Complete hydatidiform mole

完全葡萄胎
  • 文章类型: Journal Article
    葡萄胎,包括完全和部分痣,构成妊娠滋养细胞疾病的一个子集,其特征是异常受精导致绒毛积水和滋养细胞增生,有或没有胚胎发育。这涉及染色体异常,一个或两个精子使空卵母细胞受精(完全葡萄胎(CHM);大多数为46,XX)或两个精子使一个卵母细胞受精(部分葡萄胎(PHM);大多数为69,XXY)。值得注意的是,反复发生与母源效应基因如NLRP7(染色体19q13.4)和KHDC3L(染色体6q1)的异常基因组印记相关.不断努力加强鉴定方法已经导致生长特异性标记的鉴定,包括p57(细胞周期蛋白依赖性激酶抑制剂1C;CDKN1C),这显示了在PHM中绒毛细胞滋养层和绒毛基质细胞的完整核表达和在CHM中的表达丧失。葡萄胎的治疗包括扩张和刮宫以清除磨牙妊娠的子宫,然后监测人绒毛膜促性腺激素(HCG)水平,以确认疾病的消退并排除任何妊娠滋养细胞瘤的发展。在这次审查中,我们提供了关于葡萄胎的现有文献的概要,他们的诊断,组织病理学特征,和管理。
    Hydatidiform moles, including both complete and partial moles, constitute a subset of gestational trophoblastic diseases characterized by abnormal fertilization resulting in villous hydrops and trophoblastic hyperplasia with or without embryonic development. This involves chromosomal abnormalities, where one or two sperms fertilize an empty oocyte (complete hydatidiform mole (CHM); mostly 46,XX) or two sperms fertilize one oocyte (partial hydatidiform mole (PHM); mostly 69,XXY). Notably, recurrent occurrences are associated with abnormal genomic imprinting of maternal effect genes such as NLRP7 (chromosome 19q13.4) and KHDC3L (chromosome 6q1). Ongoing efforts to enhance identification methods have led to the identification of growth-specific markers, including p57 (cyclin-dependent kinase inhibitor 1C; CDKN1C), which shows intact nuclear expression in the villous cytotrophoblast and villous stromal cells in PHMs and loss of expression in CHMs. Treatment of hydatidiform moles includes dilation and curettage for uterine evacuation of the molar pregnancy followed by surveillance of human chorionic gonadotropin (HCG) levels to confirm disease resolution and rule out the development of any gestational trophoblastic neoplasia. In this review, we provide a synopsis of the existing literature on hydatidiform moles, their diagnosis, histopathologic features, and management.
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  • 文章类型: Case Reports
    患有完全葡萄胎和共存胎儿(CMCF)的孕妇很少见,但由于辅助生殖技术的普及率上升而越来越普遍。它们经常与不良产科结局相关,为妇女提供终止妊娠或继续妊娠的挑战,使其面临母婴发病率和胎儿死亡率的风险。该报告显示了两例CMCF妊娠,具有良好的母婴结局,包括产前磨牙组织的自发消退。这有助于咨询被诊断患有这种罕见且经常病态的妇女,以考虑如何继续怀孕。
    Pregnancies with a complete hydatidiform mole and co-existing fetus (CMCF) are rare, but increasingly common due to the rising prevalence of assisted reproductive technology. They are frequently associated with adverse obstetric outcomes, providing women with the challenge of pregnancy termination or continuing the pregnancy at the risk of maternal-fetal morbidity and fetal mortality. This report demonstrates two cases of CMCF pregnancy with excellent maternal-fetal outcomes, including spontaneous resolution of the molar tissue antenatally. It is helpful in counselling women who are diagnosed with this rare and frequently morbid condition in considering how to proceed with their pregnancy.
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  • 文章类型: Case Reports
    磨牙后妊娠滋养细胞瘤(pGTN)在约15%至20%的完全葡萄胎(CMH)中发展。通常,pGTN在摩尔疏散后基于hCG监测进行诊断。迄今为止,没有关于pGTN从CHM开发的速度有多快的详细信息。然而,CHM和pGTN的并发非常罕见。
    一名29岁妇女因阴道不规则出血和血清hCG水平升高而就诊于妇科。超声和MRI均显示子宫腔和子宫肌层不均匀肿块。进行抽吸排空,对排空的标本进行组织学检查,确认完全葡萄胎。重复超声检查显示,撤离后一周,子宫肌层质量明显增大。然后诊断预后评分为4分的pGTN,并实施多药化疗方案,预后良好。
    在极少数情况下,CMH可以疾速进步为pGTN。影像学检查与hCG监测相结合似乎在指导特定病情的及时诊断和治疗中起着至关重要的作用。低风险妊娠滋养细胞肿瘤(GTN)应根据个人情况进行分层处理。
    UNASSIGNED: Post-molar gestational trophoblastic neoplasia (pGTN) develops in about 15% to 20% of complete hydatidiform mole (CMH). Commonly, pGTN is diagnosed based on hCG monitoring following the molar evacuation. To date, no detailed information is available on how fast can pGTN develop from CHM. However, the concurrence of CHM and pGTN is extremely rare.
    UNASSIGNED: A 29-year-old woman presented to the gynecology department with irregular vaginal bleeding and an elevated hCG serum level. Both ultrasound and MRI showed heterogeneous mass in uterine cavity and myometrium. Suction evacuation was performed and histologic examination of the evacuated specimen confirmed complete hydatidiform mole. Repeated ultrasound showed significant enlargement of the myometrium mass one week after the evacuation. pGTN with prognostic score of 4 was then diagnosed and multi-agent chemotherapy regimen implemented with a good prognosis.
    UNASSIGNED: In rare cases, CMH can rapidly progress into pGTN. Imaging in combination with hCG surveillance seems to play a vital role guiding timely diagnosis and treatment in the specific condition. Low-risk gestational trophoblastic neoplasia (GTN) should be managed stratified according to the individual situation.
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  • 文章类型: Case Reports
    摩尔妊娠是最常见的妊娠滋养细胞疾病。表现为阴道出血,伴有高水平的β-人绒毛膜促性腺激素(β-HCG)。此病例旨在强调将妊娠滋养细胞疾病作为潜在诊断及其严重并发症的重要性。
    一名24岁女性出现呕吐,恶心,也没有阴道出血的主诉.实验室检查表明甲状腺功能亢进是一种并发症,需要进行具有挑战性的术前预防性管理。最初,病人接受了抽吸和刮宫,但以后必须进行全子宫切除术.组织学研究以完全葡萄胎的诊断得出结论。术后随访评估显示高血压值,患者被指定接受进一步的心脏病学评估.
    虽然不常见,磨牙妊娠的并发症包括贫血,严重的心脏窘迫,和甲状腺功能亢进.滋养细胞甲状腺功能亢进是由于分子交叉反应性而导致的β-HCG水平极高的结果。历史,临床检查,还有超声波,除了测量β-HCG水平,都可以帮助诊断磨牙怀孕,但最终的诊断是基于组织病理学和核型研究。管理程序包括膨胀,抽吸和刮宫,子宫切除术.治疗取决于病人的年龄,对未来怀孕的渴望,和发生妊娠滋养细胞瘤的风险。建议进行连续β-HCG测量的随访,以监测可能的并发症。在磨牙妊娠手术之前,获得和维持甲状腺功能正常是挽救生命的程序。甲基咪唑,普萘洛尔,卢戈尔的碘,和氢化可的松都可以用于甲状腺风暴的预防性管理。
    UNASSIGNED: Molar pregnancy is the most common type of gestational trophoblastic disease. It manifests as vaginal bleeding, accompanied by high levels of β-human chorionic gonadotropin (β-HCG). This case aims to highlight the importance of considering gestational trophoblastic disease as a potential diagnosis and its serious complications.
    UNASSIGNED: A 24-year-old female presented with vomiting, nausea, and no complaint of vaginal bleeding. Laboratory tests indicated hyperthyroidism as a complication requiring challenging preoperative prophylactic management. Initially, the patient underwent suction and curettage, but a total hysterectomy had to be performed later. The histological study concluded with the diagnosis of a complete hydatidiform mole. Post-surgery follow-up evaluations revealed high blood pressure values, and the patient was appointed for further cardiology assessment.
    UNASSIGNED: Although uncommon, complications of a molar pregnancy include anaemia, severe cardiac distress, and hyperthyroidism. Trophoblastic Hyperthyroidism is a result of extremely high levels of β-HCG levels due to molecular cross-reactivity. History, clinical examination, and ultrasound, in addition to measuring β-HCG levels, could all help in diagnosing a molar pregnancy, but the definitive diagnosis is based on histopathology and a karyotype study. Management procedures include dilation, suction and curettage, and hysterectomy. The treatment depends on the patient\'s age, desire for future pregnancies, and risk of developing gestational trophoblastic neoplasia. A follow-up with serial β-HCG measurement is recommended to monitor possible complications. Attaining and maintaining euthyroidism is a life-saving procedure before molar pregnancy surgery. Methimazole, Propranolol, Lugol\'s iodine, and hydrocortisone can all be used in the prophylactic management of the thyroid storm.
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  • 文章类型: Case Reports
    完全葡萄胎与胎儿共存(CHMCF)很少见,由于数据有限,诊断具有挑战性。这里,我们介绍了1例患者在妊娠中期接受非侵入性产前检测(NIPT),导致"可能的磨牙妊娠".随后的超声证实了胎盘的囊性外观部分。22周时,病人分娩了一个死亡胎儿和两个胎盘。病理符合CHMCF。这种情况是第一个显示在超声鉴定之前对具有基于单核苷酸多态性(SNP)的NIPT的CHMCF进行初步检测的病例。我们的案例表明,使用基于SNP的NIPT作为一种替代的非侵入性方法来指导具有这种诊断的患者的共同决策和临床管理。
    Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in \"likely molar pregnancy\" in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method to guide shared decision-making and clinical management for patients with this diagnosis.
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  • 文章类型: Case Reports
    具有完全葡萄胎和共存胎儿(CHMCF)的双胎妊娠是一种极为罕见的疾病,发生率约为20,000-100,000妊娠中的1。可以通过产前超声检查和母体血清β-人绒毛膜促性腺激素(BhCG)水平升高来检测。在这里,作者报告了1例CHMCF,在没有术前知识的情况下,通过病理检查偶然诊断。那个41岁的女人,由于早产而转移,在妊娠28+5周时通过剖宫产分娩了一名女性婴儿。临床上,外科医生怀疑胎盘在手术区域植入,胎盘标本送到病理科。粗略检查,局灶性囊泡和囊性病变与正常胎盘组织分开鉴定.病理诊断为CHMCF,并考虑到最初怀疑胎盘植入的事实,不排除侵袭性葡萄胎。放射学检查后,检测到肺转移性病变,甲氨蝶呤分6个周期给药,每2周一次。作者介绍了该例伴有肺转移的CHMCF患者的临床病理特征。与文献综述的发现相比,并强调细致的病理检查。
    Twin pregnancy with a complete hydatidiform mole and coexisting fetus (CHMCF) is an exceedingly rare condition with an incidence of about 1 in 20,000-100,000 pregnancies. It can be detected by prenatal ultrasonography and an elevated maternal serum beta-human chorionic gonadotropin (BhCG) level. Herein, the author reports a case of CHMCF which was incidentally diagnosed through pathologic examination without preoperative knowledge. The 41-year-old woman, transferred due to preterm labor, delivered a female baby by cesarean section at 28 + 5 weeks of gestation. Clinically, the surgeon suspected placenta accreta on the surgical field, and the placental specimen was sent to the pathology department. On gross examination, focal vesicular and cystic lesions were identified separately from the normal-looking placental tissue. The pathologic diagnosis was CHMCF and considering the fact that placenta accreta was originally suspected, invasive hydatidiform mole was not ruled out. After radiologic work-up, metastatic lung lesions were detected, and methotrexate was administered in six cycles at intervals of every two weeks. The author presents the clinicopathological features of this unexpected CHMCF case accompanied by pulmonary metastasis, compares to literature review findings, and emphasizes the meticulous pathologic examination.
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  • 文章类型: Case Reports
    葡萄胎(完全和部分),侵袭性痣,绒毛膜癌,胎盘部位滋养细胞疾病,和上皮样滋养细胞肿瘤构成良性和恶性妊娠滋养细胞疾病的频谱[1]侵袭性葡萄胎,绒毛膜癌,胎盘部位滋养细胞疾病,上皮样滋养细胞肿瘤也属于妊娠滋养细胞肿瘤。[1]磨牙妊娠的患病率在全球范围内差异很大,据报道,印度尼西亚每1000例妊娠中有12例。印度,在日本和中国,每千例怀孕1至2例;在北美和欧洲,每千例怀孕0.5至1例。[1]异位妊娠,主要是输卵管,是孕早期孕产妇死亡的主要原因。[2]异位妊娠的诊断是临床体征和症状的组合分析;β-hCG趋势;和超声检查。[2]由于异位妊娠导致孕产妇死亡,诊断试验在可靠的术前诊断中的决定性作用是至关重要的.[2]尽管超声在诊断异位妊娠中显示出高敏感性和特异性,已知超声识别存在不一致。[2]特别是,超声检查存在局限性,例如指定不常见的宫外表现的确切位置以及识别具有非典型特征的异位妊娠。[2]主要已知为胎盘位置的磨牙妊娠具有已知但罕见的宫外增生潜力。[3]在科学文献中,异位磨牙妊娠很少见,仅有一百多例报道。[4]我们的病例描述了这种不常见的实体和磁共振成像在表征妊娠块的诊断性能方面的优越性。考虑到需要区分异位磨牙妊娠与没有磨牙组织的异位妊娠,这是相关的,因为以前非典型形式的恶性肿瘤的可能性类似于子宫内磨牙妊娠。[4].
    Hydatidiform mole (complete and partial), invasive mole, choriocarcinoma, placental site trophoblastic disease, and epithelioid trophoblastic tumour constitute the spectrum of benign and malignant gestational trophoblastic disease[1] Invasive mole, choriocarcinoma, placental site trophoblastic disease, and epithelioid trophoblastic tumour also classify under gestational trophoblastic neoplasia.[1] The prevalence of molar pregnancy shows great worldwide variation with reported rates of 12 per 1,000 pregnancies in Indonesia, India, and Turkey; one to two per 1,000 pregnancies in Japan and China; and 0.5 to one per 1,000 pregnancies in North America and Europe.[1] Ectopic pregnancy, which is primarily tubal, is the leading cause of first trimester maternal mortality.[2] Diagnosis of ectopic pregnancy is a combinatorial analysis of clinical signs and symptoms; beta-hCG trends; and ultrasonography.[2] Since ectopic gestations cause maternal deaths, the decisive role of the diagnostic test employed measured by its discriminative potential for a reliable preoperative diagnosis is paramount.[2] Although ultrasonography demonstrates high sensitivity and specificity in diagnosing ectopic gestations, inconsistencies in sonographic identification have been known to occur.[2] Particularly, ultrasonography suffers from limitations such as specifying the exact location of infrequent extrauterine presentations and identifying ectopic gestations with atypical features.[2] Molar pregnancies that are largely known to be placental in location have a known but rare potential for extrauterine proliferation.[3] Ectopic molar gestations are rare with only more than a hundred reported cases in scientific literature.[4] Our case delineates this uncommon entity and the superiority of magnetic resonance imaging in terms of diagnostic performance in characterizing the gestational mass over ultrasonography. This is pertinent considering the need to differentiate an ectopic molar pregnancy from an ectopic pregnancy without molar tissue because the potential for malignancy in the former atypical form is akin to that of an intrauterine molar pregnancy.[4].
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  • 文章类型: Case Reports
    未经证实:双胎妊娠结合完整的痣和正常的胎儿妊娠以及自身健康的滋养层是一种罕见的实体。由于三倍体胎儿,部分磨牙妊娠几乎总是以流产告终。
    方法:我们报告一例43岁女性患者,因妊娠第20周出血入院。盆腔超声显示完整的葡萄胎和正常的胎儿妊娠。在与家人协商后,决定以医学方式终止妊娠。胎盘检查和组织学研究证实了与正常胎儿相关的完全葡萄胎的诊断。进化是平稳的。
    未经证实:双胎妊娠合并完全痣和正常胎儿妊娠以及自身健康的滋养细胞是一种罕见的实体,不应误诊。在治疗态度方面仍然没有共识,困境仍然存在,在对所有风险进行彻底解释后,决定应始终包括这对夫妇。
    结论:我们的案例重申,为了成功控制这种罕见但危及生命的疾病,异位妊娠应包括在任何出现持续性腹痛的妊娠妇女的鉴别诊断中。异常出血和/或子宫外包块。
    UNASSIGNED: Twin pregnancy combining a complete mole and a normal fetal pregnancy with its own healthy trophoblast is a rare entity. A partial molar pregnancy almost always ends in miscarriage due to a triploid fetus.
    METHODS: We report the case of a 43-year-old female patient admitted for bleeding during the 20th week of pregnancy. Pelvic ultrasound showed the combination of a complete hydatidiform mole and a normal fetal pregnancy. The decision to medically terminate the pregnancy was taken after consultation with the family. Examination of the placenta and histological study confirmed the diagnosis of complete hydatidiform mole associated with a normal fetus. The evolution was uneventful.
    UNASSIGNED: Twin pregnancy combining a complete mole and a normal fetal pregnancy with its own healthy trophoblast is a rare entity that should not be misdiagnosed. There is still no consensus in terms of therapeutic attitude, the dilemma remains and the decision should always include the couple after a thorough explanation of all the risks.
    CONCLUSIONS: Our case reaffirms that to successfully manage this rare yet life-threatening condition, heterotopic pregnancy should be included in the differential diagnosis for any gravid women presenting with persistent abdominal pain, abnormal bleeding and/or extrauterine mass.
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  • 文章类型: Journal Article
    未经批准:这里,我们讨论了甲氨蝶呤治疗一例罕见的完全性葡萄胎合并胎儿(CHMCF)的新方法.CHMCF的管理是有争议的,甲氨蝶呤可能是一种解决方案。甲氨蝶呤的CHMCF管理需要更多研究,尤其是它的副作用,安全剂量,和允许的怀孕时间。
    方法:一名23岁的叙利亚患者因阴道出血来到我院。该患者被诊断为完全葡萄胎与胎儿共存。母亲无并发症,但B-HCG升高。经过咨询,我们决定继续使用甲氨蝶呤妊娠以控制B-HCG水平.尽管婴儿患有法洛四联症,但结果良好。
    UNASSIGNED:在我们的例子中,除B-hCG水平升高外,患者情况稳定,所以我们考虑用甲氨蝶呤控制它.另一方面,甲氨蝶呤被认为是人类致畸剂。1960年代开始出现病例报告和怀孕期间接触它的病例系列。敏感期建议为受孕后6~8周。在和病人讨论了选择之后,她选择继续妊娠,并接受甲氨蝶呤暴露于控制B-hCG水平,尽管存在风险.
    结论:应更多地研究甲氨蝶呤在安全剂量范围内的使用情况,以确定其在我们这样的情况下带来的益处和风险。
    UNASSIGNED: Here, we discuss novel management with methotrexate for the rare case of a complete hydatidiform mole with a co-existing fetus (CHMCF). The management of CHMCF is controversial, and methotrexate might represent a solution. CHMCF management with methotrexate needs more study, especially its side effects, safe dosage, and the permissible period of pregnancy.
    METHODS: A 23-year-old Syrian primigravida came to our hospital with vaginal bleeding. The patient was diagnosed with a complete hydatidiform mole with a co-existing fetus. The mother had no complications but elevated B-HCG. After counseling, the decision was made to continue pregnancy with methotrexate to control B-HCG levels. The outcome was favorable though the infant had tetralogy of Fallot.
    UNASSIGNED: In our case, the patient was stable except for the elevation of B-hCG levels, so we considered methotrexate to control it. On the other hand, methotrexate is considered a human teratogen. Case reports and case series of exposure to it during pregnancy began appearing in the 1960s. The sensitive period is suggested to be 6 to 8 weeks after conception. After discussing the choices with the patient, she elected to continue pregnancy and accepted methotrexate exposure to control B-hCG levels despite its risks.
    CONCLUSIONS: Methotrexate usage within a safe dosage should be studied more to determine the benefits and risks it carries in cases such as ours.
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  • 文章类型: Journal Article
    患有完全葡萄胎和共存胎儿(CHMCF)的双胎妊娠极为罕见,仅由少数已发布的系列和病例报告描述。关于CHMCF的大多数文献检查了与妊娠滋养细胞肿瘤(GTN)风险增加有关的产前护理和随访。目前,很少有报告详细阐述了诊断过程和鉴别诊断,特别是在GTN风险分层的最新分子进展的背景下。这里,我们描述了第一个已知的CHMCF伴腹裂伴妊娠35周时分娩的病例.本报告旨在回顾产前和产后的鉴别诊断,并讨论有关辅助研究在妊娠滋养细胞疾病诊断中的重要性的最新进展。
    Twin pregnancy with a complete hydatidiform mole and a coexisting fetus (CHMCF) is an extremely rare occurrence, described only by a handful of published series and cases reports. The majority of the literature on CHMCF examines prenatal care and follow-up in relation to the increased risk of gestational trophoblastic neoplasia (GTN). At present, few reports elaborate on the diagnostic process and differential diagnosis, especially in the context of recent molecular advances in risk stratification for GTN. Here, we describe the first known case of a CHMCF with gastroschisis with liveborn delivery at 35 weeks gestation. This report aims to review the pre- and postnatal differential diagnosis and discuss recent updates on the importance of ancillary studies in the diagnosis of gestational trophoblastic disease.
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