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Bundock EA, Corey TS, Andrew TA, et al., editors. Unexplained Pediatric Deaths: Investigation, Certification, and Family Needs [Internet]. San Diego (CA): Academic Forensic Pathology International; 2019.
MOSS
“Moss was 14 months old and our first and only child at the time of his death. Moss greeted every stranger with a smile and had a way of making every person he encountered feel loved and special. He loved music and going for walks in his blue car or wagon.
We found Moss unresponsive during a nap. EMS was able to get his heart restarted and he received great care while on life support for 36 hours. However, after he died and it came time to leave the hospital, we felt utterly alone. We were in shock and confused, and no one walked us out or said goodbye. We even got lost in the hospital trying to find our way out. No one mentioned SUDC or guided us to the support of the SUDC Foundation.”
– Moss’s Mom and Dad
OUTLINE.
The autopsy, a centuries-old scientific and medical tool, has undergone extensive evolution and refinement, but even as we near the end of the first quarter of the twenty-first century, forensic pathologists are hard-pressed to cite authoritative guidelines or standards for a “complete autopsy.” This conundrum exists for autopsies in general and certainly for autopsies of infants and young children. It is axiomatic in all of medicine (forensic pathology no exception), that infants and young children are not “miniature adults.” The differential diagnoses entertained in a sudden, unexpected pediatric death differ substantially from those considered when an adult suddenly dies. The autopsy of an infant or child will likewise focus on, and emphasize, procedures, techniques, and diagnostic tests that are significantly different from those used during autopsy evaluation of sudden death in an adult.
The National Association of Medical Examiners (NAME) has promulgated minimal acceptable autopsy performance standards (1), but is silent on the specifics of the pediatric autopsy. Standard B3.2 states that an autopsy shall be performed in cases of unexpected and unexplained death in infants and young children. Standard B4, dealing with forensic autopsy performance, does not address pediatric autopsies at all. Pediatric autopsy standards have been proposed in the past. As far back as 1976, Jones and Weston fashioned an infant autopsy protocol (2) under the auspices of the American Academy of Forensic Sciences, that, by today’s measures appears both cumbersome and dated. The state of California legislated an autopsy protocol (promulgated in 1991) for cases of sudden unexpected infant death, with limited success in achieving autopsy standardization. Histopathology Atlas for the Sudden Infant Death Syndrome published by the Armed Forces Institute of Pathology in 1993 also included a protocol for autopsy procedures and ancillary testing (3). In 1995, an autopsy protocol was released by the International Standardized Autopsy Protocol Committee of the Global Strategy Task Force, under the leadership of Chair, Henry Krous (4). Its manual, Instruction and Reference Manual for the International Standardized Autopsy Protocol for Sudden Unexpected Infant Death, is a 44-page document that remains infrequently referenced.
Few, if any, would dispute the need for a thorough, competent forensic autopsy after the unexpected death of an infant or young child. As noted previously, there are differences between the adult and pediatric forensic autopsy. Similarly, there are conceptual, procedural, and practical diagnostic differences in the autopsies performed on infants vs. autopsies performed on young children. One difference – the literature suggests that an etiology is more likely to be identified for young children who have died suddenly and unexpectedly vs. infants who suffered similar deaths (5). The following discussion will center on the differences between autopsies on children and infants and offer procedural guidance.
Perhaps the question of what constitutes a “complete autopsy” in this setting is unanswerable, but most practicing forensic pathologists have some idea of how they, personally, would answer the question. That answer is likely to reflect the overarching philosophy of their agency or institution and those who allocate its resources. All would acknowledge that the forensic autopsy begins at the scene. The scene-centered aspects of the forensic autopsy: the process of gathering information about the death scene and the child’s/family’s activities surrounding the death, the steps in taking a medical and family history, use of infant-or child-specific sudden, unexpected death reporting forms, the process of conducting a doll reenactment, and the key elements of medical records review are addressed in detail elsewhere in this volume.
Once in the autopsy suite the following is likely to (or should) occur: 1) documentation of the body as it is received, 2) disrobing and removal of medical devices with a thorough external inspection, and 3) detailed external examination of externally observed deviations from normal, including any injuries. Each of these steps is typically documented in a dictated report and by use of photography and diagrammatic representations. Prior to internal examination, a radiographic skeletal survey is performed. A nasal swab for viral pathogens is often obtained.
During examination, specimens are procured for histology and ancillary studies. In the autopsy of sudden, unexpected pediatric deaths, the extent of histological evaluation and the scope of ancillary studies varies from institution to institution. The essential question to answer is, “What additional information is needed to advance the differential diagnosis in these cases?” (6, 7).
A brief discussion regarding the value and current knowledge base on specific dissections, examinations and/or techniques, radiological imaging, histology, microbiology, toxicology, vitreous electrolytes, metabolic screening, genetic/molecular biological testing, and other ancillary testing is presented below. Some of these issues are addressed in more detail elsewhere in this publication.
Arnestad and colleagues analyzed the diagnostic yield of various postmortem studies in 309 cases of sudden, unexpected death of children between 0 and 3 years of age over a 15-year period (8). They found histology, neuropathology, and microbiology were most useful in diagnosing causes of deaths due to disease, while scene investigation and gross pathological findings at autopsy most often revealed the cause of death in accidents and cases of neglect/abuse and homicide. Mitchell et al. analyzed the diagnostic utility of the forensic autopsy in 60 cases of sudden unexpected infant death from 1994–98 and reported positive findings in 3% of scene investigations, 3% of external examinations, 18% of radiological examinations, 13% of internal examinations, 12% of histological examinations and 5% of microbiological examinations (9). Positive findings did not always translate into diagnostic findings as five of the 15 cases with positive findings were still certified as undetermined cause of death. Scene investigation was useful in the determination of asphyxia, and autopsy was most useful, in this series, for infectious causes or undiagnosed congenital cardiac lesions. It should be noted this study was undertaken in an era prior to readily available molecular genetic studies.
Measurements of body dimensions and organ weights are a routine part of the infant autopsy, but their diagnostic significance in the face of an otherwise “negative” autopsy remains unclear. Little et al. reported an increase of brain, heart, liver, and kidney weight relative to total body weight suggesting “a disturbance of normal patterns of vital organ size of SIDS victims that is of unknown etiology” (10). This stands in contrast to the 2009 Fracasso et al. study which compared organ weights from 209 male and 132 female sudden infant death syndrome cases to previously published normal infant organ weights (11). Heart weights were also compared to 47 controls who died from a variety of natural and nonnatural causes. The authors concluded that SUID organ weights, “can be used as norms in the first year of life.” Yet another consideration is the reliability of currently used normal organ weight standards and the possible need to update the standards with a modern cohort as several studies have attempted to accomplish, with associated published new reference tables for organ weights (12–15).
Many forensic pathologists rely on reference weights in textbooks, including Pediatric Pathology by Stocker and Dehner (16), which includes several useful appendices with weights and measures. Fetal and infant heart weights and measurements can also be found in Gilbert-Barness and Debich-Spicer’s Handbook of Pediatric Autopsy Pathology (17).
Proper neuropathology evaluation in sudden infant and child deaths is discussed in detail elsewhere in this volume, and various protocols have been published (18). Neuropathologic microscopic findings rarely translate into causes of death in macroscopically normal brains in the absence of a neurological history (19). However, the experience of the authors of this section is that viral encephalitis has been identified in infants and young children with viral prodromes without neurologic symptoms.
Full body radiographs are typically performed postmortem in infant and young child autopsy cases, to identify previously unrecognized skeletal trauma. It is critical that these skeletal surveys be performed expeditiously to identify previously unsuspected child abuse so that the investigation may begin promptly (20). Skeletal surveys typically include a series of radiographs that encompasses the entire skeleton of the infant or young child. According to guidelines set forth by the American College of Radiology and the Society for Pediatric Radiology, the surveys should be performed by technologists with training and experience in pediatric imaging and be interpreted by a radiologist (21). Radiography may reveal many skeletal and soft-tissue findings, but in the realm of pulmonary pathology, has poor agreement with autopsy findings (22). Sophisticated imaging modalities such as computed tomography and magnetic resonance imaging (MRI) can supplement a full autopsy in this population. Computed tomography scans may help find nonaccidental injuries that are not readily identified at autopsy or on plain radiographs, as well as help an examiner decide if there was nonaccidental trauma to the child prior to the examination (22, 23). Postmortem MRI may help target the examination of a child and can provide evidence of hypoxic changes in the brain that are not grossly identifiable (24). Additionally, dedicated postmortem MRI of the heart and brain may aid in determining the cause of sudden death in children, particularly in situations where a conventional autopsy cannot be performed for cultural or personal reasons (25).
Despite the relatively routine use of comprehensive histological evaluations, specific diagnostic yield remains low. Liebrechts-Akkerman et al. published their experience with 187 cases from 1985–2004 (26). Just over 10% of histological examinations were diagnostic, and nonspecific histopathological findings were common (17–66%). Based on retrospective review of 510 sudden unexpected infant deaths, Weber et al. propose a more limited approach to histological testing (lung, heart, liver, kidneys only) in that “significant histological abnormalities may be detected in selected organs with macroscopically normal appearances,” and because histopathology, “in the absence of specific clinical history or macroscopic abnormalities, has a low yield for establishing cause of death” (27). This “low yield” of course does not negate the diagnostic importance in the few cases in which the cause of death was identified solely by histologic examination.
The diagnostic value of the results of a postmortem blood culture absent any clinicopathological correlation has long been questioned. A related issue is the interpretation of microbiological data in an otherwise negative autopsy. Ottoviani and Bergui stress that the underlying cause of sudden infant death, whether it be a neurodevelopmental abnormality or cardiac conduction defect may be concomitant with other infant pathologies, such as infection, the latter being a triggering phenomenon in particularly vulnerable infants (28). In other words, an infant with an underlying vulnerability like a cardiac conduction defect is apparently healthy until s/he encounters a triggering phenomenon (e.g., an infection) and dies; the infants died with the phenomenon (e.g., infection) rather than because of it. Microbiology and infectious disease are discussed in detail elsewhere in this volume.
Toxicological screening is routinely used in the forensic setting and the investigation of sudden unexpected pediatric death is no exception. While the diagnostic yield is relatively low, toxicology is not likely to be cost prohibitive, given the small number of cases in any given year in a particular jurisdiction. Langlois et al. published their experience with 117 cases in 2002 (29). Drugs were detected in 19%. In three cases (2.5%) toxicology findings were deemed causative of or contributory to death. It is important that toxicologic testing in pediatric cases include screens for over-the-counter medicines, rather than the less-comprehensive “drugs of abuse” panels often performed in cases of adult death.
Nicotine and cotinine are commonly reported in routine toxicology screens. Typically, the presence of nicotine and cotinine is of no specific diagnostic significance, and thus, routine analysis cannot be recommended as a best practice; however, the analyses may yield interesting epidemiological information. For example, a German study of 100 sudden unexplained infant deaths utilized nicotine concentrations in hair as a marker of longstanding exposure to tobacco, and cotinine concentrations in pericardial fluid and cerebrospinal fluid as markers of recent exposure to tobacco (in the last few hours of life) (30). By comparing the hair-nicotine and pericardial fluid-cotinine levels with data on parental smoking, Bajanowski and colleagues were able to determine that nicotine intake by passive smoking is much more important than nicotine intake via breastfeeding (30).
Vitreous fluid represents a sterile, compartmentalized specimen used for postmortem evaluation of electrolytes and glucose. Blood is not an acceptable specimen for electrolyte testing due to postmortem lysis of erythrocytes. Evaluation of electrolytes is important in infant deaths, as dehydration, hyponatremia from excess water intake, and other derangements may be identified.
Screening of blood and/or bile for inborn errors of metabolism is widely available, and has been commonly performed in unexpected pediatric deaths since the 1990s. A study of 397 blood and 268 bile samples by Pryce et al. in 2011 showed a significant association between blood acylcarnitine findings and postmortem interval, body mass index, and liver weight; while this had no diagnostic significance, Pryce and colleagues still endorsed the concept of routine metabolic screening (31). However, an article titled “Routine Metabolic Testing is Not Warranted in Unexpected Infant Death Investigations” reviewed 135 infant deaths and found that metabolic screening did not identify inborn errors of metabolism as cause of death in any case in which it was not already suspected (32). Only two deaths in the series were due to an inborn error of metabolism, and only one of these had a positive metabolic screen; however, the diagnosis was already suspected based on histology and history. The small number of infants is a serious limitation of this study, given the low incidence of inborn errors of metabolism in the population, and the article’s title may be an overstatement. However, given its low yield, in a medicolegal death investigation system with insufficient budgetary resources, metabolic testing may not be the best way to spend those limited funds. The utility and practicality of metabolic testing is further discussed in detail elsewhere in this volume.
Genetic/molecular testing, cardiac pathology, and the need for appropriate biospecimen retention at the time of autopsy are all discussed in detail elsewhere in this volume. It is worth noting here that supplementing the traditional anatomic postmortem examination with a molecular autopsy that targets arrhythmia-associated variants may increase the likelihood of assigning a cause of death in an otherwise negative autopsy (33). So, in cases without a known or demonstrable cause of death at the time of autopsy dissection, it is recommended that, at a minimum, a sample of blood be maintained in an EDTA blood tube (purple-top tube) for possible future genetic testing.
In 2008, Buckley et al. attempted to make a case for elevated β-tryptase levels as a marker for anaphylaxis in sudden unexplained infant deaths (34). Buckley’s argument was based on statistically significantly higher levels of β-tryptase found in 40 unexplained infant deaths versus 32 control infants with explained causes of death. No differences were seen in IgE in either group and none had objective findings of anaphylaxis, therefore the difference in β-tryptase levels in the two groups had no relevance to cause of death. Absent any clinical context, analysis of β-tryptase cannot be recommended as a best practice.
In 2009, a retrospective study by Cohen et al. of 35 cases suggested that the presence of nucleated red blood cells in peripheral blood may be a marker for hypoxia (35). Cohen and colleagues called for study of more cases. To our knowledge, such studies have not been forthcoming. Nucleated red blood cells are seen more often in younger infants and have been associated with maternal smoking (36). Typically, nucleated red blood cells clear the circulation by the fourth day of life but are seen in cases with known hypoxic events such as hanging. Cohen et al. showed an association between nucleated red blood cells and intra-alveolar hemorrhage (35). Intra-alveolar hemorrhage is a nonspecific finding and can be seen in accidental trauma as well as in intentional and unintentional suffocation (37). Other findings that may indicate chronic hypoxia include thickened pulmonary artery muscle, brainstem astrogliosis, and increased hemoglobin and erythropoietin levels in blood (38).
Several findings common in unexplained infant deaths (and to a lesser extent, unexplained child deaths) have emerged over the years but there is little agreement on the significance of many. Petechial hemorrhages of the intrathoracic organs, for example, have been commonly reported in unexplained infant deaths but have no diagnostic relevance for a specific cause of death (39). In most cases, these petechial hemorrhages are considered incidental findings. Alveolar hemorrhage, gastric contents in conducting airways, and other findings have each, at one time, been considered significant or possibly etiologic but are no longer. Every discarded theory regarding the etiology of sudden unexplained infant death and the associated findings formerly thought to be of diagnostic significance is beyond the scope of this publication. In the struggle to explain these tragic deaths, it is tempting to overinterpret slight findings as causally related to death or perseverate on “positive” findings that have no known diagnostic significance. Scarcity of resources is often a factor in deciding if or how to further evaluate findings of questionable significance.
An autopsy must be performed in all sudden unexpected pediatric deaths not readily explained by presenting history, unless prohibited by law (such as in cases of religious objection in certain states). The autopsy should be completed promptly and as soon after death as practical, to preserve the quality of specimens for potentially needed microbiological, metabolic, and genetic testing. As previously discussed, there is no universally accepted definition of what constitutes a “complete” autopsy, and for good reason – not all cases are the same or require the same examination. Also, there are times when a distinction exists between studies sufficient to determine an accurate cause of death and what is ideal for thorough evaluation of the case (e.g., diagnosis of genetic disease which may affect siblings). When determining which postmortem diagnostic procedures to perform in a case of sudden unexpected pediatric death, it is critical to consider age and other risk factors and to pay attention to both the common and rare diagnostic possibilities. If one were to attempt exclusion of every possible diagnosis, the list of procedures and tests could become rather exhaustive and cost-prohibitive for some medical examiner/coroners. Instead, we propose a set of core autopsy procedures and ancillary testing (Table 5.1) that should be a minimum routine. Additional special procedures and testing will be necessary depending on age, differential diagnosis, and whether the definitive cause of the death is identified through the minimum routine.
Core Components of the Postmortem Examination of an Infant or Child Who Has Died Suddenly and Unexpectedly (Modified from [40]).
The first step in the autopsy of an infant or child begins well before one approaches the autopsy table. Scene investigation, addressed elsewhere in this volume, is a key element; the findings of the scene investigation and doll reenactment, if completed, must be reviewed by the pathologist prior to beginning the autopsy. Medical records (birth and primary care), if available, should also be reviewed prior to autopsy, and if not immediately available should be obtained prior to completion of the autopsy report.
Before any manipulation of the body, overall photographs should be taken of the body as received to document clothing and placement of therapeutic devices. The diaper can be photographed to document urine, stool or blood. Evidence of medical therapy on the body is documented. External medical devices should then be removed prior to radiography to obtain the best radiographic images. If internal examination is required to verify correct placement of invasive catheters and tubes, these can be left in place during radiography. Although useful information, confirmation of such placements is rarely informative about mechanism or cause of death. Photographs are taken of each body surface from anterior, posterior, and lateral views followed by detailed photos of the head and face, oral and labial mucosa and frenula, ocular globes and palpebral conjunctivae, neck, hands and feet, genitals, anus, and any areas having injuries, scars, or anomalies.
A radiographic skeletal survey should be obtained in all infants and young children. Postmortem radiography provides important information regarding the extent and age of skeletal trauma that may not otherwise be identified or documented at autopsy, particularly when that trauma involves the extremities (41). In the clinical setting, the highest yield for new fracture detection is in children <36 months of age, and skeletal survey is considered mandatory in a workup for abuse in children <24 months and suggested up to 36 months of age (42). Practices in the postmortem arena vary regarding specific age cutoffs, and there is no literature upon which to base a specific recommendation. Many offices use an arbitrary cut off age set by policy, which may be up to five years. All infants should be radiographed. Consultation with a pediatric radiologist, if available, would be ideal. Technicians performing radiographs should receive specific training in proper technique and safety.
A skeletal survey is a series of radiographs that image the entire skeleton in appropriate anatomic positioning, allowing identification of focal and diffuse abnormalities and differentiation between anatomic variation, developmental variation, injuries, and natural etiologies. Each anatomic region should be imaged with a separate radiograph. In infants, special oblique views of the ribs are also required for best interpretation. A single full-body radiograph (“babygram”) should not be performed. At the pathologist or consulting radiologist’s discretion, additional views for specific purposes or fewer views depending on imaging already performed antemortem may be necessary. Specific components of a skeletal survey are provided in Table 5.1 and Appendix 6. Children who die suddenly are often transported to the hospital for pronouncement of death. Medical examiner’s offices with limited resources may find it helpful to develop memoranda of understanding with local hospitals so that postmortem skeletal surveys are obtained and interpreted before transport of the body for autopsy.
The external examination proceeds with basic measurements of body weight, length, foot length (fetus/infant), and head, chest, and abdomen circumferences. Identifying marks or scars, signs of disease or trauma, dysmorphic features, and congenital anomalies are documented. Some laboratory specimens, such as nasopharyngeal swabs for viral culture or cerebrospinal fluid obtained via lumbar puncture, may be collected during the external examination.
Internal examination begins with a Y-shaped or U-shaped incision (the latter providing wider exposure), with reflection of the subcutaneous tissue to expose musculature and ribs. Injuries of the chest wall should be described and photographed. The chest and abdominal cavities are opened and a photograph taken to document the anatomic arrangement of organs. Samples for microbiological cultures, including cardiac blood and lung parenchymal swabs and/ or biopsies (depending on local laboratory requirements), should be collected prior to contamination of the body cavities (see Chapter 6 Evaluation for Infectious Diseases). A thorough in situ examination of the organs prior to their removal will assess situs, origin, and course of the great vessels (including pulmonary return and state of the ductus arteriosus), fluid collections and adhesions in the body cavities, and orientation and lateralization of intestinal loops. After this initial in situ examination, dissection approaches will vary based on findings and pathologist’s preference. The heart and lungs may be removed together as a block, or separately; this is further discussed below. If the kidneys are cystic or hydronephrotic, they should be dissected as a block with the ureters and bladder attached.
The neck organs, including tongue, hyoid bone, larynx, and trachea, are dissected via an anterior approach and removed for further dissection. Visual inspection of the tonsils and retropharynx for abscess can be easily accomplished after removal of the neck organs.
The organs are dissected, with special attention to normal development and potential for congenital anomalies. A detailed examination of the heart is a critical step. The orientation of the heart and great vessels must be examined in situ in all pediatric cases. When abnormalities are apparent at this initial examination, the heart, lungs, and thoracic aorta should be removed en bloc for further examination. Otherwise, the method of removal is at the discretion of the pathologist. The heart may be preserved in formalin for further examination by the pathologist or a consultant, at the pathologist’s discretion. In infants, the heart should be opened along lines of blood flow. In older children, the adult method (transverse apical sections followed by dissection along lines of blood flow) may be used. A detailed description of the heart examination is provided in Chapter 7 (Evaluation for Cardiac Diseases).
The head should be examined via reflection of the scalp and temporal muscles, removal of the cranial cap, examination of the dura and surrounding spaces, and direct examination of the brain in situ. Cerebrospinal fluid, meningeal swabs, and/or brain biopsy for bacterial and viral culture may be collected at this point. Given the softness of immature brains and potential for subtle lesions to be significant, the brain should be carefully removed and fixed in 10% formalin for 10 to 14 days prior to further examination if organ retention is not precluded by statute and the autopsy has not revealed a definitive cause of death. The dura mater and dural sinuses are examined, then removed from the convexity and base of the skull. The exposed cranium is examined carefully for fractures and the pituitary gland removed. The spinal cord may be removed by either anterior or posterior approach, depending on findings already known present or on pathologist’s preference. Although the spinal cord requires an additional dissection to examine and only rarely harbors the cause of death, it is responsible for vital bodily functions (more so than other organs routinely examined, such as the thymus) and should be examined despite the extra effort required. Macroscopic and microscopic examination of the brain by a neuropathologist is ideal for pediatric deaths in which a cause is not identified at autopsy, but this may not be possible in all jurisdictions. A detailed discussion of the gross and microscopic examination of the brain is found in Chapter 8 (Evaluation for Central Nervous System Disorders).
At this point, if no evidence of head trauma has been identified and there is no need for further examination of the ocular globes (such as, for retinal hemorrhages or clinically diagnosed/suspected tumor), vitreous fluid should be collected for electrolyte testing. Radiographic findings should guide removal of any bones for additional specimen radiography and/or gross and histologic examination. The parietal pleurae should be stripped from the chest cavity to expose the ribs for further examination for fractures, as this technique has been shown to identify more fractures than examination without pleural stripping (43).
Additional special dissections can be considered, depending on whether injuries or anomalies have already been identified, and depending on the history. Table 5.2 presents a list of recommended special dissections and their indications.
Special Dissections and Their Indications.
Representative samples of organs and tissues must be obtained for microscopic examination in all sudden pediatric deaths in which a cause is not identified at autopsy (Table 5.3). At minimum, the lungs, heart, liver, and kidneys must be examined histologically, as these are the highest yield areas, and as significant histological abnormalities may be detected even when these organs are macroscopically normal (27). Additional histologic sections may be valuable. Small portions of all organs should be retained in formalin for later histologic sampling should initial histologic examination prove equivocal or further investigation is required.
Histologic Sampling During the Postmortem Examination of an Infant or Child Who Has Died Suddenly and Unexpectedly.
Investigative findings and pathologist discretion guide the scope of ancillary testing. Initial laboratory testing should at a minimum include: chemical analysis of vitreous fluid for electrolytes and glucose (if quantity recovered allows), comprehensive toxicology testing, and microbiological cultures. Toxicology testing should include illicit and prescription drugs, over-the-counter medications, and alcohols. Electrolyte testing is performed by many toxicology labs.
A detailed discussion of sampling for infectious diseases is provided in Chapter 6 (Evaluation for Infectious Diseases). Microbiological testing should be directed by the case history and autopsy findings. At a minimum, microbiological studies should be performed on blood, lungs, nasopharyngeal swab, cerebrospinal fluid, or meningeal swab. Molecular testing for infectious agents may be performed in conjunction with cultures, and specimens should be preserved for molecular testing if needed later. A detailed discussion of sample collection and testing for genetic and metabolic conditions is provided in Chapter 9 (Evaluation for Genetic and Metabolic Disorders). While genetic testing is not required and does not have to be ordered at the time of autopsy even when desired, specimens suitable for later genetic testing should be properly collected and preserved. At minimum, retained specimens should include a purple top tube of blood (preferably 10 mL, though specimen quantity may be limited by body size), and a small piece of fresh tissue (heart, liver, or spleen, in order of preference). These specimens should be stored frozen if testing is not being ordered immediately, preferably in an ultra-low temperature freezer (−70 to −80°C). If structural evidence for a cardiomyopathy is identified at autopsy, testing should be discussed with the family and ordered as soon as practical after the autopsy to preserve specimen quality.
Ideally, genetic testing for cardiac channelopathies and cardiomyopathies should be performed in all sudden unexplained pediatric deaths that remain unexplained after autopsy and ancillary testing. Testing for genes associated with sudden death in epilepsy is also reasonable even in the absence of a seizure history. Other genetic studies (e.g., for metabolic and neurologic disorders) may be appropriate based on medical history, circumstances of death, and autopsy findings. It is understood that the yield of genetic testing is low in sudden unexplained infant deaths, but somewhat higher in sudden unexplained child deaths. DNA banking may be offered to families (at their cost) when a cause of death is not identified.
Metabolic testing should be performed in any death in which the clinical history or autopsy findings suggest a diagnosis of inborn error of metabolism; clinical consultation may be useful to appropriately target the testing. Routine metabolic screening in all cases of sudden unexplained infant death is extremely low-yield. Also, a negative result from the limited screening typically performed postmortem may provide false reassurance. If metabolic testing is not requested at the time of autopsy, a metabolic card should be prepared and held for testing until indicated by further studies. See Chapter 9 (Evaluation for Genetic and Metabolic Disorders) for further details.
Following completion of the autopsy dissections and requisition of initial testing, preliminary findings and expectations of what may be found in additional testing should be communicated to key individuals, including the family, investigating agencies, and the pediatrician, as applicable and allowed by law. In addition to neuropathology and cardiac pathology consultations, consultation with a pediatric pathologist, pediatric radiologist, or other specialist may be needed at this point in the examination, depending on autopsy findings and differential diagnosis. Such communications and interactions are discussed further in Chapter 12 (Family Needs and Follow-up Care) and Chapter 13 (Professional Relations).
When the ancillary tests, special consultation reports, and histologic examination have been completed, the forensic pathologist should review all results, findings, and information in the case file, and consider whether additional testing or consultations are needed. It may be necessary to request an update or additional follow-up from the investigating law enforcement agency and/ or the medicolegal death investigator. If the cause of death has been identified, the forensic pathologist/medical examiner then finalizes the autopsy report, and ideally, communicates again with the key individuals and agencies involved in the case. In cases in which no cause of death is identified, all reasonable attempts should be made to gather further investigative information, laboratory testing, or other analyses which could identify a cause of death. In the case of unexplained infant and child deaths, this should include genetic testing for cardiac channelopathies and cardiomyopathies, prior to considering rendering a final opinion regarding cause of death that amounts to “undetermined” or its equivalent. Specific recommendations for death certification are described in Chapter 10 (Death Certification and Surveillance).
While individual offices or systems may have established processes (recommended flow of processes summarized in Appendix 3), investigation and autopsy policies are not nationally standardized and results are sometimes under-communicated to families and other investigative team members. This is in part due to the nonuniformity of medicolegal death investigation systems, with variable coroner and medical examiner systems functioning at county, regional, and state levels, and with autopsy facilities ranging from fully-staffed on-site to off-site contract services. Regulation is difficult in this patchwork of systems and local statutes vary on what information may be available, and who shall have legal access to it.
A UK study evaluating consent for retaining tissue after autopsy in sudden infant deaths (required by law in the United Kingdom but not in the United States) showed that in 60% of cases, either bereaved parents were not asked how they wanted removed tissues handled or their wishes were not conveyed to the pathologist (44). Thus, consent forms were standardized and training in consent procedures was provided (including careful instruction on timing and location of consent requests). This created a uniform system across the UK coroner and hospital systems, and resulted in not only near-complete compliance with the law, but also greatly increased consent rates for retaining tissue (including paraffin blocks and histology slides) as part of the medical record, and for education, audit, quality control, and medical research (with families able to consent to each individually) (44). Unfortunately, this degree of standardization would be extremely difficult to implement in the United States as there is no federal oversight of death investigation systems, which function based on state and local jurisdictional statutes or policies and are largely unregulated in terms of investigative policies.
Rudd et al. evaluated the experience of bereaved parents of children dying unexpectedly (45). The study focused on experiences surrounding investigation of death with emphasis on the medicolegal system. When asked specifically about communication throughout the investigation, parents reported a wide variety of experiences, demonstrating variation in procedures/ practice across the United States. Parents reported that the first professional to report preliminary information was most often the medical examiner (25% of the time), followed by the coroner (14% of the time), or law enforcement, detectives, death investigators, or pediatricians (each accounting for less than 10% of first communications). Only slightly more than half (57%) of parents reported that they received information shortly after the autopsy. The time to receive preliminary information varied from less than 24 hours to up to two weeks, with a third of parents not receiving any information at all. Final investigation findings and cause of death determination were received by parents 49% of the time; 32% said they never received further information, and 19% said they had to specifically request further information. Most parents reported receiving information by phone (49%), with mail second most common (33%), and in-person least common (19%). The time to completion of the investigation was reported by the majority of parents to take anywhere from seven weeks to four months, with 10% waiting over seven months for a final cause of death determination. Parents frequently indicated that the death investigation could be improved by the addition of kindness, professionalism, and perceived empathy, and that they desired personal follow-up from the pathologist to answer questions or further explain autopsy results. Families reported that the least desired way to received information was by mail with no further explanation, and the most desired was an in-person meeting to discuss questions with the pathologist (45).
The scope of communication surrounding autopsy procedures and results is largely unknown and there is no standardized protocol that ensures accurate and timely communication of autopsy findings at any stage of the process. Unfortunately, mandates regarding what information is required to be shared, or conversely prohibited from being released, vary widely by jurisdiction depending on local regulations and statutes. Other limitations to communication include unpredictable or unknown family-specific issues, which may include socioeconomic or cultural barriers. These issues have not been directly studied, nor have strategies to overcome these barriers been addressed, as specifically relates to infant and child death.
During the initial death investigation, the autopsy protocol and anticipated process following the autopsy should be relayed to the family, law enforcement, and other applicable parties verbally. Ideally, a printed handout containing contact information should also be provided, as an aid to families who may not be able to absorb verbal information because of the acuity of the death. This initial information should include the fact that an autopsy will be performed and when that examination will occur, protocols for release of the child’s body following the autopsy, and a statement concerning the possible need to retain whole organs. At the completion of the autopsy, communication of both preliminary and final results is essential to family, law enforcement, child protective services, and others (e.g., coroner, child fatality review teams, or pediatrician) in a system dependent manner. This communication must be timely in order to be effective.
Communication should be considered a “step” in the autopsy, both for preliminary and final results, so that applicable parties, particularly the child’s family, know what to expect at every step in the process. The communication of preliminary autopsy results to the family should take place during a telephone or in-person meeting held within 48 hours after the autopsy. During this meeting it is important to explain preliminary findings, discuss pending ancillary testing including the expected turnaround time for results, and convey the anticipated timeline for completion of the final autopsy report. A condolence card or office letter to the next of kin (addressed “to the family of ” or “to the parents of ”) should be standardized as a follow-up tool to communicate in writing the process and anticipated timeframe for the various steps and final report. Updates to the family should also be provided if additional testing or consultations are causing a longer turnaround time for final results than was initially discussed, and the family should be provided with the contact information for the individual they should contact if they have further questions or want to check for updates.
Upon completion of the autopsy report, the family should have the opportunity to ask questions of the pathologist to best understand the findings in the report. A written request from the family for this information may be required in some states.
Communication of information or results, as they become available, should also be provided to outside consultants. Additionally, timely communication with law enforcement and child protective services is essential to protect the family from unneeded scrutiny and consequences for other children in the family such as prolonged protective custody.
The autopsy report should include a synoptic report (See Chapter 11) and explanation of the rationale for the cause and manner of death determination. This should be written in a manner accessible to the lay reader, and questions about unusual results or circumstances should be anticipated and explained proactively, when possible. Such a discussion may also provide opportunity to acknowledge limitations or uncertainties in the cause determination and highlight risk factors that were present. While recommendations for specific testing or interventions for surviving family members are best deferred to a genetic counselor or clinician, the pathologist’s opinion section may include a recommendation that surviving family members be clinically evaluated when a genetic condition has been diagnosed or remains in the differential diagnosis. Such recommendations may also be addressed in a separate letter to the family rather than in the autopsy report.
As part of standard operating procedures in pediatric deaths, the next of kin should be notified via phone or in person of the final results. If an autopsy report is to be provided to them, they should be informed about how and when they will receive it. Mailed reports should be sealed in an envelope with a cover letter alerting the family to the contents (to avoid inadvertently shocking an unsuspecting person who opens the envelope). The cover letter should include methods for contacting the office or pathologist with further questions after receiving the report. As allowable by local laws and regulations, copies of the autopsy report should also be automatically provided to the child’s pediatrician or other physicians, law enforcement, child protective services, child fatality review teams, and other public health or applicable agencies. If genetic testing has been performed, access to a genetic counselor should be provided.
There is no current ongoing standardized streamlined support system for families losing an infant or child suddenly and unexpectedly. Saternus et al. recommend ongoing care for relatives following a sudden infant death. It is recommended that this support should occur in stages including the primary crisis stage at the house or hospital, follow-up meetings which can include saying farewell to the child, holding the child as desired and creation of a memory box, ongoing communication during the investigation, communication upon completion of the final report and certification of cause of death, followed by ongoing support (especially when no definitive cause is found). It is suggested that special care be provided during a subsequent pregnancy as such pregnancies can trigger renewed anxiety. The support should not end until the family feels they are ready and not before the first birthday of a subsequent child, if there is one (46).
Currently, public funding for performing the autopsies of children who die suddenly and unexpectedly is relatively scant. These difficult cases often require more resources within and outside the medical examiner/ coroner office than other cases, and already underfunded and understaffed offices must absorb these costs. Morgues in many offices are outdated and ill-equipped. Increasing caseloads and understaffing result in changes in local policies and procedures such that not all infant deaths are adequately investigated or autopsied in a consistent manner (47, 48). The nonuniformity of systems of death investigation in the United States (and other countries) contributes significantly to the inconsistencies that currently exist in infant death scene investigation (49). Additionally, employees of most medical examiner/ coroner offices lack formal training in grief counseling and may not be equipped to handle the bereavement needs of grieving parents. Pediatric deaths often trigger strong reactions for all involved. It is important to be aware of how these reactions can affect employees of the medical examiner/coroner office, other professionals, and investigators, especially how such reactions may affect each individual’s ability and willingness to serve as a support for the bereaved family.
To help address these deficits, nonprofit organizations are available to provide support for families. DNA banking services and genetic testing are available, and the foundation will cover many expenses for ancillary testing, such as genetic testing and specimen shipment kits (50).
Support for autopsies of children who die suddenly and unexpectedly needs to be expanded. Offices should be given sufficient funds to make the studies recommended here readily available, including routine laboratory testing (microbiology, vitreous electrolytes), advanced imaging, genetic and metabolic testing, and necessary consultants (cardiac pathologists, pediatric pathologists and neuropathologists). The autopsy suite should be equipped with the necessary tools and equipment to properly perform an autopsy on a child or infant, such as pediatric scales, pediatric sized dissection tools, sterile supplies for microbiology samples, an adequate supply of purple top tubes for genetic specimens, adequate freezers for long-term sample storage, and access to imaging equipment. The addition of a licensed social worker and/or grief counselor to the office staff would greatly enhance the ability of medical examiner/coroner offices to provide needed resources to families. However, with the current fiscal constraints of most publicly-funded medical examiner/coroner offices, funding for a non-forensic position such as this may be difficult to obtain. Victim assistance grant funds may be available in some jurisdictions. Medical examiner/ coroner offices may also want to acquaint themselves with local pediatricians to assist with grief counseling referrals, especially when siblings (patients of pediatricians) may be involved (See also Chapter 12). It is recommended that medical examiner/coroner offices work with local nonprofit organizations to develop a list of resources and support agencies that can be provided to the families for assistance. Access to genetic counselors must also be in place for families in which genetic testing is performed.
Greater financial support must be provided to death investigation systems (medical examiners and coroners) in order to provide adequate training, forensic pathologist staffing, support staffing, and needed facilities, equipment, laboratory supplies, and budget for testing. This funding is needed to ensure thorough death scene investigation, complete autopsies (including the recommended levels of associated ancillary testing, procedures, and consultations), timeliness of results, and the appropriate care and counseling of the next of kin. Financial incentives to encourage more medical trainees to enter the field of forensic pathology should be pursued to combat a critical workforce shortage that threatens the capacity to perform necessary autopsies and associated advanced procedures recommended here. Forensic pathologists who seek and/or attain dual training, especially in areas of pediatric pathology, cardiac pathology and neuropathology, should be supported and encouraged.
With increased funding, and better access to laboratory testing and consultants, it is believed that fewer sudden, unexpected deaths in children will remain unexplained. Improvements in consistency in pediatric death investigations and autopsy procedures will result in a more uniform collection of information, which will aid in proper cause and manner of death classification and lead to better information sharing for prevention purposes.
Table 5.4 summarizes the procedural guidance and key considerations for autopsy performance.
Procedural Guidance and Key Considerations for Autopsy Performance.
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