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https://www.readbyqxmd.com/read/29229509/diagnosis-of-congenital-abnormalities-with-post-mortem-ultrasound-in-perinatal-death
#1
L Tuchtan, E Lesieur, C Bartoli, C Delteil, L Sarda-Quarello, J Torrents, S Sigaudy, M-D Piercecchi, G Gorincour
PURPOSE: To determine the sensitivity and specificity of post-mortem ultrasound in the diagnosis of major congenital abnormalities of fetuses using conventional autopsy as the standard of reference. MATERIAL AND METHODS: All fetuses coming from terminations of pregnancy or intrauterine fetal deaths in a single institution were included. A total of 75 fetuses were included during the study period. The results of post-mortem ultrasound examinations were compared to those of conventional autopsy that served as standard of reference...
December 8, 2017: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/29206544/a-complication-of-percutaneous-sclerotherapy-for-congenital-pulmonary-airway-malformation-intravascular-injection-and-cardiac-necrosis
#2
Andrew H Chon, Moe R Takeda, Juan C Felix, Ramen H Chmait
INTRODUCTION: A congenital pulmonary airway malformation (CPAM) type III may become large enough to cause hydrops fetalis. In such circumstances, the fetus can be treated with open fetal resection, maternal betamethasone administration, or percutaneous sclerotherapy. CASE REPORT: A 24 week gestation fetus with a CPAM type III was treated by percutaneous sclerotherapy using ethanolamine oleate (EO). The EO inadvertently entered the left atrium and ventricle with subsequent fetal bradycardia and demise...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29194579/targeted-gene-sequencing-and-whole-exome-sequencing-in-autopsied-fetuses-with-prenatally-diagnosed-kidney-anomalies
#3
M Rasmussen, L Sunde, M L Nielsen, M Ramsing, A Petersen, T D Hjortshøj, T E Olsen, A Tabor, J M Hertz, I Johnsen, L Sperling, O B Petersen, U B Jensen, F G Møller, M B Petersen, D L Lildballe
Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney-panel...
November 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29187034/growth-restriction-osteopenia-placental-massive-perivillous-fibrin-deposition-with-or-without-intervillous-histiocytes-and-renal-tubular-dysgenesis-an-emerging-complex
#4
Sahar Abdulghani, Felipe Moretti, Peter Gj Nikkels, Suonavy Khung-Savatovsky, Julie Hurteau-Miller, David Grynspan
We describe a case of a pregnancy complicated by early onset asymmetric growth restriction with anhydramnios with termination occurring at 21 weeks. Fetal autopsy showed demineralization of bones and renal tubular dysgenesis. Placental pathology showed features of massive perivillous fibrin deposition and chronic histiocytic intervillositis. We review prior documentation of this association and briefly discuss potential pathogenesis.
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29182088/perinatal-maternal-mortality-in-sickle-cell-anemia-two-case-reports-and-review-of-the-literature
#5
Sanaa Rizk, Elizabeth D Pulte, David Axelrod, Samir K Ballas
As outcomes of patients with sickle cell anemia improve and survival into adulthood with good quality of life and expectation of long-term survival becomes more common, challenges have developed, including issues related to reproduction. Pregnancy is frequently complicated in patients with sickle cell anemia with mortality up to 4.0%. Here we report maternal perinatal mortality in two women with sickle cell anemia who died post-partum due to acute chest syndrome (ACS), caused by bone marrow fat embolism and review the literature pertinent to this subject...
November 28, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29112857/tongue-development-in-stillborns-autopsied-at-different-gestational-ages
#6
Laura S Aguiar, Guilherme R Juliano, Luciano A M Silveira, Mariana S Oliveira, Bianca G S Torquato, Gabriela R Juliano, Márcia F Araújo, Sanivia Aparecida L Pereira, Vicente de Paula A Teixeira, Mara Lúcia F Ferraz
OBJECTIVES: This study aimed to analyze, through the morphometric method, the perimeter and length of the tongue, the collagen fibers, and the perimeter of blood vessels at different gestational ages and fetal weights. MATERIAL AND METHODS: Tongues (n=55) of stillborns autopsied at 23-40 weeks of gestational age were macroscopically analyzed, and their length and perimeter were measured. Fifty-five tongue fragments were collected through a longitudinal section in the region that accompanies the median lingual sulcus and histologically processed...
November 4, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/29096166/lung-and-liver-growth-and-retinoic-acid-status-in-human-fetuses-with-congenital-diaphragmatic-hernia
#7
Christine K C Loo, Michael A Pearen, Tamara N Pereira, Joanna Perry-Keene, Diane Payton, Grant A Ramm
BACKGROUND: Abnormal retinoic acid (RA) signalling is considered a major cause of congenital diaphragmatic hernia (CDH). Pulmonary hypoplasia and pulmonary hypertension are the major causes of morbidity and mortality in infants born with CDH. Experimental studies in animals have found that RA signalling is involved in lung and liver development, but animal models of CDH do not directly correlate with CDH in human fetuses. This study investigated if RA status is also linked to lung and liver growth in human fetuses with CDH...
October 30, 2017: Early Human Development
https://www.readbyqxmd.com/read/29089165/a-case-of-intrauterine-lethal-fetal-injury-after-attempted-suicide-of-the-mother
#8
Lucia Tattoli, Giancarlo Di Vella, Biagio Solarino
Traumatic injuries in pregnancy such as abdominal trauma, pelvic fractures and penetrating trauma are major causes of maternal and neonatal morbidity and mortality. The most common causes of trauma during pregnancy are motor vehicle accidents, falls, assaults, gunshots, and burns. Pregnancy itself has been identified as a risk factor for trauma, together with a younger age, drug use, alcohol use, and domestic violence. We report the case of a 46-year-old woman, 34 weeks pregnant, who attempted suicide by jumping from a flyover, immediately after a probably deliberate traffic collision with the guardrail...
October 18, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29065802/transabdominal-recordings-of-fetal-heart-rate-in-extremely-small-fetuses
#9
Hein Odendaal, Coen Groenewald, Gary D V Hankins, Carlie du Plessis, Michael M Myers, William P Fifer
INTRODUCTION: As part of the fetal assessment for the Safe Passage Study, we recorded raw data of the fetal ECG via five maternal abdominal wall electrodes from 20 weeks to 23 weeks 6 days' gestation. MATERIALS: For this study were extracted and analyzed the FHR patterns from the stored raw data in 16 stillbirths where the fetus weighed less than 1000 g and where autopsy was performed. RESULTS: Birth weights ranged from 190 to 970 g. The proportion FHR signal loss ranged from 0...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#10
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28954562/arthrogryposis-multiplex-congenita-in-utero-radiologic-and-pathologic-findings
#11
Priya Skaria, Amy Dahl, Atif Ahmed
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development...
September 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28898573/alternatives-to-autopsy-for-fetal-and-early-neonatal-perinatal-deaths-insights-from-the-wisconsin-stillbirth-service-program
#12
Elspeth McPherson, Eirini Nestoridi, Dominique Heinke, Drucilla J Roberts, Ruth Fretts, Mahsa M Yazdy, Angela E Lin
BACKGROUND: Although autopsy is a key component of the etiologic evaluation following fetal and early neonatal death, and traditionally has been the preferred method to determine the cause of death, an alternative may be suitable when traditional autopsy by a perinatal pathologist is not available or declined. METHODS: Among 3137 cases evaluated through the Wisconsin Stillbirth Service Program (WiSSP), a community-based program for etiologic evaluation of second trimester miscarriage, stillbirth, and early neonatal death, most diagnoses are based on multiple types of data including placental pathology, clinical examination, photographs, maternal records, radiographs, and laboratory testing...
September 12, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/28859338/human-brain-abnormalities-associated-with-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#13
Jessica S Jarmasz, Duaa A Basalah, Albert E Chudley, Marc R Del Bigio
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28842753/-autopsy-rates-in-germany
#14
M Grassow-Narlik, M Wessolly, J Friemann
BACKGROUND: In 2015 the German professional Association of Pathologists conducted a survey to establish a baseline for an autopsy rate in Germany and to collect data from 2005-2014, as hospitals must meet a fixed autopsy quota to receive the supplementary payment for autopsies as stated in the law for hospital structure (KHSG 10.12.2015). MATERIAL AND METHODS: The survey comprised 12 questions and was sent to 450 institutes of pathology. The overall return rate was 38%...
September 2017: Der Pathologe
https://www.readbyqxmd.com/read/28841576/diagnostic-value-of-perinatal-autopsies-analysis-of-486-cases
#15
Nalan Neşe, Yeşim Bülbül
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)...
August 25, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28821323/post-mortem-magnetic-resonance-pmmr-imaging-of-the-brain-in-fetuses-and-children-with-histopathological-correlation
#16
REVIEW
S C Shelmerdine, J C Hutchinson, N J Sebire, T S Jacques, O J Arthurs
Post-mortem magnetic resonance (PMMR) imaging is rapidly emerging as an alternative, "less invasive", and more widely accepted investigative approach for perinatal deaths in the UK. PMMR has a high diagnostic accuracy for congenital and acquired fetal neuropathological anomalies compared to conventional autopsy, and is particularly useful when autopsy is non-diagnostic. The main objectives of this review are to describe and illustrate the range of common normal and abnormal central nervous system (CNS) findings encountered during PMMR investigation...
August 15, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#17
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28803536/bovine-viral-diarrhea-virus-1b-fetal-infection-with-extensive-hemorrhage
#18
Robert W Fulton, Anthony W Confer, Nicholas J Sorensen, Julia F Ridpath, Lurinda J Burge
Bovine viral diarrhea virus (BVDV) 1b was isolated from tissues of a term bovine fetus with petechial hemorrhages noted throughout the body and placenta at autopsy. Fresh lung, kidney, thymus, and liver tissues were examined by direct fluorescent antibody testing and were positive for BVDV antigen and negative for bovine herpesvirus 1 antigen. An organ pool of fresh tissues was positive for noncytopathic (NCP) BVDV-1 by virus isolation. BVDV-1b was identified by sequencing of the 5'-UTR region of the genome...
November 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28782198/postmortem-examination-of-human-fetuses-a-comparison-of-2-dimensional-ultrasound-with-invasive-autopsy
#19
Xin Kang, Susan C Shelmerdine, Ivan Hurtado, Elisa Bevilacqua, Ciaran Hutchinson, Uday Mandalia, Valerie Segers, Teresa Cos Sanchez, Mieke M Cannie, Andrew Carlin, Neil J Sebire, Owen J Arthurs, Jacques C Jani
OBJECTIVE: To compare the diagnostic usefulness of postmortem ultrasound with invasive autopsy in fetuses at different gestational ages. METHODS: We performed postmortem 2-dimensional ultrasound on 163 fetuses at 13-42 weeks gestation, blinded to clinical details. Logistic regression analysis was used to investigate the effect on non-diagnostic results of gestational age during postmortem ultrasound, presence of maceration, and cause of death. In 123 cases where invasive autopsy was available, the diagnostic accuracy of ultrasound in detecting major organ abnormalities was evaluated, using invasive autopsy as a gold standard...
August 7, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28767982/description-of-an-oral-chagas-disease-outbreak-in-venezuela-including-a-vertically-transmitted-case
#20
Belkisyolé Alarcón de Noya, Gladymar Pérez-Chacón, Zoraida Díaz-Bello, Sonia Dickson, Arturo Muñoz-Calderón, Carlos Hernández, Yadira Pérez, Luciano Mauriello, Eyleen Moronta
We describe the eleventh major outbreak of foodborne Trypanosoma cruzi transmission in urban Venezuela, including evidence for vertical transmission from the index case to her fetus. After confirming fetal death at 24 weeks of gestation, pregnancy interruption was performed. On direct examination of the amniotic fluid, trypomastigotes were detected. T. cruzi specific-polymerase chain reaction (PCR) also proved positive when examining autopsied fetal organs. Finally, microscopic fetal heart examination revealed amastigote nests...
August 2017: Memórias do Instituto Oswaldo Cruz
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