3D ultrasound

三维超声
  • 文章类型: Case Reports
    背景:额鼻突发育不良(FND)是一种罕见的先天性异常,由额鼻突发育不足引起,它可以是综合征或非综合征。FND的典型特征包括畸形的鼻子和眼睛近视,有时与唇裂和/或腭裂有关。在过去的30年中,仅报告了大约10例产前诊断为非综合征性FND的病例。
    方法:一名33岁女性(G2P1)在妊娠20周时因双侧脑积水被转诊到我们中心。我们检测到了FND的典型特征,包括严重的听力亢进,正中鼻双向度,轻微的唇裂,和使用三维(3D)超声的多个肢体异常。胼胝体发育不良,单侧小生症,还发现了室间隔缺损。基因检测,包括核型分析,拷贝数变异(CNV)分析,三全外显子组测序(trio-WES),和三全基因测序(trio-WGS),执行;然而,与父母相比,我们在胎儿中没有发现任何从头基因变异。尸检证实了FND的产前诊断。
    结论:本病例扩大了产前FND患者的广泛表型范围。3D超声是检测面部和肢体畸形的有用工具。
    BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years.
    METHODS: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND.
    CONCLUSIONS: The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.
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  • 文章类型: Case Reports
    双胎反向动脉灌注(TRAP)序列是单绒毛膜双胎妊娠极为罕见的并发症,一个严重畸形的双胞胎(“无心”)缺乏自主的胎盘血液供应,并由双胞胎(“泵”)进行灌注,通过位于胎盘表面的动脉-动脉(有时也是静脉-静脉)血管吻合。预后较差:由于严重畸形,无心双胞胎的死亡率为100%,而泵双胞胎的死亡率约为50-55%,主要是由于心力衰竭和早产。所以,TRAP双胎妊娠的围产期管理的目标是分娩健康且近期无心力衰竭或胎儿水肿的双胎.直觉上,诊断越早,结果越好。在这里,我们报告了两例单绒毛膜单羊膜(MCMA)双胎妊娠并发TRAP序列,这是令人感兴趣的,因为早期诊断的目的是通过经阴道和3D超声实现的,两种技术,显示自己是有用的,但在文献中使用不足。本研究的第二个目的是提供有关诊断的文献数据的概述,预后建立,以及对这种罕见疾病的管理,由于质量差的证据微不足道,这些证据仍然存在争议和不清楚。
    The Twin Reversed Arterial Perfusion (TRAP) Sequence is an extremely rare complication of monochorionic twin pregnancies, with one severely malformed twin (the \"acardiac\") lacking autonomous placental blood supply and being perfused by the co-twin (the \"pump\"), through arterio-arterial (and sometimes also veno-venous) vascular anastomoses located on the placental surface. The prognosis is poor: mortality is 100% in the acardiac twin because of its severe malformations and about 50-55% in the pump twin, mainly due to heart failure and prematurity. So, the goal of perinatal management of the TRAP twin pregnancy is to deliver a healthy and near-term pump twin without heart failure or fetal hydrops. Intuitively, the earlier the diagnosis, the better the outcome. Herein, we report two cases of monochorionic monoamniotic (MCMA) twin pregnancies complicated by the TRAP Sequence, which are of interest since the objective of early diagnosis was achieved by means of transvaginal and 3D ultrasound, two techniques which revealed themselves as being useful to this purpose but are underused in the literature. The second aim of this study is to provide an overview of literature data about the diagnosis, prognosis establishment, and management of this rare condition, which are still debated and unclear due to negligible poor-quality evidence.
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  • 文章类型: Case Reports
    脐带真正的结是罕见的,影响约1%的怀孕。常规超声检查可能会在产前漏诊。许多已知的诱发因素与真正的打结有关。在大多数情况下,它对胎儿的结局没有影响,但可能很少与子宫内胎儿死亡有关。
    True knots in the umbilical cord are rare, affecting approximately 1% of all pregnancies. The diagnosis may be missed antenatally during routine ultrasonography. Many known predisposing factors are associated with true knotting. In the majority of cases, it has no bearing on foetal outcome, but may rarely be linked to intra-uterine foetal death.
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  • 文章类型: Case Reports
    Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by the specialist in a routine scan. Herein, we present a case of a 20-week-old fetus (from an apparently low-risk pregnancy) with complex cardiac and vascular abnormalities, including an arteriovenous malformation along with ventricular septal defect, ductal coarctation of the aorta, aneurysm of a brachiocephalic vein, and dilation of the entire neck and upper mediastinum venous system, and the limitations that were encountered in the process of diagnosis and management of the case.
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  • 文章类型: Case Reports
    说明B-Lynch缝合和结扎子宫动脉后的产科结局。
    一名26岁的未产妇女。因难产而进行的剖腹产因子宫收缩而复杂化。B-Lynch子宫压迫缝合技术与子宫动脉升支结扎结合使用。在随后的生育治疗之前,凝胶滴注超声和能量多普勒成像显示子宫腔正常,子宫肌层血管化恢复。随后的剖腹产显示子宫前浆膜上有外部粘连。分娩了一个体重正常的健康婴儿。有局灶性胎盘植入;下面的子宫肌层明显变薄,容易倒置。
    在B-Lynch缝合并结扎子宫动脉的上行分支后,随后怀孕并不复杂。必须在进一步的研究中评估B-Lynch缝合线与随后妊娠中胎盘植入或子宫内翻之间的潜在关联。此病例报告说明了3D凝胶滴注超声检查如何成为评估子宫腔完整性的宝贵工具。
    UNASSIGNED: To illustrate the obstetrical outcome after B-Lynch sutures and ligation of the uterine arteries.
    UNASSIGNED: A 26-year-old nulliparous woman. A caesarean section performed for obstructed labour was complicated by uterine atony. A B-Lynch uterine compression suture technique was used combined with ligation of the ascending branches of the uterine arteries. Before the subsequent fertility treatment, gel instillation sonography and power Doppler imaging showed a normal uterine cavity and restored myometrial vascularization. Subsequent caesarean section showed external adhesions on the anterior uterine serosa. A healthy baby of normal weight was delivered. There was focal placenta accreta; the underlying myometrium was strikingly thinner and prone to inversion.
    UNASSIGNED: After B-Lynch sutures and ligation of the ascending branches of the uterine arteries, the pregnancy was subsequently uncomplicated. The potential association between B-Lynch sutures and placenta accreta or uterine inversion in a subsequent pregnancy has to be assessed in further studies. This case report illustrates how 3D gel instillation sonography is a valuable tool to evaluate the integrity of the uterine cavity.
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    文章类型: Case Reports
    In this case report we present a patient with different pregnancy outcomes after IVF treatments. After an extremely premature delivery in her first pregnancy, a vaginal 3D ultrasound scan revealed a correct diagnosis for her uterine anomaly: A complete uterine septum, double cervix and non-obstructive longitudinal vaginal septum, classified as U2bC2V1 according to the European Society of Human Reproduction and EmbryologyEuropean Society for Gynaecological Endoscopy (ESHRE-ESGE)-classification. She underwent a cervix sparing metroplasty and had a spontaneous vaginal birth at 41+2 weeks gesttation. For patients with otherwise unexplained infertility or earlier premature delivery, a diagnostic workup, oriented to the research of uterine malformations, should be taken into consideration.
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  • 文章类型: Case Reports
    Osseous metaplasia of the endometrium is a rare condition characterized by abnormal bone formation in the uterine endometrium. The osseous fragments act like a foreign body in the uterine cavity; thus, infertility, menstrual abnormalities, pelvic pain dysmenorrhea, and dyspareunia are commonly associated. We present a case series of four women with osseous metaplasia of the endometrium with different symptomatology. Two-dimensional endovaginal examination played a primary role in the diagnosis, the characteristic ultrasound pattern being hyperechoic linear or irregular areas within the endometrium casting posterior acoustic shadowing. Three-dimensional ultrasound better demonstrated the irregular appearance and clearly differentiated the oseous metaplasia from an intrauterine device.
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  • 文章类型: Case Reports
    暂无摘要。
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  • 文章类型: Journal Article
    OBJECTIVE: To study the preconceptual & early conceptional risk factors predisposing to the development of spina bifida (SB) among Egyptian population.
    METHODS: The study involved 197 pregnant women undergoing fetal anatomy scan; 97 women proved to have fetal SB and 100 women with normal fetuses as a control group. The control group was recruited randomly in the same period from patients undergoing anatomical scan. Risk factors that might lead to SB were investigated including maternal age, gravidity, parity, residence, history of diabetes mellitus or drug intake, smoking, infections, exposure to X-ray, history of congenital anomalies in other offspring, parental consanguinity, positive family history, and folate supplementations.
    RESULTS: SB affected the lumbo-sacral region in the majority of cases (89.7%). It was associated with hydrocephalus in 66 cases (68%), polyhydramnios in 12 cases (12.4%). The SB group showed significantly higher parity (p = 0.005), more frequent history of drug intake (p < 0.001), higher frequency of infection with CMV (p = 0.004), and HSV (p = 0.013) and less proportion of folate supplementation (p < 0.001).
    CONCLUSIONS: The rate of SB in the tested group was five per 1000. Risk factors were lack of folate supplementation and history of antiepileptic drugs intake.
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