A retrospective study of the accuracy between clinical and autopsy cause of death in the University of Malaya Medical Centre

It is well known that diagnostic accuracy of the clinical cause of death has not improved despite advances in diagnostic techniques. We aimed to investigate the accuracy of the clinical cause of death compared with the autopsy cause of death and to see if the Coroner's autopsy can play a role in clinical audit. Our study population consisted of all autopsies where the deceased was hospitalised or resuscitated at the Accident and Emergency Unit of the University of Malaya Medical Centre before death, performed during the period July 1998 to June 2000. The cases were subdivided according to natural and unnatural causes of deaths. Natural deaths were further subdivided in relation to the main organ systems involved while unnatural deaths were subcategorised into trauma, poisoning and burns. The rate of agreement between clinical and autopsy cause of death was further compared with duration of survival in the hospital. Of 132 autopsies included in this study, 115 were Coroner's autopsies. 78% of cases showed agreement between clinical and autopsy cause of death. The agreement rate in Coroner's cases was 80.0%. For natural and unnatural causes, the agreement rate was 56.7% and 84.3% respectively. There were 6 cases (4.5%) where an initial accurate diagnosis might have altered the prognosis of the deceased. In general, the rate of agreement increased with duration of survival of patients. However, this was no longer observed after a survival of more than 28 days. Our findings agree with other similar studies. The diagnostic accuracy of cause of death has not improved despite the modernisation in medical technology. The autopsy still plays an important role in clinical audit and medical education.     

Discrepancies between clinical and autopsy diagnosis and the value of post mortem histology; a meta-analysis and review

The autopsy is in decline, despite the fact that accurate mortality statistics remain essential for public health and health service planning. The falling autopsy rate combined with the Coroners Review and Human Tissue Act have contributed to this decline, and to a falling use of autopsy histology, with potential impact on clinical audit and mortality statistics. At a time when the need for reform and improvement in the death certification process is so prominent, we felt it important to assess the value of the autopsy and autopsy histology. We carried out a meta-analysis of discrepancies between clinical and autopsy diagnoses and the contribution of autopsy histology. There has been little improvement in the overall rate of discrepancies between the 1960s and the present. At least a third of death certificates are likely to be incorrect and 50% of autopsies produce findings unsuspected before death. In addition, the cases which give rise to discrepancies cannot be identified prior to autopsy. Over 20% of clinically unexpected autopsy findings, including 5% of major findings, can be correctly diagnosed only by histological examination. Although the autopsy and particularly autopsy histology are being undermined, they are still the most accurate method of determining the cause of death and auditing accuracy of clinical diagnosis, diagnostic tests and death certification.     

Virtual CT autopsy in clinical pathology: feasibility in clinical autopsies

For the past century, autopsy techniques in clinical pathology have not changed significantly, while autopsy rates are declining. Modern imaging techniques offer interesting prospects of supportive post-mortem diagnostic investigation. In a prospective study of 29 autopsy cases, complimentary virtual autopsy using unenhanced post-mortem computed tomography (pmCT) was performed. We analysed in a prospective cohort study 29 unenhanced pmCT scans, generated prior to autopsy. Clinical information regarding clinical history and circumstances of death were provided. The objective of the study was to find consistency and/or discrepancy between virtual autopsy and conventional autopsy findings regarding cause of death and death-related diagnoses, reconstruction of the pathogenetic mechanisms involved, side diagnoses and CPR (cardiopulmonary resuscitation)- or death-related post-mortem changes. Accuracy of pmCT for cause of death was 68?% and the positive predictive value (PPV) was 75?%. Regarding the pathogenetic mechanisms, accuracy of pmCT was 21?% and PPV was 29?%. The combined diagnostic yield of autopsy and pmCT was 133?% compared to autopsy only. Modern imaging techniques give an opportunity for post-mortem diagnostics to complete but not yet replace traditional autopsy. We could show that in two out of three cases, the cause of death found by pmCT matched the diagnosis from classical autopsy. While both disciplines, pathology and radiology, will profit from the mutual exchange of data, it seems a realistic aim to strive for virtual autopsy possibly further supported by biopsies and contrast-enhanced pmCT as an alternative to the classical clinical autopsy. A combination of both methods enhances diagnostic quality and completeness of the autopsy report.     

Notwendigkeit der Obduktionssteigerung durch Einführung der DRGs

With the introduction of DRGs (diagnosis related groups) in 2004, a new charging system was initiated in Germany. Changes primarily involve lump sum based charging of inpatient cases regardless of the duration or complexity of diagnostic procedures and therapy, and the equalization of costs for similar services. Calculation of DRGs also includes the costs of autopsy. This has three major consequences for autopsy practice: Quality assurance: continuous monitoring of professional quality under lump sum payment can only be permanently guaranteed and independently and reliably attained by autopsy. This is the only way to overcome the danger of abolishing essential diagnostic procedures because of economic pressure and thus risking incorrect diagnoses. Economy: additional diagnoses revealed by autopsy will, in many cases, raise calculated charges. This could have a significant financial impact. Legal certainty: autopsies increase the accuracy and objectivity of diagnoses. Thus, they protect the attending physician from incorrect charging which may be unintended but could be legally relevant, especially when the cause of death is unclear.For these reasons, autopsy should become more important in clinical routine.     

A prospective study of 1152 hospital autopsies: I. Inaccuracies in death certification

Comparison of certified clinical diagnoses with autopsy findings showed that, while the major cause of death was confirmed in 61 per cent. of cases, many diagnoses—both major and contributory—were wrong; many clinical diagnoses were either disproved or relegated to a less important role, and many autopsy findings had not apparently been anticipated. Accuracy was particularly poor in some clinical categories: notably cerebro-vascular disease and infections. In these, the diagnosis was more often wrong than right. Thus, death certificates are unreliable as a source of diagnostic data. The clinician's confidence in his major diagnosis bore a fairly close relationship to the frequency of its confirmation. Nevertheless, even when certified as “fairly certain”, the major diagnosis was wrong in about one-quarter of these cases. An attempt was made to assess the significance of incorrect diagnoses; one half of these might be clinically significant. Diagnostic accuracy did not improve with the time spent in hospital, and it bore an inverse relationship to the patient's age.     

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

PurposeTo determine the diagnostic yield of combined exome sequencing (ES) and autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in termination of pregnancy, intrauterine, neonatal, or early infant death.MethodsES was undertaken in 27 proband/parent trios following full autopsy. Candidate pathogenic variants were classified by a multidisciplinary clinical review panel using American College of Medical Genetics and Genomics (ACMG) guidelines.ResultsA genetic diagnosis was established in ten cases (37%). Pathogenic/likely pathogenic variants were identified in nine different genes including four de novo autosomal dominant, three homozygous autosomal recessive, two compound heterozygous autosomal recessive, and one X-linked. KMT2D variants (associated with Kabuki syndrome postnatally) occurred in two cases. Pathogenic variants were identified in 5/13 (38%) cases with multisystem anomalies, in 2/4 (50%) cases with fetal akinesia deformation sequence, and in 1/4 (25%) cases each with cardiac and brain anomalies and hydrops fetalis. No pathogenic variants were detected in fetuses with genitourinary (1), skeletal (1), or abdominal (1) abnormalities.ConclusionThis cohort demonstrates the clinical utility of molecular autopsy with ES to identify an underlying genetic cause in structurally abnormal fetuses/neonates. These molecular findings provided parents with an explanation of the developmental abnormality, delineated the recurrence risks, and assisted the management of subsequent pregnancies.     

Discrepancies in initial death certificate diagnoses in sudden unexpected out-of-hospital deaths: the role of cardiovascular autopsy

BACKGROUND: The accuracy of death certificates issued for out-of-hospital sudden deaths has been questioned. METHODS: We retrospectively studied a series of consecutive autopsies performed at two community hospitals. RESULTS: Fifty-four autopsies in which the deaths were sudden and that occurred outside the hospital were retained for study. The indication for autopsy was largely driven by the wishes of family or physician who was uncertain about the diagnosis. The overall discrepancy rate was 52%. The death certificate diagnosis, rendered before autopsy, was coronary artery disease in 44/54 autopsies (81%). At autopsy, coronary artery disease was the cause of death in 26 cases (48%), cardiomyopathy in 10 (18%), ruptured aneurysm in 8 (15%), pulmonary embolism in 7 (13%), and valve disease in 3 (6%). The diagnosis of coronary artery disease on the death certificate was accurate only 50% of the time. The discrepancy rate was lowest in patients with a history of cardiovascular disease (33%) and was 60% in patients with no prior medical history. The accuracy rate of death certificates was under one third in cases of cardiomyopathy, valve disease, ruptured aneurysm, pulmonary embolism, and valve disease. CONCLUSIONS: We conclude that in a highly selected group of sudden deaths, in which there was often a question about cause of death, the rate of initial death certificate accuracy is only one half. Furthermore, coronary artery disease as the cause of death is less than 50%, far less than initial death certificate diagnoses would indicate.     

产前超声诊断先天性心脏病合并心外畸形的应用及对优生优育的指导价值

目的探讨产前超声诊断应用于先天心脏病合并心外畸形的临床价值及对优生优育的指导价值。方法选取2017年5月~2018年5月于我院接受产前超声诊断结果异常的132例孕妇作为主要研究对象,所有孕妇均接受产前超声诊断,并产后随访6个月,分析其CHD及合并心外畸形的类型,以及产前超声诊断的临床价值。结果132例参与研究的孕妇中,随访成功108例,随访率为81.82%。随访成功的108例孕妇中,共检出24例CHD胎儿,产前超声诊断检出21例,诊断准确率为87.50%,漏诊率为12.50%。19例仅引产后尸体解剖检查证实为CHD,5例经出生后超声复查证实为CHD。24例CHD胎儿中,单纯先天性心脏病13例,其中4例完全性大动脉移位、3例左心发育不良、1例法洛四联症、5例完全性心内膜垫缺损,合并心外畸形11例,其中1例三尖瓣下移畸形合并肾积水,肺囊腺癌、7例室间隔缺损合并肾积水,内腔反位,脐膨出、1例法洛四联症合并羊水少,脊柱侧弯、1例永存左上腔静脉合并肾积水、1例右室双出口合并马蹄内翻足。对11例CHD合并心外畸形的胎儿进行随访,其中10例选择引产,1例室间隔缺损合并肾积水,内腔反位,脐膨出的孕妇选择继续妊娠,产后随访妊娠结果与产前超声诊断结果基本相同。结论产前超声诊断应用于先天性心脏病合并心外畸形胎儿的临床价值较高,且对优生优育具有一定的指导作用。     

The value of the perinatal and neonatal autopsy

The postmortem historically has been considered a valuable diagnostic exercise which contributes to medical knowledge. Despite this, there has been a significant reduction in autopsy rates throughout the developed world. This audit was a retrospective study of autopsy reports of stillbirths and neonates [corrected] greater than 500 grams over a five year period from 1995 to 1999. The audit was performed to assess the impact of autopsy on the current practice of perinatal medicine. The audit compared the final pathological diagnosis to the clinical diagnosis. The pathological diagnosis was categorised as (I) diagnostic, (II) confirmative, (III) unexplained. The recurrence risk estimates as a result of necropsy were also identified, as were any additional findings that were felt to be relevant but did not belong to any of the above categories. A total of 262 perinatal deaths (including stillbirths) and neonatal deaths greater than 500 grams birth weight were recorded during this period. The autopsy rate was 81%. The 213 autopsies performed were assessed, of which 76 (36%) were found to be diagnostic, 108 (51%) confirmatory, and 29 (13%) were unexplained or revealed no new findings. Change in recurrence risk estimates was identified in 24 (11%) and additional relevant information was obtained in 38 (18%). There were a number of cases where an unexpected diagnosis was made as a result of autopsy; these diagnoses included a respiratory chain disorder in a twenty nine week infant, and an occult necrotising enterocolitis presenting with severe haemolysis post transfusion in a preterm infant. The perinatal post mortem examination remains an indispensable part of clinical management. It contributes to medical education and quality assurance. It can aid in the identification of inheritable diseases and provide information for accurate parental counseling.     

应用Yagel式快速心脏检查法产前筛查先心病的价值研究

目的探讨Yagel式胎儿心脏快速扫描法在胎儿心脏产前诊断中的价值。方法病例选自2002年以来在中国医科大学附属盛京医院、沈阳市妇婴医院、大连妇产医院和锦州市妇婴医院就诊的孕妇7394例,均为单胎妊娠,其中先天性心脏畸形（CHD）高危患者1276例。应用Yagel5个心脏横面检查方法进行胎儿心脏快速检查,并对引产胎儿进行尸体解剖核对产前诊断的正确性;对产前诊断未发现明显异常胎儿进行临床随访,胎儿出生后进行新生儿或婴儿心脏超声检查,判定产前诊断的正确性。结果 1.7394例孕妇中,检查发现胎儿心脏结构异常为79例（1.07%）,其中31例（39.2%）患者来自于CHD高危人群。2.79例产前诊断为CHD患者中,72例选择了终止妊娠放弃胎儿,其中56例进行尸体解剖,其中1例患者病理诊断为永存动脉干畸形,产前诊断为法洛四联症;1例右心室双流出道,产前诊断为大动脉转位;1例为部分型肺静脉异位引流,产前诊断为左心发育不良;1例为主动脉缩窄,产前诊断为左心发育不良。3.79例产前诊断为CHD患者中,7例选择继续妊娠,其中室间隔缺损（VSD）3例,法洛四联症1例,永存动脉干1例,右心室占位病变（0.8cm×0.8cm）1例,轻度肺动脉狭窄伴三尖瓣返流1例。4.6118例产前诊断为正常胎儿心脏患者,新生儿或婴儿心脏超声检查发现室间隔缺损2例（0.03%）;动脉导管未闭2例;房间隔缺损1例;部分肺静脉异位引流1例,主动脉轻度狭窄1例,肺动脉轻度狭窄1例。5.应用Yagel胎儿心脏检查方法诊断胎儿心脏异常的敏感性为90.8%,特异性为100%。结论 1.Yagel式胎儿心脏快速扫描法是产前诊断胎儿心脏畸形的安全、简单和有效方法。2.对所有人群进行胎儿心脏结构产前检查,减少严重心脏病患儿的出生,具有重大的社会和经济意义。     

Etiologies of Parkinsonism in a Century‐Long Autopsy‐Based Cohort

We investigated the distribution of different etiologies underlying Parkinsonism in a hospital‐based autopsy collection, studied the demographic data and evaluated diagnostic accuracy using histopathological examination as the gold standard. Out of a total of 9359 consecutive autopsy cases collected between 1914 and 2010, we identified 261 individuals who carried a clinical diagnosis of a Parkinsonian syndrome at death. A detailed neuropathological examination revealed idiopathic Parkinson's disease (PD) in 62.2%, progressive supranuclear palsy (PSP) in 4.2%, multiple system atrophy (MSA) in 2.3%, corticobasal degeneration (CBD) in 1.2%, postencephalitic Parkinsonism (PEP) in 2.7%, vascular Parkinsonism (VaP) in 8.8% and Alzheimer‐type pathology (ATP) of the substantia nigra in 8%. The diagnostic accuracy of PD in our cohort was lower (71.2%) than those reported in previous studies, although it tended to increase during the last decades up to 85.7%. Of particular interest, we found that PD, while being the most frequent cause of Parkinsonism, was greatly overdiagnosed, with VaP and ATP being the most frequent confounding conditions.     

The autopsy: A useful tool or an old relic?

In a combined retrospective and prospective study, clinical and autopsy data were collected to assess the changes in autopsy rate in recent years, the attitudes of clinicians and pathologists to the autopsy, and the accuracy of ante-mortem diagnosis when compared with autopsy findings. Between 1962 and 1986, the total autopsy rate for hospital patients remained relatively constant, with an increase in Coroner's and a decrease in the hospital autopsy rate. Analysis of 5064 deaths over a 6-year period showed a significantly greater number of males than females coming to autopsy and a decrease in autopsy rate with age for both sexes. Attitudes to the autopsy were assessed using a questionnaire. The majority of clinicians considered the autopsy to be an important investigation despite new diagnostic techniques and confirmed its value in teaching and research. Seventy-seven per cent agreed that autopsy findings occasionally led to modification of the treatment of subsequent patients with the same condition. Pathologists disagreed that the autopsy is outdated in its present form and considered that not enough hospital autopsies are being requested. They also upheld its use and value in education. The cause of death as given by clinicians for a group of 60 patients was inaccurate in 12 cases.     

Clinical and pathological disagreement upon the cause of death in a teaching hospital: analysis of 100 autopsy cases in a prospective study

The aim of the present study was to analyze the concordance between clinical and autopsy diagnoses. For this purpose, 100 patients submitted to autopsy from July 2000 to April 2001 were studied prospectively. In all cases, clinicians gave the immediate and the underlying causes of death for patients dying under their care. The diagnoses were compared to the macroscopic autopsy diagnoses. Cohen's kappa coefficient of agreement was estimated. Sixty-four men and 36 women were submitted to autopsy. The most frequent pathological diagnosis of underlying cause of death were diseases of the circulatory system (35%), infections and parasitic diseases (20%) and diseases of the digestive system (11%). The kappa coefficient for immediate cause of death was 0.40 (95% confidence interval (CI): 0.29–0.50); for underlying cause it was 0.38 (95%CI: 0.18–0.44), and for basic cause codified by group according to ICD-10 it was 0.55 (95%CI: 0.44–0.67). Major disagreement occurred in 10 cases involving pathological causes of death as circulatory diseases, in which the clinicians diagnosed a digestive system disease as the cause of death ( n  = 5), or infectious and parasitic diseases ( n  = 5). The present study shows that agreement between clinical and pathological causes of death are moderate, proving that the autopsy is still a very important procedure.     

Pathologists in a teaching institution assess the value of the autopsy

CONTEXT: With the advent of modern diagnostic technology, use of the autopsy as a means of assessing diagnostic accuracy has declined precipitously. Interestingly, during the same period, the rate of misdiagnosis found at autopsy has not changed. OBJECTIVES: To ascertain why an autopsy was requested, whether or not questions asked by clinicians were specifically addressed, and what types of misdiagnoses were found. DESIGN: One hundred forty-two consecutive autopsy records from the University of Arkansas for Medical Sciences Hospital were reviewed. In the same period, 715 deaths occurred, giving an overall autopsy rate of 20.14%. RESULTS: Of the 125 autopsies in which the problem-oriented autopsy request was available for review, a reason for the autopsy was given in only 69 cases (55%). One hundred three clinical questions were asked, and of these, 81 were specifically addressed in the final anatomic diagnosis, 10 were addressed in some part of the autopsy report but not in the final anatomic diagnosis, 10 were not addressed at all, and 2 could not be answered by the autopsy. Sixty-one autopsies revealed 81 misdiagnoses: 47 class I (missed major diagnosis that, if detected before death, could have led to a change in management that might have resulted in cure or prolonged survival) and 34 class II misdiagnoses (missed major diagnosis in which antemortem detection would have not led to a change in management). CONCLUSIONS: The autopsy continues to be a vital part of medical education and quality assurance. It is important for the clinician to provide a clinical summary and specific clinical questions to be addressed or to speak directly with the pathologist and for the pathologist to provide answers that are easily accessible within the autopsy report. In this way, a problem-oriented autopsy can be performed based on questions raised by the clinician and the pathologist as a result of the gross dissection and microscopic evaluation.     

Concordance between premortem and postmortem diagnosis in the autopsy: results of a 10-year study in a tertiary care center

We describe the concordance between clinical diagnoses and autopsy findings in a tertiary care center. Clinical autopsy is a useful tool for the evaluation of accuracy of the clinical diagnoses. However, autopsy rates have declined around the world recently. We randomly evaluated 500 of 2,211 autopsies performed in the department of pathology of a tertiary care hospital during a 10-year period. We computed the sensitivity, specificity, predictive values, and concordance scores between premortem and postmortem diagnoses. The autopsy diagnoses were used as the "gold standard." Four-hundred twenty-two (84.4%) of the autopsies met inclusion criteria. Diseases of the respiratory tract were diagnosed in 44.1% (186) of all autopsy reports reviewed. The higher sensitivity for diagnosis was observed in congenital anomalies (87.5%), while the higher specificity was observed in diagnosis of complications of pregnancy, childbirth, and the puerperium (98.98%). The higher concordance between premortem and postmortem diagnosis was observed with the diagnoses of neoplasms (kappa = 0.76), and for the group of complications of pregnancy, childbirth, and the puerperium (kappa = 0.76). A clinical diagnosis successfully addressed the cause of death in 40% of the cases Low values for concordance between autopsy reports and clinical diagnoses were present in most of the autopsies reports reviewed. We encourage physicians to continue considering the autopsy as an important tool that extends our understanding of diseases.     

The role of the autopsy in medical malpractice cases,I: a review of 99 appeals court decisions

CONTEXT: Fear that damaging information from autopsy may be introduced as evidence in lawsuits alleging medical malpractice is often cited as one factor contributing to the decline in autopsy rates. OBJECTIVE: To determine how autopsy information influences the outcome of medical malpractice litigation. DESIGN: We studied state court records in 99 cases of medical malpractice adjudicated from 1970 to the present to assess the role of information from autopsies in the outcomes. RESULTS: The 3 largest groups defined by cause of death at autopsy were acute pulmonary embolism, acute cardiovascular disease, and drug overdose/interaction. Findings for defendant physicians outnumbered medical negligence in the original trial proceedings by a 3:1 margin. The appellate courts affirmed 51 acquittals and 19 findings of negligence, and reversed the original trial court decision in 29 cases for technical reasons. We found no significant relationship between accuracy of clinical diagnosis (using the autopsy standard) and outcome of a suit charging medical negligence. Even when a major discrepancy existed between the autopsy diagnosis and the clinical diagnosis, and the unrecognized condition was deemed treatable, defendant physicians were usually exonerated. Moreover, major diagnostic discrepancies were relatively uncommon in suits in which a physician was found to be negligent. Conversely, in about 20% of cases, autopsy findings were helpful to defendant physicians. CONCLUSIONS: Our study confirms that a finding of medical negligence is based on standard-of-care issues rather than accuracy of clinical diagnosis. Autopsy findings may appear to be neutral or favorable to either the plaintiff or the defendant, but are typically not the crux of a successful legal argument for either side in a malpractice action. We conclude that fear of autopsy findings has no rational basis and is an important obstacle to uninhibited outcomes analysis.     

Early diagnostic accuracy and pathophysiologic relevance of an autopsy-confirmed Alzheimer's disease peripheral biomarker

Treatment of Alzheimer's disease (AD) and the discovery of promising drug candidates depend on early diagnosis. Few currently available diagnostic tests have significantly improved this early uncertainty, while the "gold standard" diagnosis continues to require clinical dementia in life and the presence of pathologic brain lesions of amyloid plaques and neurofibrillary tangles in the brain at autopsy. Here, the inflammatory agonist bradykinin, a small nano-peptide, that induces PKC-mediated phosphorylation of Erk1 and Erk2 in fibroblasts, was applied to punch-biopsy-obtained human skin fibroblasts. Quantitative imaging of the phosphorylated Erk1 and Erk2 bands was then used in a ratio that is mathematically configured into an AD-Biomarker Index (AD-Index). In the population described here (N=264), there were 64 autopsy examinations. Demented individuals were clinically diagnosed as AD with an overall accuracy of 78%. Among the 42 autopsy-confirmed cases for which there were also AD-Biomarker measurements, the overall accuracy of the AD-Biomarker was 98%. Among both the autopsy-confirmed and the clinically diagnosed patients, the AD-Index values were inversely correlated with the duration of disease, i.e., the time from the onset of dementia symptoms. Among the autopsy-confirmed cases, the AD-Biomarker diagnosis showed remarkably high sensitivity (97%) and specificity (100%) compared to clinical diagnosis (sensitivity: 78% and specificity: 20%). Using autopsy validation, the clinical diagnosis was only accurate at 52% level vs. the AD-Biomarker accuracy of 100% for cases with dementia not larger than 4 years of duration. Finally, application of soluble Abeta(1-42) to the fibroblasts of normal controls induced the abnormal AD-Biomarker phenotype, suggesting the pathophysiologic relevance of this AD-Biomarker measurement. In summary, the AD-Biomarker, as confirmed by autopsy validation, showed significantly higher sensitivity and specificity than did clinical diagnosis, particularly at early stages of disease, and pathophysiological relevance was demonstrated for the mechanistic basis of the AD-Biomarker measurements.     

Autopsy and the internal medicine department.

The accuracy of major clinical diagnoses and causes of death was estimated from the analysis of clinical diagnoses and autopsy findings of patients deceased at the internal medicine department of a large university hospital in two different periods (1965-1967 and 1985-1987). The autopsy cases from the second period were subdivided in two groups i.e. less and more than seven days of hospital stay prior death. From 100 randomly selected autopsy cases in each period there was no statistically significant variability in clinico-pathological concordance. In three groups studied (1965-1967, 1985-1987 < seven days and 1985-1987 < seven days hospital stay) the major clinical diagnosis was confirmed in 85, 94 and 86% respectively. A decrease of nearly 27% in the number of autopsies performed is shown between analysed periods. Clinico-pathological conferences are regularly held weekly, this being one of the reasons for a stable and extremely high clinico-pathological concordance.     

The autopsy as a performance measurement tool--diagnostic discrepancies and unresolved clinical questions: a College of American Pathologists Q-Probes study of 2479 autopsies from 248 institutions

OBJECTIVE: To develop a multi-institutional reference database for quality improvement purposes using the autopsy to define clinical diagnostic discrepancies and resolve clinical questions. DESIGN: Using the College of American Pathologists Q-Probes format, institutions prospectively assessed a maximum of 15 consecutive autopsies each, excluding forensic cases and stillborn infants, conducted over a 6-month period. They documented answers to clinical questions provided at autopsy and classified unexpected disease diagnoses according to a standardized system. SETTING AND PARTICIPANTS: Hospital-based autopsies performed at 248 institutions participating in the 1993 College of American Pathologists Q-Probes Quality Improvement Program. MAIN OUTCOME MEASURES: Percentages of clinical questions resolved by the autopsy and percentage of autopsies with unexpected findings of graded clinical impact. RESULTS: In the aggregate database of 6427 questions from 2479 autopsies, overall 93.0% were answered by the autopsy. The 3 most common question categories were (1) identify pathology to account for clinical signs or symptoms (28.0%); (2) establish the cause of death (21.0%); and (3) confirm a clinical diagnosis (19.0%). At least one major unexpected disease finding that contributed to the patient's death was discovered in 39.7% of the total number of autopsies. There were no differences in the percentages of autopsies with these major unexpected findings when the data were stratified by institutional demographics or decedent characteristics. CONCLUSION: This multi-institutional study underscores the clinical relevance of postmortem examination in current medical practice by consistently providing answers to unresolved clinical questions and frequently revealing major unexpected findings that contributed to the patient's death. It is our strong belief that this postmortem-derived clinicopathologic information is a key indicator of effectiveness of care. Integration of this information into institutional quality improvement programs will improve system processes and clinician performance.     

胎儿先天性心脏畸形产前遗传学研究

目的 评估胎儿先天性心脏病(congenital heart diseases,CHD)遗传学异常情况,为孕期管理和遗传咨询提供依据.方法 对产前超声检查发现为先天性心脏畸形的胎儿共81例,采用绒毛活检/羊膜腔穿刺/脐静脉穿刺获取胎儿细胞,进行细胞培养染色体分析;对显带分析无染色体异常胎儿,采用短串联重复标记结合多重荧光定量PCR技术,检测其22q11.2区域微缺失和微重复情况,异常胎儿再用荧光原位杂交技术证实.结果 81例先天性心脏畸形胎儿,发现染色体异常34例,22q11.2微重复1例,总异常发现率为43.2%;合并心外畸形胎儿染色体异常率高于单纯心脏畸形胎儿(64.5%vs.28.0%).染色体异常中,18三体有19例,占染色体异常病例的54.3%.结论 先天性心脏畸形的胎儿染色体异常率高,尤以18三体最为常见;如合并心外畸形,染色体异常概率明显增加;对显带分析染色体正常胎儿则需进行22q11.2区域微缺失和微重复检测.先天性心脏畸形胎儿的遗传学检测有助于孕期管理和遗传咨询.