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https://www.readbyqxmd.com/read/28821323/post-mortem-magnetic-resonance-pmmr-imaging-of-the-brain-in-fetuses-and-children-with-histopathological-correlation
#1
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
#2
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 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28803536/bovine-viral-diarrhea-virus-1b-fetal-infection-with-extensive-hemorrhage
#3
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...
August 1, 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
#4
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
#5
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
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#6
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#7
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28748650/autopsy-findings-in-epg5-related-vici-syndrome-with-antenatal-onset
#8
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28741114/-fetal-autopsies-relic-or-still-a%C3%A2-gold-standard
#9
J Andruszkow, W Weichert, T Braunschweig, R Knüchel-Clarke, F Erlmeier
BACKGROUND: Fetal autopsy rates are decreasing in Western countries although post-mortem examinations render important information for the parents concerning the cause of abortion and risk of recurrence in future pregnancies. OBJECTIVE: The intention of the presented study was to analyze the development of fetal autopsies in Germany during the last decade and to review accessible information obtained by fetal autopsy. MATERIAL AND METHODS: Reports of fetal autopsies conducted in two German university Institutes of pathology between 2005 and 2014 were evaluated retrospectively...
July 24, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28737875/-intestinal-cystic-duplication-case-report
#10
Ana Herranz Barbero, Jordi Prat Ortells, M Elena Muñoz Fernández, Montserrat Castañón García-Alix, Josep Figueras Aloy
Intestinal cystic duplications are rare congenital anomalies, with an estimated incidence of approximately 1:4500 autopsies. The etiopathogenesis is uncertain. These duplications are cystic, tubular or diverticular structures lined with gastrointestinal mucosa. They share a common smooth muscle wall with the gastrointestinal tract but usually their lumens do not communicate with each other. Gastric duplication cysts represent 7-9% of the gastrointestinal tract duplication. They can be diagnosed prenatally by fetal ultrasound; magnetic resonance imaging characterizes the cyst and excludes other malformations...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737006/unrecognized-viral-infections-and-chromosome-abnormalities-as-a-cause-of-fetal-death-examination-with-fluorescence-in%C3%A2-situ-hybridization-immunohistochemistry-and-polymerase-chain-reaction
#11
Bente Ediassen Opsjøn, Svein Arne Nordbø, Christina Vogt
Fifteen to 50% of fetal deaths remain unexplained after post-mortem examination depending on inclusion criteria and classification systems. Our aim was to examine a selection of unexplained fetal deaths in order to investigate whether any common chromosome aberrations or viral infections were present. Reports from 351 fetal autopsies performed at the Department of Pathology and Medical Genetics at St. Olavs University Hospital from 2001 through 2010 were reviewed. Of these, 105 fetal deaths were classified as unexplained...
September 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28736088/fetopathological-examination-for-the-fetuses-with-down-syndrome-in-tunisia-epidemiological-study-and-associated-malformations
#12
Meriem Aloui, Kaouther Nasri, Nadia Ben Jemaa, Meriem Sahraoui, Aida Masmoudi, Dorra Zghal, Dalenda Chelli, Habiba Chaâbouni, Abdel Majid Ben Hamida, Soumeya Siala Gaigi, Raja Marrakchi
BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome...
May 8, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#13
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28727969/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#14
E Fletcher, M Porteous, K J McKenzie, E J Maher, M J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome/genome sequencing and the issues these technologies may generate. A systematic review of fetal postmortems at 12-24 weeks gestation between January 2011 and December 2014 was undertaken. Cases where there was no consent for audit, research, or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths, and neonatal deaths...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28709949/pulmonary-hypoplasia
#15
REVIEW
C Michael Cotten
To survive the transition to extrauterine life, newborn infants must have lungs that provide an adequate surface area and volume to allow for gas exchange. The dynamic activities of fetal breathing movements and accumulation of lung luminal fluid are key to fetal lung development throughout the various phases of lung development and growth, first by branching morphogenesis, and later by septation. Because effective gas exchange is essential to survival, pulmonary hypoplasia is among the leading findings on autopsies of children dying in the newborn period...
July 11, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28683731/nephron-development-and-extrarenal-features-in-a-child-with-congenital-nephrotic-syndrome-caused-by-null-lamb2-mutations
#16
Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
BACKGROUND: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. CASE PRESENTATIONS: An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy...
July 6, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28677366/neuropathological-protocol-for-the-study-of-unexplained-stillbirth
#17
Luca Roncati, Francesco Piscioli, Teresa Pusiol, Anna M Lavezzi
<i>An updated neuropathological protocol for the examination of the nervous system in case of unexplained stillbirth has been elaborated and presented in this review. It is focused on the examination of the nervous centers located in the brainstem, which are involved in monitoring the vital functions. Only through a deep analysis of the brainstem it is possible to highlight developmental alterations of these essential centers, and then provide a plausible explanation of the pathogenetic mechanism behind the death...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28670732/prenatal-sonographic-diagnosis-of-nondysraphic-intramedullary-lipomas-a-case-report
#18
Ning Shang, Qiuping Ma, Chunyan Ouyang, Jiali Zhang, Penghui Han, Gang Yu
Nondysraphic intramedullary lipomas of the spinal cord are rare, and there are currently no reports of their observation in utero. Here, we present the sonographic (US) findings in such a case. Four intraspinal hyperechoic masses were observed on US on the dorsal aspect of the fetal spine in a 30-year-old woman at 30 weeks' gestation. Findings were consistent with those of prenatal MRI and were confirmed on autopsy after induced abortion. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound, 2017.
July 2, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28657126/a-homozygous-i684t-in-gle1-as-a-novel-cause-of-arthrogryposis-and-motor-neuron-loss
#19
Teija Paakkola, Katri Vuopala, Hannaleena Kokkonen, Jaakko Ignatius, Marita Valkama, Jukka S Moilanen, Somayyeh Fahiminiya, Jacek Majewski, Reetta Hinttala, Johanna Uusimaa
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as Lethal congenital contracture syndrome 1 (LCCS1) and Lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. The homozygous FinMajor mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound FinMajor mutation together with p.R569H, p...
June 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28641477/application-of-whole-genome-sequencing-technology-in-the-investigation-of-genetic-causes-of-fetal-perinatal-and-early-infant-death
#20
Jane E Armes, Mark Williams, Gareth Price, Tristan Wallis, Renee Gallagher, Admire Matsika, Christopher Joy, Melanie Galea, Glenn Gardener, Rick Leach, Sigrid Ma Swagemakers, Rick Tearle, Andrew Stubbs, James Harraway, Peter J van der Spek, Deon J Venter
Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death...
January 1, 2017: Pediatric and Developmental Pathology
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