The role of autopsy following pregnancy termination for fetal abnormality

OBJECTIVE: To review the frequency of autopsy following pregnancy termination for fetal anomaly and its contribution to subsequent counselling. METHODS: All medical pregnancy terminations for fetal anomaly performed after 14 weeks gestation from January 1997 to December 2006 were identified and the frequency of autopsy ascertained. The prenatal diagnosis prompting the termination was then compared with the autopsy data, and a diagnostic valuation was determined. The potential autopsy value ranged from no additional information provided, minor added value, significant added value, major added value to non-confirmation of the prenatal findings. RESULTS: During the ten-year study period, there were 1012 consecutive terminations for fetal abnormality. The principal indications for termination were: karyotypic (38.4%); neural tube defects (16.1%); cardiac (10.3%) and cerebral anomalies (7.5%). Autopsy was performed in 809 cases (79.9%). The autopsy rate progressively declined from 95.1% in 1997 to 67.5% in 2006 (P<0.001). Women declining autopsy were older (31 years (26,35) vs 32 years (27,37), P=0.005) and more likely to have a fetal chromosomal abnormality (30.6% vs 69.9%, P<0.001) (autopsy vs no-autopsy). In euploid cases, autopsy confirmed the prenatal diagnosis with no additional information in 63.5% (357 of 562). In 1.1% (six cases), autopsy added major diagnostic information, and in 15.1% (85 cases), significant information was provided. CONCLUSIONS: Although contemporary prenatal testing has improved the recognition of fetal abnormalities, autopsy remains a valued tool by providing diagnosis or clarification of some prenatal findings in 16% of cases. Fetal autopsy rates are declining and this trend may lead to a loss of diagnostic and recurrence risk-counselling information.     

婴幼儿主动脉缩窄合并心内畸形的Ⅰ期手术纠治

目的:总结主动脉缩窄合并心内畸形的外科治疗经验。方法:回顾分析2007年1月至2011年6月我院收治的婴幼儿主动脉缩窄合并心内畸形Ⅰ期手术治疗的临床病例。共计42例,其中男性26例,女性16例。平均年龄(1.6±0.9)岁(6 d～3岁),平均体质量(7.2±2.5)kg(2.8～12kg)。主动脉缩窄合并心内畸形:37例合并室间隔缺损,5例合并房间隔缺损,7例同时合并主动脉瓣二瓣畸形,手术方法采用双切口I期纠治5例,正中切口I期纠治37例,其中锁骨下动脉翻转法(8例)、人工补片法(6例)、端端吻合法(15例)、端端吻合+补片法(13例)。结果:本组42例中,死亡1例,术后9 d死于肺部感染,病死率2.4%。术后均复查心脏彩超显示降主动脉血流通畅,无明显狭窄,3例提示降主动脉内仍存在20～40 mmHg(1 mmHg=0.133 kPa)压差,心脏彩超示吻合口处狭窄,血流速度增快。结论:婴幼儿主动脉缩窄合并心内畸形采用深低温选择性脑灌注方法经胸骨正中切口I期手术治疗可以达到满意疗效。彻底切除缩窄段及导管组织是手术成功的关键。     

Surgical management of Ebstein anomaly: impact of the adult congenital heart disease anatomical and physiological classifications

OBJECTIVESOur goal was to evaluate the impact of the adult congenital heart disease anatomical and physiological (ACHD AP) classification system on the surgical management of Ebstein anomaly (EA) in adult patients.METHODSFrom February 2000 through August 2017, data of patients aged at least 16 years, who underwent primary EA surgery, were retrospectively evaluated. The cohort was divided in 2 groups according to their ACHD AP classification: the moderate EA group (IIB, IIC) and the severe EA group (IID). Survival, freedom from reoperation and freedom from occurrence of major adverse advents were estimated.Open in a separate windowRESULTSThere were 33 patients (21 women, 12 men). Eighteen belonged to the moderate group, 15 to the severe group. There were 12 female patients (80%) in the severe group. Patients in the moderate group were younger than those in the severe group (P = 0.02): 32 ± 12 vs 44 ± 15 years old. Thirty tricuspid valve repairs and 3 replacements were performed. Repair was mainly performed in the moderate group (P = 0.02). Overall survival was 90.1 ± 5.4% at 9 months after the operation and did not change in the later follow-up period. It was 100% for patients in the moderate group and 80.0 ± 10.3% in the severe group (P = 0.07), and 75.0 ± 12.5% for female patients of in the severe group compared to 100% for the remaining patients (P = 0.025). Survival free from major adverse events, including reoperation, at 10 years was 60.0 ± 12.6% in the moderate and 38.1% ± 12.9% in the severe group (P = 0.03). No patient in the moderate group evolved to be in the severe group at late follow-up.CONCLUSIONAdult EA patients should undergo surgery earlier when they are still in the moderate ACHD AP classification.     

Providing insights into atherosclerosis: A case of multivessel coronary artery disease with an anomalous straightforward vessel spared from atherosclerosis

Atherosclerotic plaques tend to involve arterial localizations in which blood flow is not laminar due to arterial bends and bifurcations. A 49-year-old man was admitted to hospital with breathlessness and was subsequently diagnosed with left ventricular failure. Coronary angiography revealed three-vessel coronary artery disease and an anomalous extra left anterior descending artery taking off from the right sinus of Valsalva and spared from atherosclerosis. The absence of side branches and the relative lack of bends in arterial geometry were considered to be the cause of resistance to atherosclerosis. The present case identifies local flow conditions as an important factor determining the genesis of atherosclerosis in arterial segments.     

Early development of the human dentition revisited

In this review, classical data on the early steps in human odontogenesis are summarized and updated with specific insights into the development of the upper and lower embryonic jaws to help in understanding some oral pathologies. The initial step of human odontogenesis is classically characterized by two parallel horseshoe‐shaped epithelial laminae. These originate from the oral epithelium and an ingrowth into the jaw mesenchyme: the internal dental lamina gives rise to deciduous tooth primordia, while the external vestibular lamina represents the developmental base of the oral vestibule. However, a more complex situation was revealed by recent studies combining analyses of the dental and adjacent oral epithelia on histological sections and computer‐aided three‐dimensional (3D) reconstructions during the 2nd month of human embryonic development. The dental epithelium forms a mound, where swellings appear later, corresponding to the individual primordia of deciduous teeth. External to the developing deciduous dentition, the 3D reconstructions do not show any continuous vestibular lamina but instead a complex of discontinuous epithelial bulges and ridges. The patterns of these epithelial structures and their relationship to the dental epithelium differ not only between the upper and lower jaws but also between the lip and cheek segments in each jaw. Knowledge of early odontogenesis may help in understanding some oral pathologies. For example, the human lateral incisor has a dual origin: it arises in the area of fusion between the medial nasal and maxillary facial processes and involves material from these two regions. Such a dual origin at the site of fusion of facial processes represents a predisposition to developmental vulnerability for the upper lateral incisor, resulting in its frequent anomalies (absence, hypoplasia, duplication), especially in patients with a cleft lip and/or jaw. Other pathologies, such as a minute supernumerary tooth, desmoplastic ameloblastoma or extraosseous odontogenic cysts are located external to the upper or lower dentition, and might be derived from structures that transiently appear during early development of the oral vestibule in humans.     

Symmetrical bronchial pattern with normal atrial morphology

An infant with trisomy 21 and tracheostenosis is described. Postmortem findings included symmetrical bronchi, normal atrial arrangement (“situs”) and anomalous thoracic vessels. The lack of concordance between the bronchial morphology and atrial arrangement supports the premise that atrial morphology is a more accurate predictor of the presence or absence of the isomerism syndromes.     

蝶窦傍气腔的正侧位片X线表现及其临床意义(附34例分析)

蝶窦向周围扩展有时在侧位片上表现为蝶窦傍气腔。本文根据480例正常颅骨正侧位片中的34例共59个气腔进行X线分析。根据部位将蝶窦傍气腔分为3型:蝶窦下(翼突)型、蝶窦傍(大翼)型和混合型。介绍了各型在侧位片上的典型表现和正位片上可见到的征象。简要讨论了这种解剖变异的临床意义。     

主动脉缩窄及主动脉弓离断的电子束CT诊断

目的：探讨电子束CT诊断先天性主动脉缩窄和主动脉弓离断的价值。材料和方法：共10例病人，年龄6—18岁，均经手术证实。对所有患儿行EBCT增强扫描，并对图像行三维重建。结果：10例病人术前均得到正确诊断，其中8例为主动脉缩窄，2例为主动脉弓离断。EBCT均显示了全部8例主动脉缩窄及其缩窄的程度、形态，并显示缩窄处与左锁骨下动脉的关系。其中6例（75％）为局限性狭窄，2例（25％）形成中-重度长管状狭窄。合并畸形有：3例合并动脉导管未闭，1例合并室间隔缺损，1例合并肺动脉狭窄，1例合并二尖瓣狭窄，2例同时合并动脉导管未闭和室间隔缺损。2例主动脉弓离断病例，均合并有动脉导管未闭、室间隔缺损和肺动脉狭窄。EBCT均显示升主动脉与降主动脉呈分离状。结论：EBCT作为一种无创性检查方法，对先天性主动脉病变的诊断有重要价值，并能同时显示合并的胸部大血管异常。