My approach to performing a perinatal or neonatal autopsy

An opportunity to determine the cause of death, factors that may have a role in it, and the extent and cause of malformations is provided by perinatal autopsy. The family may be assisted in finding closure after the death of their infant by the information obtained. Insight into classifying infants appearing normal into one of three groups, small, appropriate and large for gestational age, has been provided, as each group tends to have specific causes of death. In infants with congenital anomalies, patterns of malformation may lead us to the diagnosis. An accurate diagnosis is required to provide counselling for a subsequent pregnancy.     

Morphological findings and value of placental examination at fetal and perinatal autopsy

The purpose of this study was to report on the morphological findings in placentae from abortions, stillbirths and perinatal deaths, and to assess the value of the results of the placental examinations. The material included 341 placentae and their matched autopsies. Fifty placentae came from abortions induced for medical reasons, 194 from spontaneous abortions, 84 from stillbirths, and 13 from livebirths. Histological slides from all placentae were reviewed and the placental diagnoses were related to the autopsy diagnoses. Frequently observed placental lesions were inflammation of the membranes and/or umbilical cord, placental edema, vascular lesions, single umbilical artery, and degenerative lesions. The placental examination in pregnancies terminating with fetal or perinatal death was of value in half the cases. Some placental lesions provide us with clues when assessing the cause of fetal death, but such lesions are rare. Two important groups of lesions, acute inflammation of the membranes and/or umbilical cord and lesions consistent with uteroplacental vascular insufficiency, seen mainly as infarction and decidual arteriopathy, were observed. Gross examination is informative, though microscopic examination is often necessary.     

The perinatal autopsy: a contemporary approach.

As autopsy rates in general hospitals decline, interest in the perinatal autopsy continues to rise, reflecting the emergence of a vigorous specialty growing in parallel with fetal medicine, prenatal diagnosis and clinical genetics. Perinatal autopsies are best carried out in tertiary centres which provide these services. Meticulous documentation, flexibility of technique, intelligent use of laboratory tests and wide systematic histopathologic sampling are emphasized. Microbiologic examination is of particular value when carried out by a laboratory having a special interest in genital tract and perinatal pathogens. Karyotyping must be selective if resources are to be conserved and is most productive when there are multiple malformations. Perinatal autopsy is not complete without examination of the placenta and significant lesions should be clearly distinguished from curiosities and from changes secondary to fetal death. The pathologist's wider contribution to perinatal medicine includes providing high quality data to epidemiology units and auditing committees, contributing to the multidisciplinary management of prenatally diagnosed fetal abnormalities, monitoring iatrogenic disease patterns and supporting the process of perinatal grief management. Special problems and diagnostic challenges are to be found when investigating sudden, unexplained intrauterine fetal death, hydrops, bone dysplasias and complicated multiple pregnancies.     

Epidemic perinatal listeriosis at autopsy

Seven cases of listeriosis identified at perinatal autopsy are described. The cases occurred during the time of a 1985 Los Angeles, California, epidemic of listeriosis from suspected food contamination by Listeria monocytogenes. In only one of seven cases were gross pathologic lesions encountered. Microscopic lesions in six cases consisted of rare, localized microabscesses or granuloma-like lesions in multiple organs and contained histiocytes, monocytes, lymphocytes, and polymorphonuclear leukocytes with variable necrosis. One case had no gross or microscopic findings. Organomegaly was uncommon. The diagnosis was confirmed in three cases by postmortem blood culture. Complete perinatal autopsy is important for confirmation of listeriosis when microbiologic, gross, or microscopic findings alone may not yield characteristic features.     

高危儿新生儿围产期预后及1068例分析

目的探讨围产期保健及围产高危儿监护重点,提高优生优育水平。方法对来源于2007.1-2007.12本院分娩的转入新生儿病房的高危新生儿资料进行统计,分析围产期高危因素构成比及高危新生儿围产期并发症、临床转归。结果1068例高危儿中母亲因素占17.38%例次,胎儿及新生儿因素占75.99%例次,胎盘、脐带因素占6.63%例次;在母亲因素中妊娠期高血压、糖尿病为主要高危因素。新生儿窒息及其并发症占围产高危儿疾病构成的11.11%,位于早产儿及并发症(33.13%)、病理性黄疸(24.72%)、先天性畸形(20.22%)之后,占第4位,为新生儿期主要疾病;但新生儿窒息已不再成为新生儿死亡的主要病因,早产,特别是其呼吸系统并发症为第一死因,先天畸形已上升为第二死因。结论早产儿管理、先天畸形防治是本地区围产期医疗、保健重点,规范围产期管理可改善新生儿预后。     

The role of perinatal autopsy in the management of pregnancies with major fetal trisomies

We assessed the value of perinatal autopsy following mid-trimester termination of pregnancy due to major fetal trisomies. Singleton fetuses (n=305) that underwent prenatal sonography and karyotyping during the second trimester of pregnancy and that had trisomy 21, trisomy 18, or trisomy 13 constituted the study population. The findings of second trimester sonography and fetal autopsy were compared. Altogether, 611 separate major structural malformations were diagnosed during autopsy. Full agreement was achieved between sonography and autopsy in 35.8% of the malformations. The additional findings at autopsy (64.2%) involved mainly two organ systems: face, including ears and eyes, and extremities, including hands and feet. Some ultrasound findings were not confirmed at autopsy (n=49). Concordance rates between sonography and autopsy findings regarding soft markers were considerably high in cases of increased nuchal fold thickness and short femur/humerus. On the other hand, fetal autopsy was of limited value as far as hyperechoic bowel and echogenic intracardiac foci are concerned. Pathologic examination provides additional information regarding many fetuses with aneuploidy, and may indicate possible directions of sonographic screening for major chromosome aberrations. However, prenatal sonography and perinatal autopsy should be considered as complementary ways of increasing our knowledge about the possible features of fetal aneuploidies.     

Quantitative standards for fetal and neonatal autopsy

Growth curves are essential for determining whether growth parameters lie within normal ranges. In the case of fetal and neonatal autopsy, relevant data are scattered across many publications, and few sources examine a large enough sample to be considered definitive. To ameliorate these inadequacies, regressions were created incorporating data from multiple sources both to increase accuracy and to condense available data into a single standard. When measurements were not well studied, the best available published standards are given. These regressions provide a valuable tool for clinicians who need to understand the significance of measurements obtained during autopsy.     

The value of autopsy in pediatric cardiology and cardiovascular surgery

Autopsy has been considered extremely helpful in determining the accuracy of the premorbid diagnosis. With recent advances in diagnostic imaging, the value of the autopsy has been called into question. The aim of this study was to assess the value of the pediatric autopsy in the current era of advanced diagnostic technology and sophisticated surgical intervention for congenital heart disease (CHD) and also to determine the autopsy's potential impact on clinical management. We compared the data from the postmortem examination of 29 children with CHD with the data obtained before death and evaluated for the accuracy of the diagnosis of the cardiac anatomy as well as the cause of death. The diagnosis of the anatomy was confirmed in 13 cases (45%), additional cardiovascular abnormalities with potential clinical impact were found in 11 cases (38%), and additional abnormalities without clinical impact were found in 5 cases (17%). The cause of death was confirmed in 15 cases (52%), determined by autopsy in 12 cases (41%), and uncertain in 2 cases (7%). We conclude that the pediatric autopsy continues to provide clinically relevant information with a potential impact on patient management and to reveal unexpected causes of death in a significant proportion of patients with CHD.     

An autopsy case of neonatal lactic acidosis

Defects in mitochondrial enzymes, such as pyruvate dehydrogenase and cytochrome oxidase, cause hereditary disorders which lead to modifications in cellular pH due to the accumulation of pyruvate and lactic acid. Mitochondrial diseases include severe neonatal diseases and less severe forms of adult diseases. We report the case of lactic acidosis in a newborn girl who was delivered at 36 weeks of gestation and who died 3 months after birth. Her family history revealed a relative with tetraparesis and mental retardation. Her clinical findings, such as tonic-clonic convulsions and accumulation of pyruvate and lactic acid in blood, urine and cerebrospinal fluid, were refractory to treatment and developed soon after birth. Ultrasound scans of the brain some days before death revealed cerebral atrophy with ventricular dilatation and thinning of the corpus callosum and septum pellucidum. The clinical diagnosis of metabolic lactic acidosis was confirmed by macroscopic, microscopic and ultrastructural findings seen at autopsy. On macroscopic examination, the heart was hypertrophic, and the brain was atrophic with ventricular dilatation and thinning of corpus callosum. Small cystic lesions were present in the basal ganglia. On microscopic examination, the latter were characterized by loss of neurons, gliosis and capillary proliferation. Ultrastructural examination of the heart and skeletal muscle showed lysis of myofibrils, mitochondrial pleomorphism and hyperplasia, and crystalline inclusion in mitochondria and in the matrix compartment. In reporting this case, we emphasize the importance of accurate postmortem examination and clinical data for the diagnosis of metabolic lactic acidosis.     

Ureaplasma-associated prenatal,perinatal, and neonatal morbidities

Introduction: Ureaplasma species (spp.) have been acknowledged as major causative pathogens in chorioamnionitis and prematurity, but may also contribute to key morbidities in preterm infants. Several epidemiological and experimental data indicate an association of neonatal Ureaplasma colonization and/or infection with bronchopulmonary dysplasia. Furthermore, a potential causal relation with other inflammation-induced morbidities, such as intraventricular hemorrhage, white matter injury, necrotizing enterocolitis, and retinopathy of prematurity, has been debated.

Areas covered: This review will summarize current knowledge on the role of Ureaplasma spp. in prenatal, perinatal, and neonatal morbidities, while furthermore examining mutual underlying mechanisms. We try to elaborate who is at particular risk of Ureaplasma-induced inflammation and subsequent secondary morbidities.

Expert commentary: Most likely by complex interactions with immunological processes, Ureaplasma spp. can induce pro-inflammation, but may also downregulate the immune system. Tissue damage, possibly causing the above mentioned complications, is likely to result from both ways: either directly cytokine-associated, or due to a higher host vulnerability to secondary impact factors. These events are very likely to begin in prenatal stages, with the most immature preterm infants being most susceptible and at highest risk.     

Diaphragmatic contraction band necrosis in a perinatal and infantile autopsy population.

A morphologic study of the anterolateral costal diaphragm in 125 newborns and infants who died suddenly showed that contraction band necrosis is a common finding. In cases that showed the most extensive lesions, acute asphyxia was the usual mode of death; within eight diagnostic categories birth asphyxia (11 of 26 cases) and sudden infant death syndrome (19 of 30 cases) had the highest frequency of lesions. It was more frequent than myocardial contraction band necrosis and myocardial coagulation necrosis among the cases studied. The morphologic age and, if present, the stage of healing in each case suggested that the diaphragmatic lesion commenced at or shortly before death or at the time of the cardiac arrest that led to death. Thus, the lesion appeared to represent a very early event after a lethal injury, but it had no specificity for the nature of the injury. Because skeletal muscle of the respiratory diaphragm structurally and functionally resembles myocardium, the pathogenesis of contraction band necrosis may be similar in the two muscle types.     

Neural tube defects and associated anomalies in a fetal and perinatal autopsy series

Neural tube defects (NTDs) are congenital malformations of the central nervous system (CNS) secondary to abnormal closure of the neural tube during embryonic development. This study provides information on NTD rate, distribution, associated morphologic anomalies and organ weights in a Danish fetal and perinatal autopsy series during a 16 year period. The data were extracted from the autopsy reports of a consecutive series of 1984 fetal and perinatal autopsies from the Copenhagen area performed in the period 1989-2004. Registered parameters included: The location and morphology of the NTD, associated morphological anomalies, and organ weights. Organ weights were evaluated according to new fetal autopsy standards and grouped as low, normal or high. Ninety-seven NTD cases were found (4.9%): Spina bifida (38 cases), cephalocele (17 cases) and anencephaly (42 cases). 63% of NTD cases had associated morphologic anomalies. Among the most common were hydrocephalus, NTD in another region, and anomalies in the urogenital system. 58% of the NTD cases had abnormal weight of one or more organs. Most notable was low adrenal weight not only in anencephalic fetuses but also in cases with cephalocele, suggesting a possible association.     

先天性室管膜母细胞瘤尸检分析并文献复习

目的探讨先天性室管膜母细胞瘤的临床及组织病理学特征。方法对1例经尸检诊断的先天性室管膜母细胞瘤的组织病理学、免疫组织化学、超微结构以及DNA倍体情况进行研究,并结合文献复习。结果孕中经B超发现的颅内肿瘤,经尸检确定位于左颞叶近侧脑室后角处,直径约3.5 cm。肿瘤细胞胞核致密浓染,胞质少,密集成团形成具有复层细胞和近腔处活跃核分裂特征的菊形团。免疫组化结果示肿瘤细胞vim entin阳性,GFAP少数阳性。结论室管膜母细胞瘤是一种极少见的神经上皮胚胎性肿瘤,具有特征性的“室管膜母细胞瘤”菊形团结构。肿瘤主要位于幕上,好发于婴幼儿,具有高度侵袭性,预后极差。     

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.