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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
#1
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
https://www.readbyqxmd.com/read/28634753/fetal-cephaloceles-prenatal-diagnosis-and-course-of-pregnancy-in-65-consecutive-cases
#2
Jan Weichert, Friederike Hoellen, Martin Krapp, Ute Germer, Roland Axt-Fliedner, Andrea Kempe, Annegret Geipel, Christoph Berg, Ulrich Gembruch
PURPOSE: To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers. METHODS: We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome. RESULTS: The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10...
June 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28632735/validity-of-a-minimally-invasive-autopsy-for-cause-of-death-determination-in-stillborn-babies-and-neonates-in-mozambique-an-observational-study
#3
Clara Menendez, Paola Castillo, Miguel J Martínez, Dercio Jordao, Lucilia Lovane, Mamudo R Ismail, Carla Carrilho, Cesaltina Lorenzoni, Fabiola Fernandes, Tacilta Nhampossa, Juan Carlos Hurtado, Mireia Navarro, Isaac Casas, Paula Santos Ritchie, Sonia Bandeira, Sibone Mocumbi, Zara Jaze, Flora Mabota, Khátia Munguambe, Maria Maixenchs, Ariadna Sanz, Inacio Mandomando, Alfons Nadal, Anna Goncé, Carmen Muñoz-Almagro, Llorenç Quintó, Jordi Vila, Eusebio Macete, Pedro Alonso, Jaume Ordi, Quique Bassat
BACKGROUND: Over 5 million stillbirths and neonatal deaths occur annually. Limited and imprecise information on the cause of these deaths hampers progress in achieving global health targets. Complete diagnostic autopsies (CDAs)-the gold standard for cause of death determination-are difficult to perform in most high-burden settings. Therefore, validation of simpler and more feasible methods is needed. METHODS AND FINDINGS: In this observational study, the validity of a minimally invasive autopsy (MIA) method in determining the cause of death was assessed in 18 stillbirths and 41 neonatal deaths by comparing the results of the MIA with those of the CDA...
June 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28624828/unique-imaging-features-enabling-the-prenatal-diagnosis-of-developmental-venous-anomalies-a-persistent-echogenic-brain-lesion-drained-by-a-collecting-vein-in-contrast-with-normal-brain-parenchyma-on-mri
#4
Karina Krajden Haratz, Alon Peled, Boris Weizman, Liat Gindes, Mordechai Tamarkin, Dorit Lev, Dvora Kidron, Liat Ben-Sira, Gustavo Malinger, Tally Lerman-Sagie, Zvi Leibovitz
OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals...
June 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28600484/perinatal-case-of-fatal-simpson-golabi-behmel-syndrome-with-hyperplasia-of-seminiferous-tubules
#5
Nives Zimmermann, Jerzy Stanek
BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel's diverticulum, and abnormal phalanges...
June 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28593008/meckel-gruber-syndrome-ultrasonographic-and-fetal-autopsy-correlation
#6
Shruti Khurana, Vikram Saini, Vibhor Wadhwa, Harveen Kaur
Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.
June 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/28586146/locating-the-level-and-extent-of-congenital-high-airway-obstruction-fluid-in-the-airway-tract-as-reference-points
#7
Mamatha Gowda, Shilpa Gupta, Ashraf Ali, Shanthi Paranthaman
Described here are a series of four cases of congenital high airway obstruction in the fetus. All of the patients presented in the second trimester and all had hydrops fetalis. Three cases had bilateral hyperinflated lungs, midline shift of heart, flattening or inversion of the diaphragm, and fetal ascites. Autopsy was performed in one of these three and showed laryngeal atresia. In one fetus, there was only a unilateral huge enlargement of the lung with mediastinal shift. On autopsy, this fetus had atresia of right main bronchus...
June 6, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#8
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28574580/echographic-features-and-perinatal-outcomes-in-fetuses-with-congenital-absence-of-ductus-venosus
#9
Raquel Garcia-Delgado, Raquel Garcia-Rodriguez, Azahar Romero Requejo, Marta Armas Roca, Luciana Obreros Zegarra, Margarita Medina Castellano, Jose A Garcia Hernandez
The purpose of this study was to describe the echographic features and perinatal outcomes of fetuses with absence of ductus venosus (ADV) MATERIAL AND METHODS: Retrospective review of 10 cases with ADV diagnosed by prenatal ultrasonography between January 2014 and February 2016 at a single referral center. Prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were reviewed RESULTS: A total of 11 491 fetuses underwent a first and second trimester screening during the study period...
June 2, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28569558/persistent-left-superior-vena-cava-in-fetuses-an-autopsy-series
#10
Deepa Ramakrishnan, Shanthi Chidambarathanu, Lata Murli, John Micheal, Sujatha Jagadeesh, Indrani Suresh, Suresh Seshadri
OBJECTIVE: To review fetal autopsy reports with persistent left superior vena cava (PLSVC) and identify its associations. MATERIALS AND METHODS: Autopsy reports of all fetuses diagnosed with PLSVC in our center from January 2011 to December 2015 were reviewed. Fetuses less than 15 weeks gestational age along with autolyzed and damaged hearts were excluded from the study. The study group was compared with controls during this period. RESULTS: Prenatal ultrasound detection rate of PLSVC was 13...
June 1, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28539259/congenital-anomalies-in-tunisia-frequency-and-risk-factors
#11
M Aloui, K Nasri, A M Ben Hamida, R Marrakchi, S S Gaïgi
BACKGROUND: Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS: In this retrospective study, all the fetuses who were autopsied during 21years period from February 1991 to December 2011 (n=9678) at Service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied...
May 21, 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28532528/hepatic-calcifications-in-fetal-population-studied-by-autopsies-in-bogota-colombia
#12
M Olaya-C, S Aldana-M, M Maya-G, F Gil
Fetal hepatic calcifications can be caused by infections, chromosomal disorders, thrombotic events, ischemic hepatic necrosis and subcapsular hematomas among others events. Its features and clinical significance are still not well known. We performed an observational study to describe fetal hepatic calcifications and its association with main clinical and histopathological findings from the fetal autopsy database, between 2007 and 2014. Raw odds ratio analysis was performed. We reviewed 591 fetal autopsies: 14 cases with hepatic calcifications, 102 fetuses with chromosomal disorders; 13 with diagnosis of TORSCH (toxoplasma, rubella, syphilis, cytomegalovirus, herpes virus 1 and 2, and others) and 207 with any abnormality in the umbilical cord (UC)...
May 23, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28521630/isolated-ventricular-noncompaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation
#13
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid Ma Swagemakers, Peter J van der Spek, James Harraway, Joseph Thomas, Deon J Venter
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#14
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28481127/fetal-cardiac-impairment-in-nitrofen-induced-congenital-diaphragmatic-hernia-postmortem-microcomputed-tomography-imaging-study
#15
Gloria Pelizzo, Valeria Calcaterra, Claudio Lombardi, Rossana Bussani, Vanessa Zambelli, Annalisa De Silvestri, Ana Custrin, Manuel Belgrano, Floriana Zennaro
INTRODUCTION: We assessed the post-mortem micro-CT utility to evaluate fetal cardiac impairment in nitrofen-induced congenital diaphragmatic hernia (CDH). METHODS: At 9.5d postconception (dpc), pregnant rats were exposed to nitrofen. At +18 and +21dpc, fetuses were harvested by cesarean section. Postmortem micro-CT and autopsy were performed. Fetuses were assigned to three experimental groups: Control group (C), Nitrofen group (N, exposition to nitrofen without CDH), CDH group...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28455614/-importance-of-investigation-of-fetal-eyes-supplement-to-fetal-autopsy
#16
M C Herwig-Carl, K U Loeffler, A M Müller
The investigation of fetal eyes is a subspecialty, which is performed by only a few ophthalmic pathologists and pathologists in specialized centers. If a certain fetal syndrome is suspected, the fetal eyes should be removed and submitted for ophthalmic pathological investigation in a specialized center. This can provide additional diagnostic information allowing a final classification of a syndrome and the comprehensive genetic counselling of parents with respect to future pregnancies. This article provides an overview of the histopathological findings in fetal eyes, which are of particular relevance for the pediatric pathological autopsy...
April 28, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28453880/predicting-postnatal-renal-function-of-prenatally-detected-posterior-urethral-valves-using-fetal-diffusion-weighted-magnetic-resonance-imaging-with-apparent-diffusion-coefficient-determination
#17
Alice Faure, Nicoleta Panait, Michel Panuel, Pierre Alessandrini, Claude D'Ercole, Kathia Chaumoitre, Thierry Merrot
METHODS: Between 2003 and 2014, 11 MRI were performed on fetuses (between 28-32 weeks) in whom second trimester sonography suggested severe bilateral urinary tract anomalies, suspected of PUV. RESULTS: The ADC of the 11 fetuses ranged from 1.3 to 2.86 mm2 s - 1 (median = 1.79 mm2s - 1, normal range for fetal kidney: 1.1-1.8). Two pregnancies with ADC > 2.6 mm2s - 1 were interrupted; the autopsy confirmed PUV and Potter syndrome. For the remaining nine babies, the follow-up was 5...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28412674/analysis-of-relevant-risk-factors-for-intrauterine-death-of-fetuses-in-the-third-trimester-of-pregnancy
#18
Yang Qiong, Yuan Yichong
Our study aimed to explore the relevant risk factors for intrauterine death of fetuses in the third trimester of pregnancy via a retrospective analysis. Then, 98 pregnant women with intrauterine death of fetuses in the third trimester of pregnancy were enrolled, who had undergone the induced labor of dead fetuses in our hospital from January, 2013 to January, 2015. By taking their disease conditions into considerations, methods of induced labor as softening of cervix with dinoprostone suppositories and amniotic infusion of ethacridine or oxytocin were performed, and the timely cesarean section for termination of pregnancy was performed...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28405085/giant-cystic-umbilical-cord-associated-with-patent-urachus-and-intrauterine-fetal-demise
#19
Kira Brooks, Joseph Guileyardo, Don Le, Jesy Joykutty
True cystic structures within the umbilical cord are rare, and when they persist into the second and third trimester, they are often associated with an abnormal karyotype or other developmental abnormalities. Clinically significant pseudocysts resulting from massive edema of the umbilical cord have been associated with a congenitally patent urachus. We present a case of intrauterine fetal demise at 28 weeks' gestation in which cystic dilatation of the umbilical cord was diagnosed prenatally by ultrasound imaging...
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28403958/practice-of-pathological-examinations-in-stillbirths-a-10-year-retrospective-study
#20
F Jones, P Thibon, M Guyot, A Molin, C Jeanne-Pasquier, B Guillois, G Benoist, M Dreyfus
OBJECTIVES: To describe the practice of fetal and placental pathological examinations in a large series of spontaneous stillbirths over 10 years. MATERIALS AND METHODS: Inclusion of cases recorded by the Lower Normandy Regional Fetal-Infant Mortality Observatory (observatoire régional de mortalité fœto-infantile) from January 1, 2005 to December 31, 2014. The possible cause of death was coded in accordance with the ReCoDe classification system. RESULTS: Seven hundred and forty-four cases were recorded...
January 2017: Journal of gynecology obstetrics and human reproduction
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