Fetal Diseases

胎儿疾病
  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    胎儿心包畸胎瘤罕见。他们表现为心包积液和积液。明确的治疗方法是产后切除肿瘤。由于罕见,确切的产前管理尚不清楚。我们介绍一例胎儿心包畸胎瘤伴心包填塞。31周时进行的心包穿刺术显著缓解了静脉压迫,导致水肿的解决和延长胎龄的确定性管理。
    Fetal pericardial teratomas are rare. They present with pericardial effusion and hydrops. The definitive management is postnatal resection of the tumor. The exact antenatal management is not known due to its rarity. We present a case of fetal pericardial teratoma with pericardial tamponade. Pericardiocentesis performed at 31 weeks significantly relieved the venous compression, leading to resolution of hydrops and prolonging the gestational age for the definitive management.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    背景:我们提出了羊水过多的两种遗传原因,由于其稀有性和复杂性,因此难以诊断。鉴于其严重影响,当产科医生考虑妊娠晚期羊水过多的鉴别诊断时,我们希望强调这些罕见的遗传状况.
    方法:患者1是一名34岁的亚洲女性,在妊娠28周时被诊断为羊水过多。孕早期测试,胎儿异常扫描,宫内感染筛查正常。随后的产前超声扫描显示巨大的舌头,怀疑Beckwith-Wiedemann综合征.染色体微阵列分析显示女性特征,没有病理拷贝数变异。患者在怀孕期间进行了两次羊膜减压术。该患者在妊娠34周时早产,但当选为紧急剖腹产。出生后,婴儿的胸部呈钟形,衣架排骨,低张力,腹胀,和面部畸形提示Kagami-Ogata综合征。患者2是一名30岁的亚洲女性,在妊娠30周时被诊断为羊水过多。她进行了高风险的孕早期筛查,但拒绝进行侵入性检测;非侵入性产前检测风险较低。超声检查显示大体胎儿具有1级回声肠,但没有其他异常。宫内感染筛查阴性,也没有胎儿贫血的超声表现.她在37+3周时自发性胎膜破裂,但随后根据病理性心脏造影通过剖腹产分娩。注意到婴儿有吸气喘鸣,低张力,低设定的耳朵,双侧脚趾多指。进一步的基因检测揭示了一个具有GLI3基因致病变异的女性特征,确认诊断为Greig头型多指综合征。
    结论:这些病例说明了在鉴别诊断中考虑羊水过多的罕见遗传原因的重要性。特别是在20周的结构扫描中胎儿异常不明显时。我们想提高对这些罕见疾病的认识,由于高度怀疑可以进行适当的咨询,产前检查,并及时转诊给儿科医生和遗传学家。早期识别和诊断允许在多学科团队管理的三级中心规划围产期护理和分娩。
    BACKGROUND: We present two genetic causes of polyhydramnios that were challenging to diagnose due to their rarity and complexity. In view of the severe implications, we wish to highlight these rare genetic conditions when obstetricians consider differential diagnoses of polyhydramnios in the third trimester.
    METHODS: Patient 1 is a 34-year-old Asian woman who was diagnosed with polyhydramnios at 28 weeks\' gestation. First trimester testing, fetal anomaly scan, and intrauterine infection screen were normal. Subsequent antenatal ultrasound scans revealed macroglossia, raising the suspicion for Beckwith-Wiedemann syndrome. Chromosomal microarray analysis revealed a female profile with no pathological copy number variants. The patient underwent amnioreduction twice in the pregnancy. The patient presented in preterm labor at 34 weeks\' gestation but elected for an emergency caesarean section. Postnatally, the baby was noted to have a bell-shaped thorax, coat hanger ribs, hypotonia, abdominal distension, and facial dysmorphisms suggestive of Kagami-Ogata syndrome. Patient 2 is a 30-year-old Asian woman who was diagnosed with polyhydramnios at 30 weeks\' gestation. She had a high-risk first trimester screen but declined invasive testing; non-invasive prenatal testing was low risk. Ultrasound examination revealed a macrosomic fetus with grade 1 echogenic bowels but no other abnormalities. Intrauterine infection screen was negative, and there was no sonographic evidence of fetal anemia. She had spontaneous rupture of membranes at 37 + 3 weeks but subsequently delivered by caesarean section in view of pathological cardiotocography. The baby was noted to have inspiratory stridor, hypotonia, low-set ears, and bilateral toe polysyndactyly. Further genetic testing revealed a female profile with a pathogenic variant of the GLI3 gene, confirming a diagnosis of Greig cephalopolysyndactyly syndrome.
    CONCLUSIONS: These cases illustrate the importance of considering rare genetic causes of polyhydramnios in the differential diagnosis, particularly when fetal anomalies are not apparent at the 20-week structural scan. We would like to raise awareness for these rare conditions, as a high index of suspicion enables appropriate counseling, prenatal testing, and timely referral to pediatricians and geneticists. Early identification and diagnosis allow planning of perinatal care and birth in a tertiary center managed by a multidisciplinary team.
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  • 文章类型: Case Reports
    引言胎儿脑室增宽是妊娠中期最常见的中枢神经系统(CNS)病变之一,其发生率为0.3-0.5/1000。严重的胎儿脑室增宽(SVM)可能需要宫内干预。大多数此类干预措施都是通过超声引导插入猪尾导管进行的,可悲的是,它经常被阻塞或迁移。病例介绍我们的病例报告提出了由于导水管狭窄导致的孤立性严重胎儿脑积水(IVSM)通过经典子宫切开术进行脑室羊膜瓣植入(VAVI)的可能性。患者在24+4/7GA时按照类似于OFSMOMS标准进行手术,初始侧脑室尺寸为22.5毫米。由于PPROM,一名女性新生儿在31+1/7GA时通过选择性剖宫产分娩(Apgar10\'8pts。,出生体重1600克),需要CPAP,以及由于感染和侧脑室狭窄而导致的引流系统的移除。Evans指数(EI)逐渐增加,高压脑积水的临床症状需要10天后进行脑室-腹腔分流术(VPS)植入。新生儿在28天后出院,患有稳定的脑积水(EI:0.59-0.6),在良好的临床条件。随访7年并发癫痫,VPS分流感染,运动和智力功能延迟(轻度至中度),和非典型自闭症的症状,该表型可能与ZEB2基因的变异有关。结论宫内VAVI是一种一步法,可有效引流CFS。由于早产和引流系统感染,该方法的局限性仍然是并发症。
    BACKGROUND: Fetal ventriculomegaly is one of the most commonly diagnosed central nervous system pathologies of the second trimester, occurring with a frequency of 0.3-0.5/1,000 births. Severe fetal ventriculomegaly (SVM) may necessitate intrauterine intervention. Most such interventions have been made percutaneously with ultrasound guidance insertion of a pigtail catheter, which sadly often became obstructed or migrated.
    METHODS: Our case report presents the possibility of ventriculo-amniotic valve implantation (VAVI) by classic hysterotomy in isolated severe fetal hydrocephalus (IVSM) due to aqueductal stenosis. The patient was operated on similarly to open fetal surgery MOMS criteria at 24+4/7 GA, with an initial lateral ventricular dimension of 22.5 mm. A female newborn was delivered by elective cesarean section at 31+1/7 GA due to PPROM (Apgar 10\' 8 points, birth weight 1,600 g), required CPAP, and removal of the drainage system due to infection and narrow lateral ventricles. Evans index (EI) gradual increase and clinical symptoms of high-pressure hydrocephalus after 10 days required a ventricle-peritoneal shunt (VPS) implantation. The newborn was discharged home after 28 days with stabile hydrocephalus (EI: 0.59-0.6), in good clinical condition. The 7-year follow-up was complicated by epilepsy, VPS shunt infections, delay in motor and intellectual functions (mild to moderate), and symptoms of atypical autism, the phenotype possibly related to a variant in ZEB2 gene.
    CONCLUSIONS: Intrauterine VAVI is a one-step procedure that is effective in draining CFS. The limitations of the method remain complications due to preterm labor and infection of the drainage system.
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  • 文章类型: Journal Article
    背景:我们的目的是在大型城市分娩中心确定产妇体重指数(BMI)是否与坏死性小肠结肠炎(NEC)相关。
    方法:这项单中心回顾性病例对照研究包括291例出生在新生儿重症监护病房(NICU)的33周胎龄以下的婴儿,为期10年。2期和3期NEC的病例以2个对照(n=194)与1个病例(n=97)的比例匹配。产妇BMI被归类为正常(≤24.9),超重(25-29.9)和肥胖(≥30)。采用卡方和逐步logistic回归进行分析。进行功效分析以确定样本大小是否足以检测关联。
    结果:逐步逻辑回归显示NEC与母亲肥胖之间没有关联。产妇高血压,先兆子痫,胎膜早破,母亲接触抗生素,胎盘早剥和妊娠期糖尿病与NEC无关。功效分析显示,在所分析的三组中,样本量足以检测NEC与母亲BMI的关联。在这项病例对照研究中,NEC与产妇出生时超重相关,但与分娩时肥胖无关.
    结论:我们的研究结果未显示NEC与母亲肥胖有显著关联。在我们的人口中,怀孕前和分娩时超重和肥胖母亲的百分比明显高于全国平均水平,这可能是揭示母亲肥胖与NEC之间任何关联的能力有限的原因。
    BACKGROUND: Our aim was to determine if maternal body mass index (BMI) is associated with necrotizing enterocolitis (NEC) in a large urban delivery center.
    METHODS: This single center retrospective case-control study included 291 infants under gestational age of 33 weeks admitted to the neonatal intensive care unit (NICU) during a 10-year period. Cases of stage 2 and 3 NEC were matched at a ratio of 2 controls (n = 194) to 1 case (n = 97). Maternal BMI was categorized as normal (≤24.9), overweight (25-29.9) and obese (≥30). Chi-square and stepwise logistic regression were used for analysis. A power analysis was performed to determine if sample size was sufficient to detect an association.
    RESULTS: Stepwise logistic regression demonstrated no association between NEC and maternal obesity. Maternal hypertension, pre-eclampsia, premature rupture of membranes, maternal exposure to antibiotics, placental abruption and gestational diabetes were not associated with NEC. Power analysis showed the sample size was sufficient to detect an association of NEC with maternal BMI in three groups analyzed. In this case-control study, there was an association between NEC and maternal overweight but not obesity at delivery.
    CONCLUSIONS: Our results did not show a significant association of NEC with maternal obesity. The percent of overweight and obese mothers prior to pregnancy and at delivery was significantly higher in our population than the national average and may be responsible for the limited ability to reveal any association between maternal obesity and NEC.
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  • 文章类型: Case Reports
    目的:概述临床体征,诊断,以及对一例新生儿甲状腺功能亢进的护理过程,同时总结与这种情况有关的常见诊断错误。
    方法:收集甲亢新生儿的病历,结合文献进行分析。
    结果:新生儿的母亲患有甲状腺疾病,但妊娠期间未监测她的促甲状腺激素受体抗体(TRAb)水平.新生儿在出生当天表现出典型的甲状腺功能亢进症状,但直到15天后才被诊断出来。肝脏受损(胆汁淤积,肝酶升高)和心功能(肺动脉高压,右心增大)是主要表现。甲伊咪唑(1.0mg/kg·d)和普萘洛尔(2.0mg/kg·d)治疗导致恢复,新生儿在出院前住院27天。诊断为暂时性甲状腺功能亢进,在72日龄时停药.
    结论:加强高危妊娠合并甲状腺疾病妇女的管理十分重要。应动态监测母亲和新生儿的TRAb水平,以便早期预测和诊断新生儿甲状腺功能亢进。大多数甲状腺功能亢进的新生儿在提供及时和适当的药物治疗时预后良好。
    OBJECTIVE: To outline the clinical signs, diagnosis, and course of care for a single case of neonatal hyperthyroidism while also summarizing common diagnostic errors related to this condition.
    METHODS: Medical records of the neonate of hyperthyroidism were collected and analyzed in combination with literature.
    RESULTS: The neonate\'s mother had thyroid disease, but her thyrotropin receptor antibody (TRAb) levels were not monitored during pregnancy. The neonate exhibited typical symptoms of hyperthyroidism on the day of birth but was not diagnosed until 15 days later. Impaired liver (cholestasis, elevated liver enzymes) and cardiac function (pulmonary hypertension, right heart enlargement) are the main manifestations. Treatment with methimazole (1.0 mg /kg·d) and propranolol (2.0 mg /kg·d) led to recovery, and the neonate stayed in the hospital for 27 days before being discharged with medication. The diagnosis was temporary hyperthyroidism, and the medication was discontinued at 72 days of age.
    CONCLUSIONS: It is important to strengthen the management of high-risk pregnant women with thyroid disease. Monitoring TRAb levels in both mothers and neonates should be done dynamically to enable early prediction and diagnosis of neonatal hyperthyroidism. Most neonates with hyperthyroidism have a good prognosis when timely and appropriate medical treatment is provided.
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  • 文章类型: Case Reports
    背景:早期诊断为新生儿结节性硬化症综合征(TSC)的病例相对较少,颅内出血的误诊更为罕见。回顾性分析1例早期症状不典型、误诊为新生儿颅内出血的新生儿结节性硬化症的临床资料。
    方法:孩子为女性,出生后12天无明显惊厥原因。当地医院初步诊断为“新生儿颅内出血,先天性心脏病,治疗5天后仍有抽搐,所以它被转移到我们医院的新生儿重症监护室。
    方法:入院后,心脏彩色超声,磁共振成像,进行了脑电图检查,并结合临床症状诊断为TSC。然而,外周血全外显子测序未检测到TSC1和TSC2等已知致病突变.
    方法:明确诊断后,西罗莫司,并给予了vigabatrin。但是仍然有抽搐。托吡酯,丙戊酸,和奥卡西平相继加入门诊进行抗癫痫治疗,和vigabatrin逐渐减少。
    结果:到目前为止,尽管癫痫发作有所减少,他们还没有被完全控制。
    结论:新生儿结节性硬化症的TSC不同于年龄较大的儿童。它通常以呼吸窘迫和心律失常为特征,可能伴有抽搐,但是攻击之间的活动是正常的。然而,新生儿颅内出血可由早产引起,出生伤害,缺氧,等。其特点是急性起病,严重的疾病,和快速发展。因此,这两种疾病的诊断不仅应基于医学影像学,还要结合其临床特点。当影像学特征与临床诊断不一致时,应该再次进行全面评估。新生儿惊厥发作的时机和模式有助于鉴别诊断。如果有心脏横纹肌瘤,室管膜下或皮质结节,皮肤低黑色素瘤,etc,应考虑新生儿TSC的可能性,应根据其诊断标准进行诊断,以避免或减少误诊。
    BACKGROUND: Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn.
    METHODS: The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as \"neonatal intracranial hemorrhage, congenital heart disease,\" and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital.
    METHODS: After admission, cardiac color ultrasound, magnetic resonance imaging, and electroencephalogram were performed, and TSC was diagnosed in combination with clinical symptoms. However, no known pathogenic mutations such as TSC1 and TSC2 were detected by peripheral blood whole exon sequencing.
    METHODS: After a clear diagnosis, sirolimus, and vigabatrin were given. But there were still convulsions. Topiramate, valproic acid, and oxcarbazepine were successively added to the outpatient department for antiepileptic treatment, and vigabatrin gradually decreased.
    RESULTS: Up to now, although the seizures have decreased, they have not been completely controlled.
    CONCLUSIONS: The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.
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  • 文章类型: Journal Article
    目的:该研究旨在评估我们三级中心胎儿心脏横纹肌瘤的遗传和临床结局。
    方法:对产前随访期间胎儿超声心动图检出的心脏横纹肌瘤病例资料进行回顾性分析。
    结果:9例纳入研究。心脏横纹肌瘤的发病率为0.003%。中位胎儿诊断时间为26周,最常见的位置是LV。在任何情况下都没有需要心血管干预的血液动力学障碍。在8个基因检测病例中,四个是结节性硬化症(TSC)基因阴性,一个遗传性TSC2,一个从头TSC1和两个从头TSC2基因突变体。这些病例的产后第一年生存率为88.8%。
    结论:心脏横纹肌瘤是一种罕见的胎儿和儿科病理,通常是TSC临床过程中的重要发现。因此,应对病例进行多系统评估,并向家庭提供遗传咨询。
    OBJECTIVE: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center.
    METHODS: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow-up were analyzed retrospectively.
    RESULTS: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene-negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first-year survival rate of the cases was 88.8%.
    CONCLUSIONS: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family.
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  • 文章类型: Case Reports
    背景:新生儿单纯疱疹病毒(HSV)感染很少见,并且具有显着的死亡率。大约85%的新生儿在产时被感染,母婴传播的危险因素包括阴道分娩,原发性孕产妇感染,和延长的胎膜破裂。新生儿HSV可表现为孤立的皮肤粘膜病变,神经受累,或传播疾病。总的来说,疱疹感染可引起眼睑结膜炎或角膜炎。我们报告了一例罕见的先天性疱疹,伴有眼科表现和多系统受累。
    方法:早产儿,出生在32周零2天,假定新生儿感染出现肠道和呼吸道并发症,以及左鼻孔和口腔粘膜上的充血病变。要求进行眼科评估,并提出了HSV感染的怀疑,表明静脉内阿昔洛韦的经验性治疗。稍后,一项新的眼部检查提示全葡萄膜炎。之后,HSV-1和HSV-2的血清IgM抗体呈阳性。适当的抗病毒治疗导致病情的改善。
    结论:新生儿疱疹与持续性皮肤病变的高风险相关,长期的神经残疾和其他持久的后遗症。在新生儿结膜炎的病例中,必须考虑HSV感染,特别是对于有上皮缺损的患者,在最初使用局部或全身抗生素治疗后没有改善。
    结论:在新生儿HSV的管理中,早期诊断对于及时开始抗病毒治疗至关重要。我们的报告强调,眼部评估对于正确诊断这种情况至关重要。
    Neonatal herpes simplex virus (HSV) infection is rare and has significant morbimortality rates. Approximately 85% of newborns are infected intrapartum, and risk factors for mother-to-child transmission include vaginal delivery, primary maternal infection, and prolonged rupture of membranes. Neonatal HSV can manifest with isolated mucocutaneous lesions, neurological involvement, or disseminated disease. In general, herpetic infection can cause blepharoconjunctivitis or keratitis. We report a rare case of congenital herpes with ophthalmologic manifestations and multisystemic involvement.
    A preterm infant, born at 32 weeks and 2 days, with presumed neonatal infection developed intestinal and respiratory complications, as well as hyperemic lesions on the left nostril and oral mucosa. An ophthalmological assessment was requested and brought up the suspicion of HSV infection, indicating empirical treatment with endovenous acyclovir. Later, a new ocular examination was suggestive of panuveitis. Afterward, serum IgM antibodies to HSV-1 and HSV-2 were positive. Proper antiviral therapy led to an improvement in the condition.
    Neonatal herpes is associated with a high risk of persistent skin lesions, long-term neurological disability and other lasting sequelae. It is essential to consider HSV infection in cases of neonatal conjunctivitis, especially in patients with an epithelial defect and no improvement after initial treatment with topical or systemic antibiotics.
    In the management of neonatal HSV, early diagnosis is essential for the timely initiation of antiviral therapy. Our report highlights that ocular assessment can be crucial in the correct diagnostic investigation of this condition.
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