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Klippel–Trenaunay–Weber Syndrome—Case Report: Diagnostic Role of Fetal Autopsy and Histopathology klippel - trenauny - weber综合征病例报告:胎儿尸检和组织病理学的诊断作用
Pub Date : 2023-10-13 DOI: 10.1055/s-0043-1774756
Poornima Sharma, Shreya Singh Kushwaha, Suchandana Dasgupta, Sumitra Bachani
Abstract Objectives The aim of this study was to evaluate a case of Klippel–Trenaunay–Weber Syndrome (KTWS) diagnosed at 15 weeks of gestation. Materials and Methods A 30-year-old G4P1L1A2 at 15 weeks gestation was detected with abnormal fetal right lower limb thickness and hypervascularity in both thighs. Multiseptated hypoechoic areas were detected involving skin and subcutaneous tissue of the left shoulder region, axilla, chest wall, and lower back region posteriorly extending into both lower limbs associated with cortical thickening of long bones of the lower limb. Significant subcutaneous thickening was present in the right foot along with a slow flow vascular malformation. The couple did not opt for any prenatal testing and continued the pregnancy. Results The patient received routine antenatal care and at 27 weeks of gestation there was polyhydramnios with fetal demise. She delivered a macerated stillborn baby girl weighing 2.5 kg (>99th centile). Consent was obtained for external autopsy, fetal photographs, and tissue biopsy. The fetus was grossly macerated. The skin was hypertrophied and subcutaneous tissue along with bluish discoloration was present over the affected areas. Histopathology of fetal thigh tissue was suggestive of arteriovenous malformation compatible with a diagnosis of KTWS. Conclusions KTWS has unique sonographic features. Confirmation can be done by clinical exome sequencing of amniotic fluid or fetal tissue.
摘要目的本研究的目的是评估一例妊娠15周诊断为klipppel - trenauny - weber综合征(KTWS)。材料与方法1例30岁妊娠15周的G4P1L1A2胎儿右下肢粗细异常,双侧大腿血管增生。在左肩、腋窝、胸壁和下背部的皮肤和皮下组织中发现多隔低回声区,向后延伸至双下肢,并伴有下肢长骨皮质增厚。右脚皮下明显增厚,伴慢流血管畸形。这对夫妇没有选择任何产前检查,而是继续怀孕。结果患者接受常规产前护理,妊娠27周出现羊水过多死胎。她生下了一个被浸泡过的死产女婴,体重2.5公斤(99百分位)。获得外部尸检、胎儿照片和组织活检的同意。胎儿被粗暴地浸泡了。皮肤肥大,受影响的区域出现皮下组织和蓝色变色。胎儿大腿组织的组织病理学提示动静脉畸形与KTWS的诊断相一致。结论KTWS具有独特的超声特征。可以通过羊水或胎儿组织的临床外显子组测序来证实。
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引用次数: 0
Demonstration of Double Aortic Arch in a 21 Weeks Primigravida by Color Spatiotemporal Image Correlation Rendering Technique 用彩色时空图像相关渲染技术显示21周初诊双主动脉弓
Pub Date : 2023-10-13 DOI: 10.1055/s-0043-1774755
Shankar Dey
Abstract Fetal double aortic arch (DAA) is a rare congenital arch anomaly characterized by the presence of two aortic arches instead of the normal single arch. DAA is an uncommon finding during routine fetal echocardiography. Prenatal ultrasound detection of fetal DAA is crucial for early identification and appropriate management of affected fetuses. Despite the challenges and limitations, advancements in imaging technology and expertise have improved diagnostic accuracy. Four-dimensional (4D) ultrasound provides a volumetric representation of the fetal structures. It allows for better visualization and assessment of complex anatomical abnormalities, including DAA. With 4D imaging, the sonographer can manipulate the image, rotate it, and view it from different angles, aiding in the identification of the double arch anomaly This is a case of double aortic arch diagnosed with the spatiotemporal image correlation (STIC) technique of 4D ultrasound using color Doppler.
胎儿双主动脉弓(DAA)是一种罕见的先天性弓异常,其特征是存在两个主动脉弓而不是正常的单个主动脉弓。DAA是一种罕见的发现在常规胎儿超声心动图。产前超声检测胎儿DAA是早期识别和适当处理的影响胎儿至关重要。尽管存在挑战和局限性,但成像技术和专业知识的进步提高了诊断的准确性。四维(4D)超声提供胎儿结构的体积表示。它可以更好地可视化和评估复杂的解剖异常,包括DAA。利用四维成像技术,超声医师可以对图像进行操纵、旋转,并从不同角度观察图像,以帮助识别双主动脉弓异常。本病例采用彩色多普勒四维超声时空图像相关(STIC)技术诊断双主动脉弓。
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引用次数: 0
A Rare Case of Fetal Hydrocolpos Secondary to Low Vaginal Atresia 继发于阴道低位闭锁的胎儿阴积水1例
Pub Date : 2023-10-13 DOI: 10.1055/s-0043-1774754
Athira Rajamma, Megha Venkataraman
Abstract Female urogenital anomalies are often difficult to evaluate by ultrasonography, especially in late gestation. We report a case of fetal hydrocolpos detected by a fetal medicine scan at 33 weeks of gestation. Antenatal ultrasound by the fetal medicine unit showed a singleton fetus with a huge retrovesical cystic mass extending from the mid-abdomen to the perineum. Bilateral hydronephrosis was noted. Postnatal ultrasound showed the findings of a markedly dilated vagina containing thick echogenic fluid that was extended up to the umbilical level displacing the urinary bladder upwards and anteriorly and rectum posteriorly, suggesting hydrocolpos. Bilateral hydronephrosis was also noted. Postnatal examination of the neonate showed a distended abdomen with a well-defined mass arising from the pelvis extended to the umbilicus. External genitalia were of a normal female. There were no other dysmorphic features. Hydrocolpos was secondary to low vaginal atresia. Aspiration of the mass was performed on the first postnatal day.
女性泌尿生殖器异常通常难以通过超声检查评估,特别是在妊娠后期。我们报告一例胎儿阴积水检测胎儿医学扫描在33周妊娠。胎儿医学单位的产前超声显示一单胎胎儿,巨大的膀胱后囊性肿块从腹部中部延伸到会阴。双侧肾积水。产后超声显示阴道明显扩张,含有粘稠的回声液体,并延伸至脐水平,膀胱向上向前移动,直肠向后移动,提示直肠积水。双侧肾积水也被注意到。新生儿的产后检查显示腹部膨胀,有一个清晰的肿块,从骨盆延伸到脐。正常女性外生殖器。没有其他畸形的特征。阴道积水继发于阴道低位闭锁。在出生后第一天进行肿块吸出。
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引用次数: 0
Congenital Intracranial Teratoma: Management Challenges! 先天性颅内畸胎瘤:管理挑战!
Pub Date : 2023-10-10 DOI: 10.1055/s-0043-1771523
Saiseema V. Sarva, Megha Venkataraman
Abstract Congenital brain tumors are extremely rare. Among them teratomas are the most common. They make up one-third of all congenital brain tumors. Late diagnosis, poor prognosis, and majority being delivered by cesarean section (subjecting the mother to increased morbidity) add to the complexities and challenges of the case. We report a rare case of a massive congenital brain tumor diagnosed prenatally on ultrasound. Because of the poor prognosis and associated craniomegaly, pregnancy termination was contemplated at 28 weeks aiming at vaginal delivery, despite a high probability of an eventual cesarean delivery due to the associated macrocrania. Intrapartum second stage of labor was protracted due to nondescent of the large head; however, providentially there was timely skull rupture of the fetus facilitating a vaginal delivery. The cerebral tumor was confirmed at autopsy to be an immature teratoma. There were no other associated malformations. Ultrasound has emerged as major modality in prenatal diagnosis aiding the antenatal preparation of the prospective parents and the multidisciplinary team for the poor outcome. The knowledge gained and anticipated prognosis help immensely in planning the management, thereby avoiding subjecting the woman to cesarean section and its morbidity.
摘要先天性脑肿瘤极为罕见。其中畸胎瘤最为常见。它们占所有先天性脑瘤的三分之一。诊断晚,预后差,以及大多数通过剖宫产分娩(使母亲增加发病率)增加了病例的复杂性和挑战。我们报告一个罕见的病例巨大的先天性脑肿瘤诊断产前超声。由于预后不良和相关的颅骨肿大,尽管由于相关的大颅,最终极有可能剖宫产,但仍考虑在28周终止妊娠,目的是阴道分娩。产时第二产程因大头未下降而延长;然而,幸运的是,胎儿颅骨及时破裂,便于阴道分娩。脑部肿瘤经尸检证实为未成熟畸胎瘤。没有其他相关畸形。超声已经成为产前诊断的主要方式,帮助准父母和多学科团队为不良结果做好产前准备。所获得的知识和预期的预后有助于极大地规划管理,从而避免使妇女接受剖宫产及其发病率。
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引用次数: 0
Hemolytic Disease of the Fetus and Newborn: Understanding the Testing Needed to Confirm the Identity of the Causative Antibody 胎儿和新生儿溶血性疾病:了解确认致病抗体身份所需的检测
Pub Date : 2023-10-10 DOI: 10.1055/s-0043-1771524
Jeremy Jacobs, Elizabeth Abels
A recent article by Beck et al[1] contributes to our understanding of hemolytic disease of the fetus and newborn (HDFN) mediated by antibodies against non-Rhesus blood group antigen systems. However, there are critical methodological and reporting errors that preclude the ability to draw the conclusions asserted by the authors. First, the authors provide no compelling evidence that the antibody causing the fetal anemia is due to anti-M other than a positive indirect antiglobulin test (IAT) for anti-M in maternal plasma and a coincidentally positive direct antiglobulin test (DAT) on neonatal cells. The authors provide no information regarding plasma studies in the newborn, elution studies, low-incidence antibody testing, or newborn M antigen typing. A positive newborn DAT is nondiagnostic and requires further evaluation, as even a negative maternal IAT does not preclude the possibility of HDFN to a low-incidence maternal alloantibody.[2] Further, contemporary and historical literature of larger case series found that in HDFN caused by anti-M the neonatal DAT is more frequently negative than positive.[2] [3] [4] Therefore, the positive DAT cited by Beck et al could theoretically lower one's suspicion for the cause of HDFN being solely due to anti-M. In addition, when discussing any case of HDFN, but especially with anti-M where the antibody's isotype and reacting temperature can be in question, the testing methods including platform technology, temperature, and enhancement media are vital to the discussion.[5] Beck et al provide no information regarding the antibody identification or titer techniques used in the maternal or neonatal testing nor do the authors provide methodological description of the maternal breast milk testing. Though this case could be an important addition to the growing body of evidence supporting anti-M as a cause of HDFN, further investigation and reporting are required to definitively establish the conclusions proclaimed by the authors.
Beck等人[1]最近发表的一篇文章有助于我们了解针对非恒河猴血型抗原系统的抗体介导的胎儿和新生儿溶血病(hddn)。然而,有关键的方法和报告错误,排除了得出作者断言的结论的能力。首先,作者没有提供令人信服的证据表明,导致胎儿贫血的抗体是由抗m引起的,除了母体血浆中抗m的间接抗球蛋白试验(IAT)阳性和新生儿细胞的直接抗球蛋白试验(DAT)恰好阳性。作者没有提供关于新生儿血浆研究、洗脱研究、低发病率抗体检测或新生儿M抗原分型的信息。新生儿DAT阳性是非诊断性的,需要进一步评估,因为即使母体IAT阴性也不能排除hdn感染低发病率母体同种异体抗体的可能性。[2]此外,当代和历史文献的更大的病例系列发现,在抗- m引起的HDFN中,新生儿DAT阴性多于阳性。[2][3][4]因此,Beck等人引用的阳性DAT理论上可以降低人们对hdf仅由anti-M引起的怀疑。此外,在讨论任何HDFN病例时,特别是在抗体的同型和反应温度存在问题的anti-M时,包括平台技术、温度和增强介质在内的测试方法对讨论至关重要。[5]Beck等人没有提供关于母体或新生儿检测中使用的抗体鉴定或滴度技术的信息,作者也没有提供母体母乳检测的方法学描述。虽然这一病例可能是支持抗m抗体是hdn病因的证据的重要补充,但需要进一步的调查和报告才能明确确立作者所宣布的结论。
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引用次数: 0
Fetal Autopsy—A Game Changer! 胎儿尸检--游戏规则的改变者!
IF 0.2 Pub Date : 2023-09-01 DOI: 10.1055/s-0043-1776056
R. Elayedatt, V. Krishnan, Vidya Chandraprabha
Abstract Fetal autopsy is one of the most useful investigations that can change or significantly add to the clinical diagnosis despite a prenatal ultrasonographic diagnosis of a fetal abnormality. It is often required to determine the cause of intrauterine death or miscarriages, provide recurrence risk, and is known to alter the final diagnosis and genetic counseling in nearly half of the cases. This article reviews the role of fetal autopsy and discusses its contributory role in confirming the diagnosis and its usefulness in the genetic counseling of cases with risk of recurrence in future pregnancies.
摘要 胎儿尸检是最有用的检查之一,尽管产前超声诊断胎儿畸形,但胎儿尸检可改变或显著增加临床诊断。胎儿尸检通常用于确定胎儿宫内死亡或流产的原因,提供复发风险,并在近一半的病例中改变最终诊断和遗传咨询。本文回顾了胎儿尸检的作用,并讨论了它在确诊中的作用,以及它在对有复发风险的病例进行遗传咨询时的作用。
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引用次数: 0
Final Commentary on Anti-M Alloimmunization Following Term Stillbirth: A Case Report and Review of the Literature 关于足月死胎后抗 M 免疫的最终评论:病例报告与文献综述
IF 0.2 Pub Date : 2023-09-01 DOI: 10.1055/s-0043-1777800
Ashok Khurana, Mohd Faisal Khan
{"title":"Final Commentary on Anti-M Alloimmunization Following Term Stillbirth: A Case Report and Review of the Literature","authors":"Ashok Khurana, Mohd Faisal Khan","doi":"10.1055/s-0043-1777800","DOIUrl":"https://doi.org/10.1055/s-0043-1777800","url":null,"abstract":"","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139345978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aberrant Right Subclavian Artery—To Test or Not to Test, That Is the Question 右锁骨下动脉异常--检测还是不检测,这是一个问题
IF 0.2 Pub Date : 2023-09-01 DOI: 10.1055/s-0043-1776057
Gurnihal Chawla, B. Balakrishnan, Meenu Batra, Afshana Sidhik, Aditi Laad, S. N. Patil, Lipi Madhusoodhanan, K. K. Gopinathan
Abstract Objectives  This study aimed to determine if isolated fetal aberrant right subclavian artery (ARSA) is associated with an increased risk of chromosomal abnormalities and to see whether or not invasive testing should be considered. Methods  We conducted a retrospective study from January 2017 to December 2021. All prenatally diagnosed cases of ARSA were reviewed and their clinical data were collected. Amniocentesis was advised after genetic counseling in every case of ARSA. Results  One hundred and thirteen patients of ARSA were diagnosed at 21.2 ± 2.4 weeks of gestational age. Eighty-eight fetuses had isolated ARSA. Eighty-three patients underwent amniocentesis. Of those, six had Down syndrome and one had Turner syndrome. Four fetuses with genetic abnormalities had no other ultrasound findings; however, the association of isolated ARSA with chromosomal abnormalities was not statistically significant ( p -value = 0.998). Ten patients underwent termination of pregnancy including seven with chromosomal abnormalities and three fetuses with other structural anomalies. The mean age of postnatal follow-up was 2.2 years. Mild respiratory distress was seen in one fetus. No neonatal intensive care unit admissions were present. Conclusion  Isolated ARSA by itself does not significantly increase the risk of associated chromosomal abnormalities. The detection of fetal ARSA, however, mandates a detailed fetal ultrasound. Invasive testing can be deferred in cases of isolated ARSA. Larger prospective studies are required to see the role of cell-free DNA as an optimal alternative option.
摘要 目的 本研究旨在确定胎儿孤立性右侧锁骨下动脉异常(ARSA)是否与染色体异常风险增加有关,并探讨是否应考虑进行侵入性检测。方法 我们从 2017 年 1 月至 2021 年 12 月进行了一项回顾性研究。我们回顾了所有产前诊断为 ARSA 的病例,并收集了他们的临床数据。在对每例ARSA患者进行遗传咨询后,均建议进行羊膜腔穿刺术。结果 113例ARSA患者在胎龄(21.2 ± 2.4)周时被确诊。88 名胎儿患有孤立性 ARSA。83 名患者接受了羊膜穿刺术。其中,6 人患有唐氏综合征,1 人患有特纳综合征。有四个基因异常的胎儿没有其他超声波检查结果;然而,孤立的ARSA与染色体异常的关联并无统计学意义(P值=0.998)。10 名患者接受了终止妊娠,包括 7 名染色体异常胎儿和 3 名其他结构异常胎儿。产后随访的平均年龄为 2.2 年。一名胎儿出现轻度呼吸窘迫。无新生儿重症监护室住院病例。结论 孤立的 ARSA 本身并不会显著增加相关染色体异常的风险。然而,检测胎儿 ARSA 需要进行详细的胎儿超声检查。对于孤立的 ARSA,可以推迟进行侵入性检查。要了解无细胞 DNA 作为最佳替代选择的作用,还需要进行更大规模的前瞻性研究。
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引用次数: 0
Fetal Abdominal Cyst as a Stage of Meconium Peritonitis after Fetoscopic Laser Photocoagulation 胎儿腹腔镜激光光凝术后胎儿腹腔囊肿是蜕膜性腹膜炎的一个阶段
IF 0.2 Pub Date : 2023-09-01 DOI: 10.1055/s-0043-1776322
Iryna Tsikhanenka, Maxim Beluga, Venera Semenchuk, Ivan Kurlovich, Ella Marahovskaya
Abstract Fetal meconium peritonitis (FMP) is a rare form of sterile chemical peritonitis occurring in utero due to the perforation of the fetal intestine, sometimes after fetoscopic laser photocoagulation (FLP) in twin-to-twin transfusion syndrome, with the broad spectrum of prenatal ultrasound manifestations including abdominal cyst. We report a unique presentation of FMP following FLP with ascites, pseudocyst formation, and the cyst resolving probably of a fistula formation. This case report highlights unusual FMP development and gives a novel clue to antenatal diagnosis and management.
摘要 胎儿蜕膜性腹膜炎(FMP)是一种罕见的无菌化学性腹膜炎,由于胎儿肠道穿孔而发生在子宫内,有时发生在双胎输血综合征的胎儿激光光凝术(FLP)之后,产前超声表现包括腹腔囊肿。我们报告了一个独特的 FMP 病例,该病例在 FLP 术后出现腹水、假性囊肿形成,囊肿消退后可能形成瘘管。本病例报告强调了 FMP 的异常发展,并为产前诊断和管理提供了新的线索。
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引用次数: 0
Fetal Aorta-Portal Vein-Umbilical Vein Anastomosis: Prenatal Diagnosis and Brief Review of Literature 胎儿主动脉门静脉脐静脉吻合术的产前诊断及文献复习
IF 0.2 Pub Date : 2023-06-01 DOI: 10.1055/s-0043-57019
Hitanshu R. Bhatt, G. Nagraj
Abstract Congenital hepatic arteriovenous fistulae (AVFs) are rare and occur in less than 1:100,000 live births and are linked with poor perinatal outcome. Hepatic arteriovenous malformation can be of three types, out of which we present a case of hepatic AVF with AV connection in a case of primigravida at 26 weeks gestation presented with fetal growth restriction and Doppler changes.
摘要先天性肝动静脉瘘(AVF)是罕见的,发生在低于1:100000的活产中,并与不良的围产期结局有关。肝动静脉畸形可分为三种类型,其中我们报告了一例妊娠26周时出现胎儿生长受限和多普勒变化的初产妇的肝动静脉瘘伴AV连接。
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引用次数: 0
期刊
Journal of Fetal Medicine
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