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Prenatal Diagnosis of a Case of Asyndromic Tessier Class-7 Bilateral Complete Transverse Facial Cleft: Case Report with Review of Literature 一例 Tessier Class-7 双侧完全横向面裂的产前诊断:病例报告与文献综述
IF 0.2 Pub Date : 2024-04-16 DOI: 10.1055/s-0044-1779289
Seneesh Kumar Vikraman, Shasmita Yandamuri, Jay Desai
Transverse or lateral facial clefts are atypical and rare forms of facial clefts identified as Tessier type 7 in the classification system for orofacial clefts. They have an overall incidence of 1 in 60,000 to 300,000 live births. We report a case diagnosed at 22 weeks of gestation. The two-dimensional (2D) ultrasound examination revealed a single live fetus with a persistently open mouth, failure of visualization of lateral commissures, and mild retrognathia. The three-dimensional (3D) surface rendering of the fetal face demonstrated a bilateral horizontal facial cleft that extended from the lateral commissures to the ears. No additional anomalies were identified. Fetal karyotype and whole exome sequencing reports did not reveal any genomic imbalances. The case highlights the importance of 2D oblique and 3D imaging of the fetal face when subtle findings are detected in routine 2D views. A review of the literature is provided to enhance the understanding of the entity.
横向或侧向面裂是一种非典型的罕见面裂,在口面部裂纹分类系统中被确定为泰西尔 7 型。它们的总体发病率为每 6 万至 30 万活产婴儿中就有 1 例。我们报告了一个在妊娠 22 周时确诊的病例。二维(2D)超声检查显示,单个活胎儿持续张口、侧颊突未见、轻度后腭。胎儿面部的三维(3D)表面渲染图显示,双侧水平面裂从侧颊突延伸至耳朵。未发现其他异常。胎儿核型和全外显子组测序报告未发现任何基因组失衡。该病例强调了在常规二维切面中发现细微发现时,对胎儿面部进行二维斜面和三维成像的重要性。文献综述有助于加深对这一实体的理解。
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引用次数: 0
Congenital Hallux Varus: A Rare Prenatal Detection and Postnatal Management 先天性拇指外翻:一种罕见的产前检测和产后处理方法
IF 0.2 Pub Date : 2024-04-16 DOI: 10.1055/s-0044-1779435
Prajakta Aloorkar, Gayathri Vemavarapu, Venkatram T., Shantisree R.
Congenital hallux varus (CHV) is an uncommon anomaly of the forefoot where the big toe is positioned medially at the metatarsophalangeal joint, accompanied by a significant gap between the first and second toes. CHV is associated with difficulty in wearing clothes and footwear. CHV can cause pain that hampers the quality of life and can often be aesthetically displeasing.Although prenatal presentation is rare, CHV can be detected by antenatal ultrasound with appropriate foot examination and a high index of suspicion. Early detection and management are recommended for optimizing antenatal and postnatal management as they may reduce the chance of permanent deformity.We are herewith reporting a prenatally detected case of a CHV with polysyndactyly and its management. This is one of the few prenatally reported cases of isolated unilateral foot abnormalities.
先天性拇指外翻(CHV)是一种不常见的前足畸形,大脚趾位于跖趾关节的内侧,第一趾和第二趾之间有明显的间隙。CHV与穿衣和穿鞋困难有关。虽然产前病例很少见,但可以通过产前超声波检查和适当的足部检查以及高度怀疑来发现 CHV。我们在此报告一例产前发现的伴有多指畸形的 CHV 病例及其治疗方法。这是少数几个产前报告的孤立性单侧足畸形病例之一。
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引用次数: 0
Heterokaryotypic Monochorionic Twin Pregnancy: New Perspective 异原型单绒毛膜双胎妊娠:新视角
IF 0.2 Pub Date : 2024-04-16 DOI: 10.1055/s-0044-1780493
Ashutosh Gupta, A. Aneja, Neena Bahl, Rupam Arora, R. Sehgal, Pankaj Saini
Monozygotic twins are thought to be identical since they are created from a single fertilized egg, yet there may be differences in their congenital defects, birth weight, and genetic makeup. Asymmetric X chromosome inactivation, unequal gene imprinting, and postzygotic mitotic mistakes including nondisjunction and anaphase lag can all result in heterokaryotypic monochorionic twins. We report a monochorionic twin pregnancy that exhibited stigmata associated with trisomy 18 on postnatal examination despite a low risk of common aneuploidy (trisomy 18) on noninvasive prenatal screening. Short tandem repeat markers were used for postnatal examination to confirm high-grade mosaicism. These markers indicated mosaic trisomy 18 in twin II and normal in twin I, ruling out uniparental disomy and establishing monozygosity in both fetuses. Twin sac amniocentesis is a prenatal diagnostic procedure that can be used to identify discrepant monochorionic twins because chorionic villus sampling, single sac amniocentesis, or cordocentesis may not be able to rule out aneuploidy in the second fetus and may yield a false-negative result. For prompt zygosity diagnosis, chromosomal complement, genetic counseling, and referral for selective fetal reduction, twin sac amniocentesis is recommended.
单卵双胞胎被认为是完全相同的,因为他们是由一个受精卵产生的,但他们的先天缺陷、出生体重和遗传组成可能存在差异。不对称的 X 染色体失活、不平等的基因印记以及合子后有丝分裂错误(包括无丝分裂和无丝分裂滞后)都可能导致异型单绒毛膜双胞胎。我们报告了一例单绒毛膜双胎妊娠,尽管在无创产前筛查中常见的非整倍体(18 三体综合征)风险很低,但在产后检查中却表现出与 18 三体综合征相关的症状。短串联重复标记用于产后检查,以确认高度嵌合。这些标记显示,双胞胎 II 患有嵌合型 18 三体综合征,而双胞胎 I 则正常,从而排除了单亲裂殖症的可能,并确定了两个胎儿的单倍性。由于绒毛取样、单囊羊膜腔穿刺术或脐带穿刺术可能无法排除第二个胎儿的非整倍体,并可能产生假阴性结果,因此双囊羊膜腔穿刺术是一种可用于鉴别差异单绒毛膜双胎的产前诊断方法。為了及時診斷胎兒的合子率、進行染色體補 充、提供遺傳輔導及轉介進行選擇性減胎,建議進行雙胎羊膜腔穿刺。
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引用次数: 0
Malignant Infantile Osteopetrosis Masquerading as Isolated Fetal Femoral Fracture: First Indian Case Report and Review of Literature 伪装成孤立性胎儿股骨骨折的恶性婴幼儿骨软化症:印度首例病例报告和文献综述
IF 0.2 Pub Date : 2024-04-16 DOI: 10.1055/s-0044-1780491
Balusamy Sathyalakshmi, Vanathi Thangavelu Jothi
Malignant infantile osteopetrosis is a rare case of isolated fetal femoral fracture, a scarcely documented phenomenon in medical literature. Through detailed examination and genetic testing, it unveils malignant infantile osteopetrosis as an unexpected etiology, challenging existing diagnostic paradigms. This groundbreaking case emphasizes the critical role of genetic testing in unraveling complex fetal anomalies and underscores the necessity for comprehensive approaches in prenatal diagnostics, offering new insights into prenatal manifestations of skeletal dysplasias.
恶性婴幼儿骨质增生症是一例罕见的胎儿孤立性股骨骨折病例,在医学文献中鲜有记载。通过详细检查和基因检测,该病例揭示了恶性婴幼儿骨质变性这一意想不到的病因,对现有的诊断范式提出了挑战。这一突破性病例强调了基因检测在揭示复杂的胎儿畸形中的关键作用,并强调了产前诊断中采用综合方法的必要性,为骨骼发育不良的产前表现提供了新的见解。
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引用次数: 0
Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature 宾德表型--产前诊断、管理和产后结果:一个病例系列的启示和最新文献综述
IF 0.2 Pub Date : 2024-04-16 DOI: 10.1055/s-0044-1786170
Brinda Sabu, Dhanya Shenoy, V. R
Binder phenotype (BP) or maxillonasal dysplasia is a developmental disorder of the anterior part of the maxilla and nasal complex and is characterized by a short nose with a flat nasal bridge, short columella, acute nasolabial angle, perialar flatness, convex upper lip, and tendency to a class III malocclusion. The etiology of BP is heterogeneous with diverse features and outcomes. The ultrasound features of BP are midfacial hypoplasia with verticalized nasal bones, short columella with flattened tip and alar wings, and the nasofrontal angle measuring >140 degrees. In this case series, we present seven cases of BP detected antenatally, their varied etiology, management, and outcomes with a 2-year follow-up. We conclude that the diagnosis of facial dysmorphisms, such as BP, brings a lot of apprehension and agony in the parents amounting to multiple tests and counseling sessions. Physiognomy which is the normal familial appearance should be considered before concluding whether the observed feature is normal or pathological. Accurate diagnosis, adequate testing, and personalized counseling will help in the prevention of needless termination of pregnancies and ensure an optimal perinatal outcome.
宾德表型(Binder phenotype,BP)或上颌骨发育不良(maxillonasal dysplasia)是一种上颌骨前部和鼻复合体的发育障碍,其特征是鼻梁短平、鼻小柱短、鼻唇角尖锐、鼻唇周扁平、上唇外凸,以及倾向于 III 级错颌畸形。BP 的病因多种多样,具有不同的特征和结果。BP 的超声波特征是面中部发育不良,鼻骨垂直,鼻翼短小,鼻尖和耳翼扁平,鼻额角大于 140 度。在本病例系列中,我们介绍了七例产前发现的 BP 病例、其不同的病因、处理方法以及两年随访的结果。我们的结论是,面部畸形(如 BP)的诊断会给父母带来很多担忧和痛苦,需要进行多次检查和咨询。在断定所观察到的特征是正常的还是病态的之前,应先考虑正常的家族相貌。准确的诊断、充分的检查和个性化的咨询将有助于避免不必要的终止妊娠,并确保围产期的最佳结果。
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引用次数: 0
Prenatal Diagnosis of Renal Rhabdoid Tumor: A Rare Malignant Neoplasm 肾横纹肌瘤的产前诊断:一种罕见的恶性肿瘤
IF 0.2 Pub Date : 2024-04-10 DOI: 10.1055/s-0044-1780492
Vidhika Berwal, V. Krishnan, M. Eapen, Vidya Chandraprabha, R. Elayedatt
Rhabdoid tumors of the kidney are highly lethal malignancies of infancy. We report the prenatal detection of this renal tumor in a fetus in the third trimester of pregnancy. Ultrasonologically, the tumor appeared as a large mass in the left renal area associated with severe polyhydramnios. Though the sonographic features alone did not allow distinction from a benign lesion, tumor extension into the subcutaneous plane favored the possibility of a malignant renal tumor and this was confirmed postnatally on histopathology.
肾脏横纹肌瘤是婴儿期致死率极高的恶性肿瘤。我们报告了一名怀孕三个月的胎儿在产前发现了这种肾肿瘤。超声检查显示,该肿瘤在左肾区出现巨大肿块,并伴有严重的多胎妊娠。虽然仅凭超声特征无法将其与良性病变区分开来,但肿瘤延伸至皮下平面的情况使其更有可能是恶性肾肿瘤,这一点在产后的组织病理学检查中得到了证实。
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引用次数: 0
SFM Fetal Therapy Practice Guidelines: Fetal Cystoscopic Laser Ablation SFM 胎儿治疗实践指南:胎儿膀胱镜激光消融术
IF 0.2 Pub Date : 2024-04-01 DOI: 10.1055/s-0044-1782222
Gourisankar Rudrapal, Adinarayan Makkam, V. Krishnan
Fetal lower urinary tract obstruction (LUTO) in a male fetus could cause detrimental effects to the KUB (kidney, ureter, and bladder) system from back-pressure changes as well as to the lungs from reduced amniotic fluid. In a carefully selected case where the obstruction causes progressive damage, a therapeutic intervention could be lifesaving. In utero vesico-amniotic shunting has been shown to improve perinatal pulmonary survival, but evidence on improvement of renal outcomes with this procedure is lacking. More recently, fetal cystoscopic laser fulguration has been shown to be beneficial in longer-term survival and renal outcomes. These interventions carry significant risk, and therefore patient selection and optimal timing are key. This guideline lists the intricacies of patient selection, relevant counseling points and procedural details.
男性胎儿的胎儿下尿路梗阻(LUTO)可能会因背压变化而对 KUB(肾脏、输尿管和膀胱)系统造成不利影响,也会因羊水减少而对肺部造成不利影响。在经过仔细筛选的情况下,如果阻塞造成了渐进性损伤,治疗干预可能会挽救生命。宫内膀胱-羊水分流术已被证明可改善围产期肺部存活率,但缺乏通过该手术改善肾脏预后的证据。最近,胎儿膀胱镜激光充盈术已被证明对长期存活率和肾脏预后有益。这些干预措施具有重大风险,因此患者选择和最佳时机是关键。本指南列出了患者选择的复杂性、相关咨询要点和手术细节。
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引用次数: 0
SFM Fetal Therapy Practice Guidelines: Fetal Interstitial Laser SFM 胎儿治疗实践指南:胎儿间质激光
IF 0.2 Pub Date : 2024-03-19 DOI: 10.1055/s-0044-1778740
K. A. Sharma, Seneesh Kv, Latika Chawla, Anubhuti Rana
Fetal laser therapy was first used in complicated monochorionic pregnancies such as twin-to-twin transfusion syndrome or twin-reversed arterial perfusion sequence. There are some other less common indications such as amniotic band syndrome, chorioangiomas, lower urinary tract obstructions, sacrococcygeal teratomas, and fetal thoracic masses. These practice guidelines discuss the indications, contraindications, and risks of the procedure along with information for patients and draft consent form.
胎儿激光治疗最早用于复杂的单绒毛膜妊娠,如双胎输血综合征或双胎反向动脉灌注序列。还有其他一些不太常见的适应症,如羊膜带综合征、绒毛血管瘤、下尿路梗阻、骶尾部畸胎瘤和胎儿胸部肿块。这些实践指南讨论了该手术的适应症、禁忌症和风险,以及患者须知和同意书草案。
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引用次数: 0
SFM Fetal Therapy Practice Guidelines: Fetoscopic Laser Photocoagulation in Monochorionic Twins SFM 胎儿治疗实践指南:单绒毛膜双胎的胎儿镜激光光凝术
IF 0.2 Pub Date : 2024-01-29 DOI: 10.1055/s-0044-1779006
V. Dadhwal, Krishnan Manikandan, Anubhuti Rana
Fetoscopic laser coagulation is offered as a method of treatment for twin-to-twin transfusion syndrome or twin anemia polycythemia sequence. It involves laser ablation of intercommunicating superficial blood vessels on the surface of the placenta, under sono-endoscopic control. Preterm labor and preterm prelabor rupture of the membranes are known complications. The results depend on the expertise of the surgeon, location of the placenta, indication for treatment, severity of disease, and growth of babies. The chances of both babies surviving are around 65% and one baby surviving is 85%.
胎盘镜激光凝固术是治疗双胎输血综合征或双胎贫血多血症序列的一种方法。它包括在超声内窥镜的控制下,对胎盘表面相互沟通的浅表血管进行激光消融。早产和早产前胎膜破裂是已知的并发症。手术效果取决于外科医生的专业知识、胎盘的位置、治疗指征、疾病的严重程度以及婴儿的生长情况。两个婴儿存活的几率约为 65%,一个婴儿存活的几率为 85%。
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引用次数: 0
Monochorionic Twin Pregnancy Complicated by Arrhythmia in One Twin: Longitudinal Hemodynamic Effects of Flecainide Cardioversion Assessed by Fetal Venous Doppler 单绒毛膜双胎妊娠合并一胎心律失常:胎儿静脉多普勒评价氟屈奈复律对纵向血流动力学的影响
Pub Date : 2023-11-06 DOI: 10.1055/s-0043-1774753
Anders Einum, Philip von Brandis, Elisabeth Leirgul, Cathrine Ebbing
Abstract A parous woman with a monochorionic twin pregnancy presented at gestational week 25 with an uncommon situation. One twin had developed hydrops, but not due to placental transfusion syndrome. The twin had a supraventricular tachyarrhythmia, a rare and severe complication that untreated would threaten the lives of both twins. We present the longitudinal Doppler ultrasound findings when assessing the hemodynamic effects of the arrhythmia and the transplacental treatment with antiarrhythmic medication (flecainide), and how the arrhythmia and the conversion to normal rhythm influenced umbilical and liver circulation in the fetus.
摘要1例单绒毛膜双胎妊娠妇女在妊娠第25周出现罕见情况。双胞胎中的一个出现了积液,但不是由于胎盘输血综合征。这对双胞胎患有室上性心动过速,这是一种罕见而严重的并发症,如果不治疗,将危及双胞胎的生命。我们介绍了纵向多普勒超声在评估心律失常和经胎盘治疗抗心律失常药物(flecainide)的血流动力学影响时的发现,以及心律失常和向正常节律的转化如何影响胎儿的脐带和肝脏循环。
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引用次数: 0
期刊
Journal of Fetal Medicine
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