Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.

Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.

Stillbirth: we can do better.

Stillbirth is far too common, occurring in millions of pregnancies per year globally. The rate of stillbirth (defined as death of a fetus prior to birth at 20 weeks' gestation or more) in the United States is 5.73 per 1000. This is approximately 1 in 175 pregnancies accounting for about 21,000 stillbirths per year. Although rates are much higher in low-income countries, the stillbirth rate in the United States is much higher than most high resource countries. Moreover, there are substantial disparities in stillbirth, with rates twice as high for non-Hispanic Black and Native Hawaiian or Other Pacific Islanders compared to non-Hispanic Whites. There is considerable opportunity for reduction in stillbirths, even in high resource countries such as the United States. In this article, we review the epidemiology, risk factors, causes, evaluation, medical and emotional management, and prevention of stillbirth. We focus on novel data regarding genetic etiologies, placental assessment, risk stratification, and prevention.

Stillbirth Associated With Anomalous Origin and Course of the Left Coronary Artery: A Report of 2 Cases.

Coronary artery anomalies and their potential sequelae are not well studied in association with stillbirth. Herein, we report the autopsy findings in two term stillborn fetuses with coronary artery anomalies. Both fetuses showed identical findings consisting of an abnormal origin of the left coronary artery from the right sinus of Valsalva and an interarterial course of the left coronary artery. Histologic vascular and myocardial changes were also present. These coronary artery findings are associated with sudden death in adults and neonates, and therefore, their potential to be a cause and/or contributor to fetal death is suspected.

The importance of fetal autopsy: An institutional review and development of best practices for reporting size and estimating gestational age at demise.

OBJECTIVES: Fetal and neonatal autopsy offers critical insight into disease processes and clinical decision-making in reproductive medicine. Elucidating the cause of death and gaining a deeper understanding of the entities leading to fetal demise aids in anticipatory guidance for physicians and patients. Accurate assessment of growth and dating of fetuses is an important aspect of classifying pathology in the fetal and neonatal population. This study aims to optimize the autopsy approach to sizing and dating discrepancies, in addition to exploring the current trends in causes of stillbirth, with respect to placental, fetal/neonatal, and maternal factors, and rates of cases that remain undetermined after autopsy. METHODS: A single-institution retrospective review of autopsy reports from mid-2008 through 2021 revealed 243 complete perinatal autopsy examinations. RESULTS: Placental cause of demise was identified in 46% of cases. Cause of demise was undetermined in 22% of cases. Evaluation of a subset of cases exposed minimal to no reporting of size and/or dating discrepancies in almost half of cases with undetermined cause of death. CONCLUSIONS: "Best practice" suggestions for sizing and dating fetuses/neonates in the postmortem period have been developed to aid in delivering clear, consistent reports. Because fetal and neonatal autopsy is an invaluable tool for understanding the factors that contribute to stillbirth, it is important to use appropriate sizing and dating methods and consistent language to deliver proper patient education and clinical guidance.

Fetal and Neonatal Autopsy in the Molecular Age: Exploring Tissue Selection for Testing Success.

While conventional autopsy is the gold-standard for determining cause of demise in the fetal and neonatal population, molecular analysis is increasingly used as an ancillary tool. Testing methods and tissue selection should be optimized to provide informative genetic results. This institutional review compares testing modalities and postmortem tissue type in 53 demises occurring between 20 weeks of gestation and 28 days of life. Testing success, defined as completion of analysis, varies by technique and may require viable cells for culture or extractable nucleic acid. Success was achieved by microarray in 29/30 tests (96.7%), karyotype in 40/54 tests (74.1%), fluorescent in situ hybridization in 5/9 tests (55.6%), and focused gene panels in 2/2 tests (100%). With respect to tissue type, postmortem prepartum amniotic fluid was analyzed to completion in 100% of tests performed; compared to 84.0%, 54.5%, and 80.8% of tests using placenta, fetal only, and mixed fetal-placental tissue collection, respectively. Sampling skin (83.3%, in cases with minimal maceration) and kidney (75.0%) were often successful, compared to lower efficacy of umbilical cord (57.1%) and liver (25.0%). Addition of genetic testing into cases with anomalous clinical and gross findings can increase the utility of the final report for family counseling and future pregnancy planning.

A Compendium on Perinatal Autopsy in Neonats.

Professionals who work in perinatal care must understand the advantages and disadvantages of perinatal autopsy since they are an essential tool for determining fetal and neonatal mortality. Perinatal is the period five months before one month after birth, while prenatal is before birth. The traditional prenatal autopsy is still the gold standard for establishing the cause of death and providing an accurate report, notwithstanding the development of new technology. The ideal locations for a prenatal autopsy are tertiary institutes that offer these procedures. It emphasizes the need for systematic histopathologic sampling, rigorous record-keeping, technological adaptation, and wise laboratory test use. When a laboratory does a microbiologic examination with a focus on the genital tract and neonatal problems, it is very beneficial. Karyotyping needs to be selective and works best when there are many aberrations if resources are to be saved. A perinatal autopsy is insufficient without examining the placenta, and severe lesions should be distinguished from deformities and abnormalities brought on by fetal death. In addition to providing epidemiology teams and auditing committees with high-quality data, the pathologist's role in perinatal medicine also includes participating in the multidisciplinary management of fetal abnormalities identified during pregnancy, monitoring the patterns of iatrogenic disease, and aiding the perinatal grief management process. Investigations into complicated multiple pregnancies, hydrops, bone dysplasias, and unexpected intrauterine fetal deaths provide unique obstacles and diagnostic difficulties. There hasn't been any research that contrasts postmortem computed tomography with postmortem x-rays in pregnant women, as far as we know. Histological analysis of many perinatal autopsies revealed healthy developing tissues. Only a tiny percentage of histological abnormalities can be expected in fetal anomaly terminations. On prenatal imaging, many organ abnormalities are commonly anticipated. A thorough database search was done in Pubmed, Medline, and Scopus using the phrases "fetal abnormalities," "karyotyping," "fetal abnormality," "postmortem," and "perinatal autopsy."

Perinatal and Fetal Autopsies in Neuropathology: How I do it.

Fetal and perinatal autopsies are useful to identify the accurate cause of death and in the process recognize disorders which may require counselling for future pregnancies. Abnormalities of the CNS are an important cause of fetal loss and perinatal deaths. Most of these are structural abnormalities of the CNS, however a smaller portion show changes pertaining to prematurity, infections and even congenital tumors. In this review we evaluate CNS abnormalities of the fetus and the newborn as detected in autopsy series. We also describe our experience in a tertiary care hospital with a specialized neonatology unit over the last 8 years and discuss some of the newer methods like virtual autopsy.

The etiology of stillbirth over 30 years: A cross-sectional study in a tertiary referral unit.

INTRODUCTION: Stillbirth remains an often unpredictable and devastating pregnancy outcome, and despite thorough investigation, the number of stillbirths attributable to unexplained causes remains high. Placental examination has become increasingly important where access to perinatal autopsy is limited. We aimed to examine the causes of stillbirth in normally formed infants over 30 years and whether a declining autopsy rate has affected our ability to determine a cause for stillbirths. MATERIAL AND METHODS: All cases of normally formed singleton infants weighing ≥500 g that died prior to the onset of labor from 1989 to 2018 were examined. Trends for specific causes and uptake of perinatal autopsy were analyzed individually. RESULTS: In all, 229 641 infants were delivered, with 840 stillbirths giving a rate of 3.66/1000. The rate of stillbirth declined from 4.84/1000 in 1989 to 2.51 in 2018 (P < .001). There was no difference in the rate of stillbirth between nulliparous and multiparous women (4.25 vs 3.66 per 1000, P = .026). Deaths from placental abruption fell (1.13/1000 in 1989 to 0 in 2018, P < .001) and the relative contribution of placental abruption to the incidence of stillbirth also fell, from 23.3% (7/30) in 1989 to 0.0% (0/19) in 2018 (P < .001). Stillbirth attributed to infection remained static (0.31/1000 in 1989 to 0.13 in 2018, P = .131), while a specific causal organism was found in 79.2% (42/53) of cases. Unexplained stillbirths decreased from 2.58/1000 (16/6200) in 1989 to 0.13 (1/7581) in 2018 (P < .001) despite a fall in the uptake of perinatal autopsy (96.7% [29/30] in 1989 to 36.8% (7/19) in 2018; P < .001). Placental disease emerged as a significant cause of stillbirth from 2004 onwards (89.5% [17/19] in 2018). CONCLUSIONS: The present analysis is one of the largest single-center studies on stillbirth published to date. Stillbirth rates have fallen across the study period across parity. A decrease in deaths secondary to placental abruption contributed largely to this. Infection-related deaths are static; however, in one-fifth of cases a causative organism was not found. Despite a decreasing autopsy rate, the number of unexplained stillbirths continues to fall as the importance of placental pathology is increasingly recognized.

Modelación didáctica de la preparación del residente de anatomía patológica para la autopsia perinatal / Didactic modelling of the pathological anatomy resident's training for the perinatal autopsy

Introducción: Es ineludible dar solución a las insuficiencias que expresan los residentes de anatomía patológica de la Facultad de Medicina de Guantánamo en la realización de la autopsia perinatal. Objetivo: Potenciar la preparación del residente de anatomía patológica para realizar la autopsia perinatal. Métodos: Previa aprobación por el comité de ética, se realizó un estudio descriptivo, prospectivo y longitudinal durante el período desde septiembre de 2013 hasta julio de 2017. Se emplearon los siguientes métodos: analítico-sintético e inductivo-deductivo; enfoque sistémico, modelación, observación, análisis documental, examen de desempeño, encuesta a docentes; criterio de especialistas y análisis de frecuencia. Se realizó una modelación didáctica de la preparación de este residente para la realización de la autopsia perinatal, la que se validó teóricamente con la participación de 7 profesores y mediante un preexperimento con 6 residentes. Resultados: Se apreció que la preparación del 100 por ciento de los residentes para la realización de la autopsia perinatal no satisfizo las exigencias curriculares, la que mejoró ostensiblemente después de la aplicación del sistema de tareas docentes para este fin. La totalidad de los profesores mostró conformidad con la modelación propuesta. Conclusiones: Se modeló didácticamente la preparación del residente de anatomía patológica para la realización de la autopsia perinatal, lo que puede contribuir a un cambio didáctico-metodológico cualitativamente superior en el proceso de enseñanza-aprendizaje de la especialización en Anatomía Patológica(AU)

Introduction: It is unavoidable to solve the shortcomings expressed by Pathological Anatomy residents of Guantanamo School of Medicine in performing the perinatal autopsy. Objective: To support the Pathological Anatomy resident's training to perform the perinatal autopsy. Methods: Prior approval by the Ethics Committee, a descriptive, prospective and longitudinal study was carried out during the period from September 2013 to July 2017. Theoretical methods (analytical-synthetic and inductive-deductive, systemic approach, modeling), together with empirical methods (observation, documentary analysis, performance exam, teacher survey, specialist criteria), and statistical-mathematic methods (frequency analysis). A didactic modeling of the resident's training for the performance of the perinatal autopsy was carried out, which was theoretically validated with the participation of seven teachers, and through a pre-experiment with six residents. Results: It was appreciated that the training of 100 percent of the residents for performing the perinatal autopsy did not meet the curricular requirements, which improved significantly after the application of the system of teaching tasks for this purpose. All teachers showed compliance with the proposed modeling. Conclusions: The Pathological Anatomy resident's training was modeled didactically for the performance of the perinatal autopsy, which may contribute to a qualitatively superior didactic-methodological change in the teaching-learning process of the specialization of Pathological Anatomy(AU)

No. 365-Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis.

OBJECTIVE: To review the information on fetal and perinatal autopsies, the process of obtaining consent, and the alternative information-gathering options following a prenatal diagnosis of non-chromosomal anomalies in order to assist health care providers in providing postnatal counselling regarding diagnosis and potential recurrence risks. OUTCOMES: To provide better counselling about fetal and perinatal autopsies for women and families who are dealing with a prenatally diagnosed non-chromosomal fetal anomaly. EVIDENCE: Published literature was retrieved through searches of PubMed or Medline, CINAHL, and The Cochrane Library in 2010, 2011, and 2017, using appropriate key words (fetal autopsy postmortem, autopsy, perinatal postmortem examination, autopsy protocol, postmortem magnetic resonance imaging, autopsy consent, tissue retention, autopsy evaluation). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. Additional publications were identified from the bibliographies of these articles. There were no date or language restrictions. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. BENEFITS, HARMS, AND COSTS: This update educates readers about (1) the benefits of a fetal perinatal autopsy, (2) the consent process, and (3) the alternatives when the family declines autopsy. It also highlights the need for a standardized approach to fetal and perinatal autopsies, emphasizing pertinent additional sampling when indicated. The authors recognize that there is variability across Canada in access to the cited services and resources. As such, these recommendations were developed in an attempt to promote access and to provide a minimum standard for all provinces and territories across the country. VALUES: The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table).

Care quality following intrauterine death in Spanish hospitals: results from an online survey.

BACKGROUND: The objective of the study was to evaluate practices in Spanish hospitals after intrauterine death in terms of medical/ technical care and bereavement support care. METHODS: A cross-sectional descriptive study using an online self-completion questionnaire. The population was defined as women who had experienced an intrauterine fetal death between sixteen weeks and birth, either through spontaneous late miscarriage/stillbirth or termination of pregnancy for medical reasons. Respondents were recruited through an online advertisement on a stillbirth charity website and social media. The analysis used Pearson's chi-squared (p ≤ 0.05) test of independence to cross-analyse for associations between objective measures of care quality and independent variables. RESULTS: Responses from 796 women were analysed. Half of the women (52.9%) had postmortem contact with their baby. 30.4% left the hospital with a least one linking object or a photograph. In 35.8% of cases parents weren't given any option to recover the body/remains. 22.9% of births ≥26 weeks gestation were by caesarean, with a significant (p < 0.001) difference between public hospitals (16.8%) and private hospitals (41.5%). 29.3% of respondents were not accompanied during the delivery. 48.0% of respondents recalled being administered sedatives at least once during the hospital stay. The autopsy rate in stillbirth cases (≥ 20 weeks) was 70.5% and 44.4% in cases of termination of pregnancy (all gestational ages). Consistent significant (p < 0.05) differences in care practices were found based on gestational age and type of hospital (public or private), but not to other variables related to socio-demographics, pregnancy history or details of the loss/death. Intrauterine deaths at earlier gestational ages received poorer quality care. CONCLUSIONS: Supportive healthcare following intrauterine death is important to women's experiences in the hospital and beneficial to the grief process. Many care practices that are standard in other high-income countries are not routine in Spanish hospitals. Providing such care is a relatively new phenomenon in the Spanish health system, the results provide a quality benchmark and identify a number of areas where hospitals could make improvements to care practices that should have important psychosocial benefits for women and their families.

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.

Kayki G, Güçer S, Akçören Z, Orhan D, Talim B, Yurdakök M, Yigit S, Boduroglu OK, Utine GE, Örgül G, Beksac MS. Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center. Turk J Pediatr 2018; 60: 471-477. We retrospectively evaluated autopsies performed on 151 non-immune hydrops fetalis (NIHF) cases to determine the etiology and pathological findings. Further, cases identified between 1980 and 2004 were compared with those identified between 2005 and 2015 to investigate the improvement of diagnostic performance of our institution. The mean gestational age during the fetal autopsy was 25 weeks. There were 30 live-born infants in the study group. The etiology of NIHF could be determined in 91 cases (60.3%), while it remained undefined in remaining 60 cases. The most commonly associated pathological conditions were cardiovascular malformations (11.3%), followed by chromosomal abnormalities (9.3%). Prior to 20th gestation week, genetic anomalies and cystic hygromas were the most common etiological factors, and after 30 weeks of gestation, cardiac abnormalities were found to be the most common causes. With time, the rate of undefined cases decreased from 48.4% to 33.75%. NIHF is a complex medical condition necessitating a multidisciplinary management approach. Progress in molecular genetics and imaging techniques is expected to improve diagnostic performance for rapid and better identification.

Diagnostic value of perinatal autopsies: analysis of 486 cases.

AIM: Autopsy is a beneficial procedure to determine the cause of death and the frequency of anomalies in perinatal losses. Even in the event of an autopsy not providing any additional information, completion of the procedure confirming the clinical diagnoses gives reassurance to both clinicians and parents. Here we present a 15-year archival study based on findings of perinatal autopsies. DESIGN AND METHODS: Four hundred and eighty-six cases from our archive were reviewed and according to the findings they were divided into three subcategories; (1) miscarriages (MCF); (2) fetuses terminated (FTA) for vital anomalies detected by prenatal ultrasonography; (3) premature or term newborns died within first month of life (neonates: NN). Autopsies were documented and classified according to week/age of cases, anomalies and causes of abortion or death. RESULTS: Two hundred and twenty-six of 486 cases (46.5%) were in MCF group while 227 (46.7%) and 33 (6.8%) were of them in FTA and NN groups, respectively. In FTA group, the most frequent anomaly detected was neural tube defects. In NN group, prematurity related complications were the most common cause of death. The autopsy process was found valuable in 39.7% of all cases. CONCLUSIONS: We suggest that autopsy procedure is diagnostically valuable even in situations when there is USG findings that are confirming FTAs or there is no important major fetal or placental anomaly detected in MCFs.

Lethal Congenital Malformations in Fetuses-Antenatal Ultrasound or Perinatal Autopsy.

BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32.5%) and partial agreement in 17/40 (42.5%) fetuses while autopsy completely changed antenatal diagnosis in 10/40 (25%) fetuses. Major findings were added in all 17 fetuses with partial agreement. In 2 cases, CMF suspected on USG were not detected on autopsy due to fetal maceration. CONCLUSION: Autopsy significantly adds to the prenatal USG diagnosis and may help in predicting the probability of recurrence, and thus counseling the affected couple to prevent any such future event.

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. TARGET POPULATION: Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). OPTIONS: Women and their partners will be able to obtain appropriate genetic carrier screening information and possible diagnosis of AR, AD, or XL disorders (preferably pre-conception), thereby allowing an informed choice regarding genetic carrier screening and reproductive options (e.g., prenatal diagnosis, preimplantation genetic diagnosis, egg or sperm donation, or adoption). OUTCOMES: Informed reproductive decisions related to genetic carrier screening and reproductive outcomes based on family history, ethnic background, past obstetrical history, known carrier status, or genetic diagnosis. SOGC REPRODUCTIVE CARRIER SCREENING SUMMARY STATEMENT (2016): Pre-conception or prenatal education and counselling for reproductive carrier screening requires a discussion about testing within the three perinatal genetic carrier screening/diagnosis time periods, which include pre-conception, prenatal, and neonatal for conditions currently being screened for and diagnosed. This new information should be added to the standard reproductive carrier screening protocols that are already being utilized by the most responsible maternity provider through the informed consent process with the patient. (III-A; GRADE low/moderate) SOGC OVERVIEW OF RECOMMENDATIONS QUALITY AND GRADE: There was a strong observational/expert opinion (quality and grade) for the genetic carrier literature with randomized controlled trial evidence being available only for the invasive testing. Both the Canadian Task Force on Preventive Health Care quality and classification and the GRADE evidence quality and grade are provided. EVIDENCE: MEDLINE; PubMed; government neonatal screening websites; key words/common reproductive genetic carrier screened diseases/previous SOGC Guidelines/medical academic societies (Society of Maternal-Fetal Medicine [SMFM]; American College of Medical Genetics and Genomics; American College of Obstetricians and Gynecologists [ACOG]; CCMG; Royal College Obstetrics and Gynaecology [RCOG] [UK]; American Society of Human Genetics [ASHG]; International Society of Prenatal Diagnosis [ISPD])/provincial neonatal screening policies and programs; search terms (carrier screening, prenatal screening, neonatal genetic/metabolic screening, cystic fibrosis (CF), thalassemia, hemoglobinopathy, hemophilia, Fragile X syndrome (FXS), spinal muscular atrophy, Ashkenazi Jewish carrier screening, genetic carrier screening protocols, AR, AD, XL). SEARCH PERIOD: 10 years (June 2005-September 2015); initial search dates June 30, 2015 and September 15, 2015; completed final search January 4, 2016. Validation of articles was completed by primary authors RD Wilson and I De Bie. BENEFITS, HARMS, AND COST: Benefits are to provide an evidenced based reproductive genetic carrier screening update consensus based on international opinions and publications for the use of Canadian women, who are planning a pregnancy or who are pregnant and have been identified to be at risk (personal or male partner family or reproductive history) for the transmission of a clinically significant genetic condition to their offspring with associated morbidity and/or mortality. Harm may arise from having counselling and informed testing of the carrier status of the mother, their partner, or their fetus, as well as from declining to have this counselling and informed testing or from not having the opportunity for counselling and informed testing. Costs will ensue both from the provision of opportunities for counselling and testing, as well as when no such opportunities are offered or are declined and the birth of a child with a significant inherited condition and resulting morbidity/mortality occurs; these comprise not only the health care costs to the system but also the social/financial/psychological/emotional costs to the family. These recommendations are based on expert opinion and have not been subjected to a health economics assessment and local or provincial implementation will be required. GUIDELINE UPDATE: This guideline is an update of four previous joint SOGC-CCMG Genetic Screening Guidelines dated 2002, 2006, 2008, and 2008 developed by the SOGC Genetic Committee in collaboration with the CCMG Prenatal Diagnosis Committee (now Clinical Practice Committee). 2016 CARRIER SCREENING RECOMMENDATIONS.

Post-mortem magnetic resonance foetal imaging: a study of morphological correlation with conventional autopsy and histopathological findings.

The aim of the present study is to offer our experience concerning post-mortem magnetic resonance (PMMR) in foetal death cases and an evaluation of the differences between the findings acquired by PMMR and by forensic autopsy. Fifteen foetuses were recruited from July 2014 to December 2015. These had suffered intrauterine death in women in the 21st to 38th week of gestation who were treated in the emergency department for non-perception of foetal movements. We performed a PMMR on foetuses, 3 ± 1 days on average from the time of death, and then a complete forensic autopsy was performed. All 15 foetuses were examined with a whole-body study protocol, starting from the skull, down to and including the lower limbs. The total time of examination ranged from 20 to 30 min in each case. The external evaluation and description of post-mortem phenomena (maceration), record of the weight and detection and the various measurements of foetal diameters were evaluated before performing autopsy. A complete histopathological study was performed in each case. Out of 15 cases examined, eight were negative for structural anatomical abnormalities and/or diseases, both in the preliminary radiological examination and the traditional autopsy. In the remaining seven cases, pathological findings were detected by PMMR with corresponding results at autopsy. PMMR can provide useful information on foetal medical conditions and result in improved diagnostic classification. It may enable the planning of a more suitable technique before proceeding to autopsy, including focusing on certain aspects of organ pathology otherwise not detectable. The association between PMMR, post-mortem examination and related histological study of the foetus-placenta unit could help reduce the percentage of cases in which the cause of foetal death remains unexplained. Lastly, it may allow a selective sampling of the organ in order to target histological investigations.

Development of novel software to generate anthropometric norms at perinatal autopsy.

Fetal and infant autopsy yields information regarding cause of death and the risk of recurrence, and it provides closure for parents. A significant number of perinatal evaluations are performed by general practice pathologists or trainees, who often find them time-consuming and/or intimidating. We sought to create a program that would enable pathologists to conduct these examinations with greater ease and to produce reliable, informative reports. We developed software that automatically generates a set of expected anthropometric and organ weight ranges by gestational age (GA)/postnatal age (PA) and a correlative table with the GA/PA that best matches the observed anthropometry. The program highlights measurement and organ weight discrepancies, enabling users to identify abnormalities. Furthermore, a Web page provides options for exporting and saving the data. Pathology residents utilized the program to determine ease of usage and benefits. The average time using conventional methods (ie, reference books and Internet sites) was compared to the average time using our Web page. Average time for novice and experienced residents using conventional methods was 26.7 minutes and 15 minutes, respectively. Using the Web page program, these times were reduced to an average of 3.2 minutes (P < 0.046 and P < 0.02, respectively). Participants found our program simple to use and the corrective features beneficial. This novel application saves time and improves the quality of fetal and infant autopsy reports. The software allows data exportation to reports and data storage for future analysis. Finalization of our software to enable usage by both university and private practice groups is in progress.

Bilateral congenital adrenal agenesis: a rare disease entity and not a result of poor autopsy technique.

Congenital adrenal agenesis is an extremely rare condition wherein the adrenal glands fail to develop. The absence of adrenal tissue results in the complete absence of hormones produced in the adrenal cortex (cortisol, aldosterone) and medulla (catecholamines), and is not compatible with postnatal life without artificial hormone replacement therapy. To date, 9 cases of adrenal agenesis have been reported, many of which are associated with additional congenital anomalies. Most cases were not detected on antenatal imaging and were detected incidentally at postmortem examination. We present a case of adrenal agenesis, detected incidentally at postmortem examination after termination of pregnancy for suspected fetal hydrops, and review the heterogeneous phenotype of this condition with associated abnormalities and molecular genetics. This case reinforces the role of the perinatal autopsy to investigate cause of perinatal mortality, allowing correlation of pathology with antenatal imaging findings and clinical details.

Perinatal autopsy rates at the University Hospital of the West Indies: 2002-2008 / Tasas de autopsia perinatal en el Hospital Universitario de West Indies: 2002-2008

OBJECTIVES: High perinatal autopsy rates are necessary for institutional management protocols and national policy-making. This study reviews perinatal autopsy rates and factors affecting these rates at the University Hospital of the West Indies. METHOD: All perinatal deaths (stillborn infants > 24 weeks gestation or 500 g; early neonatal deaths ie 0-7 days old) at the University Hospital of the West Indies, between January 2002 and December 2008, were reviewed retrospectively, using the annual perinatal audit records. The annual autopsy rates were calculated and the reasons why autopsies were not done examined. RESULTS: The average stillbirth (SB) autopsy rate was 59.6% (range 51.9 - 76.7%), while that for early neonatal deaths (ENDs) was 47.9% (range 34.4 - 63.2), with an overall average perinatal autopsy rate of 54.0% (range 42.2 - 62.2). Autopsies were requested in 79.3% and 51.7% of SBs and ENDs, respectively. Of those requested, 81.7% were done (75.2% stillbirths; 92.5% ENDs). In the ENDs, failure to request an autopsy was predominantly noted in premature infants weighing < 1000 g (75.2% of those not requested). In stillbirths, the reasons for failure to request were largely unknown with failure to gain permission accounting for only 20.3% of these cases. CONCLUSIONS: The average annual perinatal autopsy rate at the University Hospital of the West Indies between 2002 and 2008 was 54.0%. This is below the internationally recommended rate of 75%. Failure to request an autopsy was the most significant factor contributing to this. The reasons for this are not entirely clear and require further study.

OBJETIVOS: Las altas tasas autopsia perinatal son necesarias para los protocolos institucionales de tratamiento, y el establecimiento de políticas a nivel nacional. Este estudio examina las tasas de autopsia perinatal y los factores que afectan estas tasas, en el Hospital Universitario de West Indies. MÉTODO: Todas las muertes perinatales (mortinatos > 24 semanas de gestación o 500 g; muertes neonatales tempranas, es decir, 0-7 días de nacido) en el Hospital Universitario de West Indies, entre el 2002 de enero y el 2008 de diciembre, fueron sometidas a examen retrospectivo, usando los registros de auditoría perinatales anuales.Las tasas de autopsia anuales fueron calculadas y se analizaron las razones por las que no se hicieron autopsias. RESULTADOS: La tasa de autopsia promedio de mortinatos (MN) fue 59.6% (rango 51.9-76.7%), mientras que la tasa de autopsia promedio de las muertes neonatales tempranas (MNT) fue 47.9% (rango 34.4-63.2), con una tasa promedio general de autopsia perinatal de 54.0% (rango 42.2-62.2). Se requirieron autopsias en 79.3% y 51.7% de los MN y las MNT respectivamente. De las autopsias requeridas, se realizaron 81.7% (75.2% mortinatos; 92.5% MNT). En relación con las MNT, la no solicitud de autopsia se notó predominantemente en infantes prematuros de peso < 1000 g (75.2% de aquéllos no solicitados). Con respecto a los mortinatos, se desconoce en gran medida las razones por las que no se hizo una solicitud, excepto el no haber obtenido permiso, lo cual explica sólo el 20.3% de los casos. CONCLUSIONES: La tasa de autopsia perinatal promedio anual en el Hospital Universitario de West Indies entre 2002 y 2008 fue 54.0%. Esta cifra se halla por debajo de la tasa internacionalmente recomendada de 75%. La no solicitud de una autopsia fue el factor más significativo que contribuyó a ello. Las razones para esto no están completamente claras y requieren estudio posterior.