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Surface rendering of cross-sectional imaging and medical illustration for perinatal planning in conjoined twins. 用于连体双胞胎围产期规划的横截面成像表面渲染和医学插图。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-19 DOI: 10.1159/000542700
Francois I Luks, Julie Monteagudo, Scott Collins, Stephanie A Eyerly-Webb, Lisa W Howley, Joseph B Lillegard, Inna N Lobeck, Michael J Beninati

Introduction: Surface rendering of diagnostic imaging data can reveal hidden conditions with an almost lifelike realism. However, early-gestation images alone are often insufficient to accurately predict postnatal anatomy. Yet, time-sensitive decisions may have to be made before detailed imaging becomes possible. In this case series, we evaluate how combining medical illustration with cross-sectional diagnostic imaging can enhance the accuracy and clinical value of early visualization of conjoined twins.

Methods: Early gestation magnetic resonance imaging (MRI) scans underwent semiautomated computerized post-hoc manipulation to allow the medical illustrator to create the most effective images of the twins.

Results: Four sets of conjoined twins were diagnosed before 17 weeks. Surface modeling allowed spatial manipulation of the twins to highlight their anatomic connections. Further volumetric enhancement and critical interpretation of the models assisted the illustrator in creating lifelike, accurate images of the twins. These illustrations allowed parents to visualize the likely presentation at birth, and helped the multidisciplinary team to plan postnatal management.

Conclusion: Surface rendering and surface modeling can be combined with medical illustration to create realistic, informative images of developing fetuses, using a level of detail that is tailored to the intended audience. This may be particularly useful in visualizing complex anomalies like conjoined twins.

引言诊断成像数据的表面渲染可以揭示隐藏的情况,几乎栩栩如生。然而,仅靠早期妊娠图像往往不足以准确预测出生后的解剖结构。然而,在可以进行详细成像之前,可能必须做出具有时间敏感性的决定。在本病例系列中,我们评估了将医学插图与横断面诊断成像相结合如何提高连体婴儿早期可视化的准确性和临床价值:方法:对妊娠早期的磁共振成像(MRI)扫描进行半自动计算机化的事后处理,以便医学插图画家为双胞胎绘制最有效的图像:结果:有四对连体双胞胎在 17 周前被确诊。表面建模允许对双胞胎进行空间操作,以突出其解剖连接。对模型进行进一步的体积增强和批判性解读,有助于插画家为双胞胎绘制逼真、准确的图像。这些插图让父母能够直观地看到双胞胎出生时的可能表现,并帮助多学科团队制定产后管理计划:结论:表面渲染和表面建模可与医学插图相结合,为发育中的胎儿绘制逼真、内容丰富的图像,并根据受众的需求提供相应的细节。这对连体婴儿等复杂畸形的可视化尤为有用。
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引用次数: 0
SPECKLE TRACKING ECHOCARDIOGRAPHY IN TWIN PREGNANCIES AND THE ROLE OF GLOBAL LONGITUDINAL STRAIN AND PEAK SYSTOLIC STRAIN: A SYSTEMATIC REVIEW AND META-ANALYSIS. 斑点追踪超声心动图在双胎妊娠中的应用以及整体纵向应变和收缩压峰值应变的作用:系统回顾和荟萃分析。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-15 DOI: 10.1159/000541981
Eline Meireson, Noortje H M van Oostrum, Judith O E H van Laar, Ellen Roets, Esmée M Bijnens, Liesbeth Lewi, Kristien Roelens

Twin pregnancies are associated with an increased risk of perinatal morbidity and mortality. Pregnancy complications related to twins, such as fetal growth restriction, and twin-to-twin transfusion syndrome (TTTS), are associated with hemodynamic changes in the fetal heart. Two-dimensional speckle tracking echocardiography (2D STE) is a tool to evaluate fetal cardiac function. This paper aims to review the literature regarding global longitudinal strain (rate) and peak systolic strain (rate) assessed with 2D STE in twin pregnancies. Feasibility, frame rate, and angle of the fetal heart at the time of measurement were selected as secondary outcomes. The databases Medline, Embase, Scopus, and Web of Science were searched. Seven articles met the inclusion criteria and selected all monochorionic diamniotic (MCDA) twins with TTTS as the study population. The global longitudinal strain in the right and left ventricle and the peak systolic strain in the right ventricle of the recipient MCDA twin is significantly decreased compared to the donor MCDA twin. 2D STE assessment was shown feasible and reproducible in MCDA pregnancies. Large heterogeneity in technical characteristics between the articles induces inconsistent results. Although feasible, the knowledge of 2D STE is very limited in twin pregnancy. Prospective studies are needed to evaluate the 2D STE assessment in uncomplicated twin pregnancies considering its possible additive value in the diagnostics of pregnancy-related pathologies.

双胞胎妊娠会增加围产期发病率和死亡率。与双胞胎有关的妊娠并发症,如胎儿生长受限、双胎输血综合征(TTTS)等,都与胎儿心脏的血流动力学变化有关。二维斑点追踪超声心动图(2D STE)是评估胎儿心脏功能的一种工具。本文旨在回顾有关在双胎妊娠中使用二维斑点追踪超声心动图评估整体纵向应变(率)和峰值收缩应变(率)的文献。可行性、帧速率和测量时胎儿心脏的角度被选为次要结果。研究人员检索了 Medline、Embase、Scopus 和 Web of Science 等数据库。7篇文章符合纳入标准,并选择了所有患有TTTS的单绒毛膜双胎(MCDA)作为研究对象。与供体MCDA双胎相比,受体MCDA双胎左右心室的整体纵向应变和右心室的收缩期峰值应变明显降低。二维 STE 评估在 MCDA 妊娠中显示出可行性和可重复性。不同文章的技术特点存在很大差异,导致结果不一致。尽管二维 STE 在双胎妊娠中是可行的,但人们对它的了解非常有限。考虑到二维 STE 在妊娠相关病理诊断中可能具有的附加价值,需要进行前瞻性研究,以评估无并发症双胎妊娠中的二维 STE 评估。
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引用次数: 0
Increased risk of persistent pulmonary hypertension of the newborn in twin anaemia polycythaemia sequence donors. 双胎贫血多囊肾序列供体新生儿持续性肺动脉高压的风险增加。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-12 DOI: 10.1159/000542493
Margot J A van de Sande, Femke Slaghekke, Arjan B Te Pas, Ruben S G M Witlox, Enrico Lopriore, Lisanne S A Tollenaar

Introduction This study aimed to describe the prevalence and risk factors for respiratory complications in monochorionic twins with twin anaemia polycythaemia sequence (TAPS). Methods All neonates diagnosed with postnatal TAPS at our centre between 2002 and 2023 were included in this retrospective study. The primary outcome was the prevalence of respiratory complications, including respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD) and persistent pulmonary hypertension of the newborn (PPHN). Secondary outcomes included need of respiratory support during admission and a risk-factor analysis for adverse respiratory outcome. Results In our study of 100 postnatally diagnosed TAPS pregnancies, 32% (62/199) experienced RDS and 13% (25/199) had BPD, with no difference between donors and recipients. PPHN occurred in 7% of cases, more frequently in donors (11%, 11/100) than in recipients (3%, 3/100) (OR = 1.3, 95%CI 0.2-2.6). Lower gestational age at birth and severe fetal anaemia were found to be significant independent risk factors associated with PPHN in TAPS twins (OR = 0.3, 95%CI 0.1-0.5), respectively (OR = 1.9, 95%CI 0.8-3.1). Conclusion TAPS donor twins have a four-fold increased risk of PPHN due to anaemia compared to recipient twins. Given the life-threatening nature of PPHN, TAPS twins should be born in hospitals equipped to treat it.

导言 本研究旨在描述患有双胎贫血多囊肾序列(TAPS)的单绒毛膜双胎中呼吸系统并发症的发生率和风险因素。方法 将 2002 年至 2023 年期间在本中心确诊为产后 TAPS 的所有新生儿纳入这项回顾性研究。主要结果是呼吸系统并发症的发生率,包括呼吸窘迫综合征(RDS)、支气管肺发育不良(BPD)和新生儿持续性肺动脉高压(PPHN)。次要结果包括入院时是否需要呼吸支持以及不良呼吸结局的风险因素分析。结果 在我们对 100 例产后确诊的 TAPS 孕妇进行的研究中,32%(62/199)的孕妇出现 RDS,13%(25/199)的孕妇出现 BPD,供体和受体之间没有差异。PPHN 发生率为 7%,供体(11%,11/100)比受体(3%,3/100)更常见(OR = 1.3,95%CI 0.2-2.6)。在 TAPS 双胞胎中,较低的出生胎龄和严重的胎儿贫血分别是与 PPHN 相关的重要独立风险因素(OR = 0.3,95%CI 0.1-0.5)和(OR = 1.9,95%CI 0.8-3.1)。结论 与受体双胞胎相比,TAPS 供体双胞胎因贫血导致 PPHN 的风险增加了四倍。鉴于 PPHN 会危及生命,TAPS 双胞胎应在具备治疗条件的医院出生。
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引用次数: 0
Cord occlusion in twin reversed arterial perfusion sequence: a retrospective study of laser photocoagulation vs radiofrequency ablation. 孪生反向动脉灌注序列中的脐带闭塞:激光光凝术与射频消融术的回顾性研究。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-07 DOI: 10.1159/000542494
Emi J Komatsu, Catherine Hamzeh, Grace Hamadeh, Arlyn Llanes, Lisa M Korst, Ramen H Chmait

Introduction: Twin reversed arterial perfusion (TRAP) sequence is a rare condition complicating monozygotic multiple gestations. Prenatal management via umbilical cord occlusion (UCO) of the anomalous twin has been shown to improve pump twin survival. We compared outcomes of gestations with high-risk TRAP sequence treated with mid-trimester UCO using laser photocoagulation vs radiofrequency ablation (RFA).

Methods: This is a retrospective, single-center, cohort study of all patients with high-risk TRAP sequence who underwent UCO from 2006-2023. High-risk criteria were defined as follows: larger abdominal circumference of the anomalous twin, polyhydramnios, critically abnormal Doppler waveforms in the pump twin, hydrops in the pump twin, and/or monoamniotic twins. The primary outcome was 30-day survival of the pump twin.

Results: The 74 patients were divided equally between the laser and RFA groups. For the 2 groups, mean gestational age (GA) at UCO (20.5 ± 2.3 vs 20.7 ± 3.1 weeks, P=.987) and mean GA at delivery (35.2 ± 4.6 vs 34.5 ± 5.7 weeks, P=.812) were similar. The 30-day neonatal survival rate did not differ (91.9% [34/37] vs 89.2% [33/37], OR: 1.37 [0.29-6.61], P=.692).

Conclusion: No difference in 30-day neonatal survival was identified in patients with high-risk TRAP sequence who underwent mid-trimester UCO by laser vs RFA.

导言双胎反向动脉灌注(TRAP)序列是一种罕见的单卵多胎妊娠并发症。对异常双胎进行脐带闭塞(UCO)的产前处理已被证明可提高泵双胎的存活率。我们比较了采用激光光凝术与射频消融术(RFA)进行妊娠中期 UCO 治疗的高风险 TRAP 序列妊娠的结果:这是一项回顾性、单中心、队列研究,研究对象为 2006-2023 年间接受 UCO 治疗的所有 TRAP 序列高风险患者。高风险标准定义如下:异常双胎腹围较大、多羊水、泵双胎多普勒波形严重异常、泵双胎水肿和/或单羊水双胎。主要结果为泵双胎的 30 天存活率:74名患者平均分为激光组和射频消融组。两组的UCO平均胎龄(20.5 ± 2.3 vs 20.7 ± 3.1周,P=.987)和分娩平均胎龄(35.2 ± 4.6 vs 34.5 ± 5.7周,P=.812)相似。新生儿 30 天存活率无差异(91.9% [34/37] vs 89.2% [33/37],OR:1.37 [0.29-6.61],P=.692):结论:高危 TRAP 序列患者在妊娠中期接受激光 UCO 与接受 RFA 治疗的 30 天新生儿存活率没有差异。
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引用次数: 0
Added value in low-risk pregnancies of longitudinal changes in uterine Doppler and circulating angiogenic factors during the third trimester in predicting term preeclampsia. 在低危妊娠中,子宫多普勒和循环血管生成因子在妊娠三个月内的纵向变化在预测期前子痫方面的附加值。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-04 DOI: 10.1159/000541731
Lucie Roubalova, Vladimira Kroutilova, Maria Fernanda Lopez-G Tinajero, Judit Martinez-Egea, Claudia Pumarola, Francesc Figueras, Marek Lubusky

Introduction: To assess the relationship between longitudinal changes in the uterine Doppler velocimetry and the maternal profile of angiogenic factors in the third trimester of pregnancy and to assess their ability to predict term preeclampsia.

Methods: A cohort of low-risk pregnant women was constructed at second trimester routine scan and scheduled for a uterine Doppler evaluation and measurement of the circulating levels of angiogenic factors at ~30 and ~36 weeks. The performance of both parameters at both time-points and their change over time from the first to the second measurement in predicting term preeclampsia was evaluated by logistic regression and receiver operating characteristic curve (ROC) analyses.

Results: A total of 1172 women were analyzed, of which 28 (2.4%) women developed term preeclampsia. At ~30 weeks, a model including the ratio sFlt-1/PlGF (fms-like tyrosine kinase-1/placental growth factor) and the uterine Doppler explained 16.2% of the uncertainty of developing term preeclampsia, while at ~36 weeks the same variables explained 25.2% [p<0.001]. A model including the longitudinal changes of both predictors had an R2 of 26.8%, which was not significantly different from that of the ~36 weeks evaluation [p=0.45]. The area under the curve (AUC) of the ~36 weeks sFlt-1/PlGF ratio was significantly higher than at ~30 weeks (0.86 [0.77-0.94] vs. 0.81 [0.73-0.9]; p=0.043). The AUC of the 30-to-36 week change of the sFlt-1/PlGF ratio (0.85 [0.77-0.94]) did not significantly differ from that of at ~36 weeks (p=0.82). At ~36 weeks, for a 10% of false positives, the sFlt-1/PlGF ratio had a detection rate of 71.4%, with positive and negative likelihood ratios of 7.3 and 0.32, respectively.

Conclusion: A cross-sectional measurement of the sFlt-1/PlGF ratio outperforms uterine Doppler in predicting term preeclampsia. The combination of both markers does not improve such prediction, nor the evaluation of the longitudinal changes between ~30 and ~36 weeks.

引言目的:评估妊娠三个月时子宫多普勒速度测量的纵向变化与母体血管生成因子概况之间的关系,并评估其预测子痫前期的能力:方法:在妊娠后三个月常规扫描时建立低危孕妇队列,并计划在妊娠约 30 周和 36 周时进行子宫多普勒评估和血管生成因子循环水平测量。通过逻辑回归和接收器操作特征曲线(ROC)分析,评估了这两个时间点的两个参数及其从第一次测量到第二次测量的时间变化在预测子痫前期方面的性能:共对 1172 名妇女进行了分析,其中 28 名妇女(2.4%)出现了足月子痫前期。在妊娠约 30 周时,包括 sFlt-1/PlGF(类酪氨酸激酶-1/胎盘生长因子)比率和子宫多普勒在内的模型可解释 16.2% 的足月子痫前期不确定性,而在妊娠约 36 周时,同样的变量可解释 25.2% 的不确定性[p结论:在预测足月子痫前期方面,sFlt-1/PlGF 比率的横断面测量结果优于子宫多普勒。将这两种标记物结合使用并不能提高预测效果,也不能评估在 ~30 周和 ~36 周之间的纵向变化。
{"title":"Added value in low-risk pregnancies of longitudinal changes in uterine Doppler and circulating angiogenic factors during the third trimester in predicting term preeclampsia.","authors":"Lucie Roubalova, Vladimira Kroutilova, Maria Fernanda Lopez-G Tinajero, Judit Martinez-Egea, Claudia Pumarola, Francesc Figueras, Marek Lubusky","doi":"10.1159/000541731","DOIUrl":"https://doi.org/10.1159/000541731","url":null,"abstract":"<p><strong>Introduction: </strong>To assess the relationship between longitudinal changes in the uterine Doppler velocimetry and the maternal profile of angiogenic factors in the third trimester of pregnancy and to assess their ability to predict term preeclampsia.</p><p><strong>Methods: </strong>A cohort of low-risk pregnant women was constructed at second trimester routine scan and scheduled for a uterine Doppler evaluation and measurement of the circulating levels of angiogenic factors at ~30 and ~36 weeks. The performance of both parameters at both time-points and their change over time from the first to the second measurement in predicting term preeclampsia was evaluated by logistic regression and receiver operating characteristic curve (ROC) analyses.</p><p><strong>Results: </strong>A total of 1172 women were analyzed, of which 28 (2.4%) women developed term preeclampsia. At ~30 weeks, a model including the ratio sFlt-1/PlGF (fms-like tyrosine kinase-1/placental growth factor) and the uterine Doppler explained 16.2% of the uncertainty of developing term preeclampsia, while at ~36 weeks the same variables explained 25.2% [p<0.001]. A model including the longitudinal changes of both predictors had an R2 of 26.8%, which was not significantly different from that of the ~36 weeks evaluation [p=0.45]. The area under the curve (AUC) of the ~36 weeks sFlt-1/PlGF ratio was significantly higher than at ~30 weeks (0.86 [0.77-0.94] vs. 0.81 [0.73-0.9]; p=0.043). The AUC of the 30-to-36 week change of the sFlt-1/PlGF ratio (0.85 [0.77-0.94]) did not significantly differ from that of at ~36 weeks (p=0.82). At ~36 weeks, for a 10% of false positives, the sFlt-1/PlGF ratio had a detection rate of 71.4%, with positive and negative likelihood ratios of 7.3 and 0.32, respectively.</p><p><strong>Conclusion: </strong>A cross-sectional measurement of the sFlt-1/PlGF ratio outperforms uterine Doppler in predicting term preeclampsia. The combination of both markers does not improve such prediction, nor the evaluation of the longitudinal changes between ~30 and ~36 weeks.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-24"},"PeriodicalIF":1.6,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575593","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
Sequence of events leading to medical abortion for fetal indications after 34 weeks' gestation: 23 years of experience in a single medical center. 妊娠 34 周后因胎儿指征导致药物流产的事件顺序:一家医疗中心 23 年的经验。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-01 DOI: 10.1159/000540674
Marina Pekar Zlotin, Yael Nehama Berman, Yaacov Melcer, Howard Cuckle, Ron Maymon

Introduction: Technical advances are rapidly improving the ability to detect anatomical malformations and genetic abnormalities during pregnancy. We aimed to identify the sequence of events leading to medical abortion ≥ 34 weeks' gestation, to determine whether the procedure could have been carried out earlier.

Method: Retrospective study of medical abortions in singleton pregnancies carried out in our department over a 23-year period from1998 to 2021.

Results: 36/4055 (0.88%) abortions were carried out ≥ 34 weeks' gestation. The indications were anatomical in 20 (55%), chromosomal or genetic in 14 (39%) and CMV infection In two. Evaluation of the sequence of events suggests that an earlier diagnosis would have been unfeasible before the third trimester in 18 cases (50%) because the disorder was developmental and ultrasound findings would not have presented earlier. By contrast, certain other cases might have been diagnosed earlier if the patient had not delayed routine screening or if screening had been administered on schedule.

Conclusion: In this series, full adherence to local screening tests and protocols, and timely decision-making could have substantially reduced the late abortion rate by as much as half.

导言:技术的进步迅速提高了检测孕期解剖畸形和遗传异常的能力。我们的目的是确定导致妊娠≥34 周药物流产的事件顺序,以确定是否可以更早进行手术:方法:对1998年至2021年23年间在我科进行的单胎妊娠药物流产进行回顾性研究:结果:36/4055(0.88%)例妊娠≥34周的人工流产。20例(55%)流产的适应症为解剖学原因,14例(39%)为染色体或遗传学原因,2例为巨细胞病毒感染。对事件发生顺序的评估表明,18 例(50%)患者在妊娠三个月前不可能得到早期诊断,因为他们的疾病是发育性的,超声检查结果不会更早出现。相比之下,如果患者没有推迟常规筛查或按计划进行筛查,其他一些病例可能会更早得到诊断:在这一系列病例中,如果能完全遵守当地的筛查测试和方案,并及时做出决定,则可将晚期流产率大幅降低一半之多。
{"title":"Sequence of events leading to medical abortion for fetal indications after 34 weeks' gestation: 23 years of experience in a single medical center.","authors":"Marina Pekar Zlotin, Yael Nehama Berman, Yaacov Melcer, Howard Cuckle, Ron Maymon","doi":"10.1159/000540674","DOIUrl":"https://doi.org/10.1159/000540674","url":null,"abstract":"<p><strong>Introduction: </strong>Technical advances are rapidly improving the ability to detect anatomical malformations and genetic abnormalities during pregnancy. We aimed to identify the sequence of events leading to medical abortion ≥ 34 weeks' gestation, to determine whether the procedure could have been carried out earlier.</p><p><strong>Method: </strong>Retrospective study of medical abortions in singleton pregnancies carried out in our department over a 23-year period from1998 to 2021.</p><p><strong>Results: </strong>36/4055 (0.88%) abortions were carried out ≥ 34 weeks' gestation. The indications were anatomical in 20 (55%), chromosomal or genetic in 14 (39%) and CMV infection In two. Evaluation of the sequence of events suggests that an earlier diagnosis would have been unfeasible before the third trimester in 18 cases (50%) because the disorder was developmental and ultrasound findings would not have presented earlier. By contrast, certain other cases might have been diagnosed earlier if the patient had not delayed routine screening or if screening had been administered on schedule.</p><p><strong>Conclusion: </strong>In this series, full adherence to local screening tests and protocols, and timely decision-making could have substantially reduced the late abortion rate by as much as half.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-12"},"PeriodicalIF":1.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575598","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
Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study. 产前 CMA 中意义不明的胎儿变异的产后结局:一项单中心研究。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-20 DOI: 10.1159/000542147
Lizhong Yin, Jing Wang, Bin Zhang, Wenli Wang, Bin Yu

Introduction: Chromosomal microarray analysis (CMA) can identify clinically significant microdeletions and microduplications, providing valuable insights into the genetic basis of various disorders. Our study was to evaluate clinical management and prognosis of fetuses with prenatal variants of unknown significance (VOUS) and determine diagnostic approaches for subsequent pregnancies.

Methods: This study included 2,953 fetuses undergoing CMA at the Prenatal Diagnostic Center of Changzhou Maternal and Child Health Care Hospital from January 2018 to December 2022, identifying 162 cases with VOUS. Parent-of-origin testing determined the origin of copy number variations. Prenatal genetic counseling was provided, and outcomes were followed for 3-36 months post-birth.

Results: All 162 VOUS cases received prenatal genetic counseling. Among these, 123 continued the pregnancy; 22 chose termination, and 17 were lost to follow-up. Of the continuations, 116 delivered at term and 7 preterm. Post-birth follow-up showed 5/123 live-born fetuses developed relevant clinical phenotypes. Parent-of-origin testing in 21 cases identified 18 hereditary and 3 de novo variants. Additionally, five subsequent pregnancies were monitored, with two undergoing amniocentesis and three receiving low-risk noninvasive prenatal testing, all with positive outcomes.

Conclusion: VOUS, occurring in approximately 5% of cases, require comprehensive prenatal genetic counseling and show generally favorable outcomes. Despite low association with adverse clinical phenotypes, the importance of postnatal follow-up and regular report updates is emphasized to detect potential clinical associations early.

简介染色体微阵列分析(CMA)可识别具有临床意义的微缺失和微重复,为了解各种疾病的遗传基础提供有价值的信息。我们的研究旨在评估产前意义不明变异(VOUS)胎儿的临床管理和预后,并确定后续妊娠的诊断方法:本研究纳入了2018年1月至2022年12月在常州市妇幼保健院产前诊断中心接受染色体微阵列分析(CMA)的2953例胎儿,共发现162例VOUS。亲本检测确定了拷贝数变异(CNV)的来源。提供产前遗传咨询,并对出生后3-36个月的结果进行随访:所有 162 例 VOUS 均接受了产前遗传咨询。结果:162 例 VOUS 均接受了产前遗传咨询,其中 123 例继续妊娠,22 例选择终止妊娠,17 例失去随访机会。在继续妊娠的孕妇中,116 人足月分娩,7 人早产。产后随访显示,5/123 的活产胎儿出现了相关的临床表型。对 21 个病例的原发父母进行了检测,发现了 18 个遗传变异和 3 个新生变异。此外,还对五例后续妊娠进行了监测,其中两例进行了羊膜腔穿刺术,三例接受了低风险无创产前检测(NIPT),结果均为阳性:结论:VOUS 的发生率约为 5%,需要进行全面的产前遗传咨询,其结果普遍良好。尽管VOUS与不良临床表型的相关性较低,但强调了产后随访和定期报告更新的重要性,以便及早发现潜在的临床关联。
{"title":"Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study.","authors":"Lizhong Yin, Jing Wang, Bin Zhang, Wenli Wang, Bin Yu","doi":"10.1159/000542147","DOIUrl":"10.1159/000542147","url":null,"abstract":"<p><strong>Introduction: </strong>Chromosomal microarray analysis (CMA) can identify clinically significant microdeletions and microduplications, providing valuable insights into the genetic basis of various disorders. Our study was to evaluate clinical management and prognosis of fetuses with prenatal variants of unknown significance (VOUS) and determine diagnostic approaches for subsequent pregnancies.</p><p><strong>Methods: </strong>This study included 2,953 fetuses undergoing CMA at the Prenatal Diagnostic Center of Changzhou Maternal and Child Health Care Hospital from January 2018 to December 2022, identifying 162 cases with VOUS. Parent-of-origin testing determined the origin of copy number variations. Prenatal genetic counseling was provided, and outcomes were followed for 3-36 months post-birth.</p><p><strong>Results: </strong>All 162 VOUS cases received prenatal genetic counseling. Among these, 123 continued the pregnancy; 22 chose termination, and 17 were lost to follow-up. Of the continuations, 116 delivered at term and 7 preterm. Post-birth follow-up showed 5/123 live-born fetuses developed relevant clinical phenotypes. Parent-of-origin testing in 21 cases identified 18 hereditary and 3 de novo variants. Additionally, five subsequent pregnancies were monitored, with two undergoing amniocentesis and three receiving low-risk noninvasive prenatal testing, all with positive outcomes.</p><p><strong>Conclusion: </strong>VOUS, occurring in approximately 5% of cases, require comprehensive prenatal genetic counseling and show generally favorable outcomes. Despite low association with adverse clinical phenotypes, the importance of postnatal follow-up and regular report updates is emphasized to detect potential clinical associations early.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461402","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
Fetal Hypoplastic Left Heart Syndrome with Intact Atrial Septum: From Successful in utero Stenting to Subtotal Stent Occlusion - A Case Report. 胎儿左心发育不良综合征伴完整的心房隔膜:从胎儿期支架植入成功到次全支架闭塞--病例报告。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-16 DOI: 10.1159/000542069
Andreas Tulzer, Iris Scharnreitner, Eva Sames-Dolzer, Michaela Kreuzer, Rudolf Mair, Gerald Tulzer

Introduction: Fetuses with hypoplastic left heart syndrome (HLHS) and intact atrial septum (IAS) have an overall poor prognosis and a high risk of neonatal death due to severe secondary lung damage. Intrauterine stenting of the atrial septum was introduced in these patients to enable survival.

Case presentation: We present a case of a HLHS fetus with IAS and signs of incipient nutmeg lung, in whom at 30 weeks gestation an atrial stent was successfully placed but continuously developed subtotal stent-obstruction over the next weeks.

Conclusion: Continuous obstruction of placed atrial septum stents until delivery is possible and requires close monitoring of successfully treated fetuses.

简介患有左心室发育不全综合征(HLHS)和完整房间隔(IAS)的胎儿总体预后较差,而且由于严重的继发性肺损伤,新生儿死亡的风险很高。为了让这些患者存活下来,我们在宫内为他们植入了房间隔支架:我们介绍了一例 HLHS 胎儿,其房间隔完整,有初期肉豆蔻肺的体征,在妊娠 30 周时成功放置了心房支架,但在接下来的几周内持续出现支架下梗阻:结论:放置的房间隔支架在分娩前持续阻塞是可能的,需要对成功治疗的胎儿进行密切监测。
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引用次数: 0
Utility of 3-Dimensional Modeling in Prenatally Diagnosed Large Fetal Neck Mass. 三维建模在产前诊断胎儿颈部巨大肿块中的应用。
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-10 DOI: 10.1159/000541950
Devashish S Joshi, Michael A Stellon, Michael D Puricelli, Michael J Beninati, Sylvana Garcia-Rodriguez, Casey Winchester, Teresa Chapman, Inna N Lobeck

Introduction: Prenatally diagnosed large fetal neck mass requires multidisciplinary consultation and evaluation of perinatal treatment options. The decision to perform ex utero intrapartum treatment (EXIT) is based on risk-benefit assessment for both the infant and mother. Though fetal ultrasound and MRI assist with operative planning, a three-dimensional anatomic model offers improved anatomic visualization and prenatal patient counseling.

Case presentation: Multiple surveillance ultrasound exams between gestational weeks 16 and 32 plus fetal MRI at 29/3 weeks were performed for fetal evaluation. A 3-dimensional model was printed (Form 3 and 3L, clear resin, Formlabs) incorporating fetal MRI (Ax SSFSE TE 100 DL and Cor SSFSE Brain DL) and using Mimics Medical and 3-matic Medical software (Materialise). A left fetal multicystic neck mass measuring 2.1 × 1.8 × 1.5 cm was diagnosed at 16/6 weeks gestation in a G8P2416. Fetal MRI performed at 29/3 weeks showed a large exophytic mixed solid-cystic cervicofacial mass, 10.3 × 9.4 × 10.6 cm arising from the left mandible, concerning for a teratoma. Prior to delivery, the model was used to educate and counsel the family regarding the complex clinical situation and the reasoning for delivery via EXIT followed by mass resection. Additionally, the model demonstrated tracheal narrowing and oropharyngeal compression, supporting airway intervention planning. The fetus was delivered at 32/3 weeks via EXIT to intubation using rigid bronchoscopy. Duration of time on placental support was 12 min. On day of life 5, the patient underwent resection of the cervical mass. Pathology revealed an immature teratoma, histologic grade 3 without yolk sac elements, and negative regional lymph nodes.

Conclusion: Three-dimensional fetal modeling facilitates perinatal airway needs assessment, patient counseling, delivery, and postnatal management.

导言:产前确诊胎儿颈部巨大肿块需要多学科会诊,并评估围产期治疗方案。产前治疗(EXIT)的决定基于对婴儿和母亲的风险效益评估。虽然胎儿超声和核磁共振成像有助于手术规划,但三维解剖模型可提供更好的解剖可视化和产前患者咨询:病例介绍:在孕 16 至 32 周期间进行了多次超声监测检查,并在孕 29/3 周时进行了胎儿核磁共振成像,以评估胎儿情况。结合胎儿核磁共振成像(Ax SSFSE TE 100 DL 和 Cor SSFSE Brain DL)并使用 Mimics Medical 和 3-matic Medical 软件(Materialise)打印了一个三维模型(Form 3 和 3L,透明树脂,Formlabs)。一名 G8P2416 孕妇在妊娠 16/6 周时被诊断出左侧胎儿多囊性颈部肿块,大小为 2.1x1.8x1.5 厘米。29/3周时进行的胎儿核磁共振成像(MRI)显示,一个巨大的外生混合实性囊性颈面部肿块(10.3 x 9.4 x 10.6 cm)从左下颌骨处长出,疑似畸胎瘤。在分娩前,该模型用于教育和指导家属,让他们了解复杂的临床情况,以及通过 EXIT 分娩并切除肿块的理由。此外,模型还显示了气管狭窄和口咽受压的情况,为气道干预计划提供了支持。胎儿在 32/3 周时通过 EXIT 顺产,并使用硬质支气管镜进行了插管。胎盘支持时间为 12 分钟。在生命的第 5 天,患者接受了宫颈肿块切除术。病理结果显示为未成熟畸胎瘤,组织学 3 级,无卵黄囊成分,区域淋巴结阴性:三维胎儿建模有助于围产期气道需求评估、患者咨询、分娩和产后管理。
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引用次数: 0
The Mortality of Politics: An American Paradox. 政治的死亡:美国的悖论
IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-09 DOI: 10.1159/000541912
Mark I Evans, Gregory F Ryan, David W Britt, Christian R Macedonia

Introduction: The USA has the poorest health statistics of any high-income country. Political polarization has risen dramatically; newer safety net programs (the Affordable Care Act [ACA]) are unevenly provided because many Republican-leaning states refused expanded Federal coverage. Democratic programs have reduced physician leadership of medicine. Both have been deleterious. Here, we investigated associations among four key health measures two of which directly impact pregnancy outcomes and two that affect all patients by percentage of each state that voted for the Republican versus Democratic candidate in the 2020 presidential election.

Methods: For each state, we used public, non-partisan databases to assess the incidence of COVID, maternal, and infant mortality per 100,000 population and average life expectancy. Correlations among these four outcome variables and percentage Republican vote were calculated (r), contextualized by measuring associations with related variables including COVID vaccination rates, access to medical care, and incidences of heart disease, obesity, diabetes, gunshot deaths, and automotive fatalities.

Results: COVID mortality, maternal and infant mortality, and life expectancy were highly correlated with percentage Republican ("red") vote per state. If "red" states had vaccination rates equivalent to Democratic-leaning ("blue") states, 72,000 deaths could have been avoided. Overall, "red" states have lower health metrics, reduced access to care, and higher comorbidities.

Conclusion: The percent Republican vote was strongly associated, but not the whole answer, with worse health outcomes for multiple key measures of public health including mortality, access to care, and various comorbidities. Overall, the ACA has improved patient access to care but has also led to "maternity care deserts" disproportionately in rural areas in "red" states. Translating insurance coverage into improved care and outcomes requires further analysis and will require multi-pronged approaches including expanding coverage and incentivizing quality care.

导言:在所有高收入国家中,美国的健康统计数据最差。政治两极分化急剧加剧;较新的安全网计划(《平价医疗法案》[ACA])提供的医疗服务并不均衡,因为许多倾向于共和党的州拒绝扩大联邦保险的覆盖范围。民主党的计划削弱了医生对医疗的领导。两者都是有害的。在此,我们根据各州在 2020 年总统大选中投票支持共和党候选人和民主党候选人的比例,调查了四项关键健康指标之间的关联,其中两项直接影响妊娠结果,另外两项影响所有患者:对于每个州,我们使用非党派的公共数据库来评估每 10 万人中 COVID、孕产妇和婴儿死亡率的发生率以及平均预期寿命。我们计算了这四个结果变量与共和党选票百分比之间的相关性(r),并衡量了与相关变量(包括 COVID 疫苗接种率、获得医疗保健的机会以及心脏病、肥胖症、糖尿病、枪击死亡和汽车死亡事故的发生率)之间的关联:结果:COVID 死亡率、母婴死亡率和预期寿命与每个州的共和党("红色")选票百分比高度相关。如果 "红色 "州的疫苗接种率与民主党倾向州("蓝色")相当,则可避免 72,000 例死亡。总体而言,"红色 "州的健康指标较低,获得医疗服务的机会较少,合并症较多:结论:共和党选票的百分比与公共卫生的多个关键指标(包括死亡率、获得医疗服务的机会和各种合并症)的健康状况较差密切相关,但不是全部答案。总体而言,《医疗保险法》改善了患者获得医疗服务的机会,但也导致了 "红色 "州农村地区的 "孕产妇医疗荒漠"。将保险覆盖率转化为更好的护理和结果需要进一步分析,并需要多管齐下的方法,包括扩大覆盖率和激励优质护理。
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Fetal Diagnosis and Therapy
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