury. Higher maternal morbidity in TOL could be because of the high rate of failed TOL. Not accessed in this work, there is still some difficulty in correctly identifiying the macrosomic antenatally.

目的:关于巨大胎儿的最佳分娩方式有很多争论。本研究比较了产前剖宫产(PLC)和分娩试验(TOL)中巨体的母婴结局。方法:选取2019年10月至2024年12月在公立教学医院出生的出生体重在4000 g及以上的新生儿为回顾性队列。排除:早产、非头畸形、多胎、死胎和畸形。创建了三个复合结局:“任何严重不良新生儿结局”、“任何不良孕产妇结局”、“新生儿呼吸系统发病率”。结果:纳入611例新生儿。无产妇死亡,TOL组有1例新生儿死亡;顺产37.7 %,剖宫产62.3 %。共341例(56% %)TOL;其中,32.8% %失败。在231例阴道分娩中,有61例(26.4 %)肩难产,其中9例新生儿出院时臂丛损伤(3.9% %;1/25)。我们发现TOL中出现“任何新生儿不良结局”的频率更高,调整后的Odss比(aOR)为6.68;p = 0.037。“呼吸道发病率”无显著差异。在TOL中,“任何母体不良反应”的频率更高:aOR为3.53;p = 0.009。敏感度分析排除了出生体重为4500 g或以上的人群,得出了基本相同的结果。结论:我院婴儿臂丛神经损伤出院的发生率较高。母体TOL的高发病率可能与TOL失败率高有关。在这项工作中,在产前正确识别巨体仍然存在一些困难。
{"title":"Should we conduct a trial of labor in women with a macrosomic fetus?","authors":"Luís Carlos Machado Junior, Emy Kikugawa, Patricia de Carvalho Jacobsen, Josikwylkson Costa Brito, João Mateus Junior, Heráclito Barbosa de Carvalho","doi":"10.1515/jpm-2025-0359","DOIUrl":"https://doi.org/10.1515/jpm-2025-0359","url":null,"abstract":"<p><strong>Objectives: </strong>There is much debate about the best mode of delivery for the macrosomic fetus. This study compares maternal and neonatal outcomes of macrosomic in prelabor cesareans (PLC) vs. in trials of labor (TOL).</p><p><strong>Methods: </strong>Retrospective cohort including neonates with birthweight of 4,000 g or more delivered in a public teaching hospital between October 2019 and December 2024. Exclusions: preterm, non cephalic, multiples, fetal death and malformed. Created three composite outcomes: \"any serious adverse neonatal outcome\", \"any adverse maternal outcome\", \"neonatal respiratory morbidity\". Considered significant a value of p<0.05.</p><p><strong>Results: </strong>Included 611 births. There was no maternal death and, in the group of TOL, one neonatal death; 37.7 % had vaginal births and 62.3 % had cesareans. Were conducted 341 (56 %) TOL's; from these, 32.8 % failed. Among 231 vaginal births, we had 61 (26.4 %) cases of shoulder dystocia, among which 9 neonates were discharged with brachial plexus injury (3.9 % of vaginal births; 1/25). We found a greater frequency of \"any neonatal adverse outcome\" in TOL, adjusted Odss Ratio (aOR) 6.68; p=0.037. No significant difference in \"respiratory morbidity\". In TOL, the frequency of \"any maternal adverse outcome\" was higher: aOR 3.53; p=0.009. A sensivity analysis excluding birthweights of 4,500 g or more had basically the same results.</p><p><strong>Conclusions: </strong>We had a high frequency of infants discharged with brachial plexus injury. Higher maternal morbidity in TOL could be because of the high rate of failed TOL. Not accessed in this work, there is still some difficulty in correctly identifiying the macrosomic antenatally.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145661331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
期刊
Journal of Perinatal Medicine
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