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fetal autopsy

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https://www.readbyqxmd.com/read/29441430/prenatal-diagnosis-of-apert-syndrome-using-ultrasound-magnetic-resonance-imaging-and-three-dimensional-virtual-physical-models-three-case-series-and-literature-review
#1
Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior
OBJECTIVE: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models. METHODS: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data...
February 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29438963/health-professionals-and-coroners-views-on-less-invasive-perinatal-and-paediatric-autopsy-a-qualitative-study
#2
Celine Lewis, Melissa Hill, Owen J Arthurs, John C Hutchinson, Lyn S Chitty, Neil Sebire
OBJECTIVE: To assess health professionals' and coroners' attitudes towards non-minimally and minimally invasive autopsy in the perinatal and paediatric setting. METHODS: A qualitative study using semistructured interviews. Data were analysed thematically. RESULTS: Twenty-five health professionals (including perinatal/paediatric pathologists and anatomical pathology technologists, obstetricians, fetal medicine consultants and bereavement midwives, intensive care consultants and family liaison nurses, a consultant neonatologist and a paediatric radiologist) and four coroners participated...
February 8, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29410108/post-mortem-microfocus-computed-tomography-for-early-gestation-fetuses-a-validation-study-against-conventional-autopsy
#3
John C Hutchinson, Xin Kang, Susan Cheng Shelmerdine, Valerie Segers, Claudio M Lombardi, Mieke M Cannie, Neil J Sebire, Jacques C Jani, Owen J Arthurs
BACKGROUND: Perinatal autopsy provides useful clinical information in up to 40% of cases. However, there is a substantial unmet clinical need with regards to post mortem investigation of early gestation fetal loss for parents for whom standard autopsy is either not available or not acceptable. Parents dislike the invasive nature of autopsy, but current clinical imaging techniques do not provide high-enough imaging resolution in small fetuses. We hypothesized that microfocus computed tomography, a rapid, high resolution imaging technique, could give accurate diagnostic imaging following early gestation fetal loss...
January 31, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29377643/causes-of-congenital-malformations
#4
M Hassan Toufaily, Marie-Noel Westgate, Angela E Lin, Lewis B Holmes
BACKGROUND: Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ). METHODS: The presence of malformations was determined among 289,365 births over 41 years (1972-2012) at the Brigham and Women's Hospital in Boston...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29356416/a-neuropathological-study-of-novel-rttn-gene-mutations-causing-a-familial-microcephaly-with-simplified-gyral-pattern
#5
Suzanne Chartier, Caroline Alby, Lucile Boutaud, Sophie Thomas, Nadia Elkhartoufi, Jelena Martinovic, Josseline Kaplan, Alexandra Benachi, Didier Lacombe, Pascale Sonigo, Séverine Drunat, Michel Vekemans, Joël Agenor, Férechté Encha Razavi, Tania Attie-Bitach
BACKGROUND: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed...
January 22, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29336636/a-dysmorphology-based-systematic-approach-toward-perinatal-genetic-diagnosis-in-a-fetal-autopsy-series
#6
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
BACKGROUND: This retrospective study assesses the contribution of genetic disorders in fetuses undergoing postmortem evaluation and the performance of a clinical dysmorphology based systematic approach toward genetic diagnosis. MATERIALS AND METHODS: Ninety fetuses, including spontaneous losses and terminated pregnancies, underwent a postmortem evaluation including dysmorphological examination, radiological studies, and histopathological examination. Genetic testing including karyotyping, biochemical testing, Sanger sequencing, and exome sequencing were performed selectively...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29329932/development-of-the-human-fetal-kidney-from-mid-to-late-gestation-in-male-and-female-infants
#7
Danica Ryan, Megan R Sutherland, Tracey J Flores, Alison L Kent, Jane E Dahlstrom, Victor G Puelles, John F Bertram, Andrew P McMahon, Melissa H Little, Lynette Moore, Mary Jane Black
BACKGROUND: During normal human kidney development, nephrogenesis (the formation of nephrons) is complete by term birth, with the majority of nephrons formed late in gestation. The aim of this study was to morphologically examine nephrogenesis in fetal human kidneys from 20 to 41weeks of gestation. METHODS: Kidney samples were obtained at autopsy from 71 infants that died acutely in utero or within 24h after birth. Using image analysis, nephrogenic zone width, the number of glomerular generations, renal corpuscle cross-sectional area and the cellular composition of glomeruli were examined...
December 20, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29321000/care-quality-following-intrauterine-death-in-spanish-hospitals-results-from-an-online-survey
#8
Paul Richard Cassidy
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...
January 10, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29287134/prenatal-diagnosis-of-total-anomalous-pulmonary-venous-connection-by-2d-and-3d-fetal-echocardiography
#9
Ye Zhang, Qin Shao, Lin Sun, Shuping Ge, Yihua He
OBJECTIVE: Prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC) by fetal echocardiography (FE) remains a challenge. We sought to ascertain the diagnostic accuracy of 2D and 3D spatiotemporal image correlation (STIC) FE and the potential incremental value of 3D STIC FE for prenatal diagnosis and assessment of TAPVC. METHODS: This study was conducted retrospectively in a single tertiary referral center. The study population consisted of 74 TAPVC from 17 063 fetuses by FE from August 2010 to April 2016...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29279948/developmental-patterns-of-fetal-fat-and-corresponding-signal-on-t1-weighted-magnetic-resonance-imaging
#10
Eléonore Blondiaux, Lydia Chougar, Antoinette Gelot, Stéphanie Valence, Etienne Audureau, Hubert Ducou le Pointe, Jean-Marie Jouannic, Ferdinand Dhombres, Catherine Garel
BACKGROUND: Evaluation of subcutaneous fetal fat layer thickness on T1-weighted sequences can be used to predict birth weight. Little is known about normal MR signal patterns of subcutaneous tissue throughout pregnancy. OBJECTIVE: To establish developmental patterns of subcutaneous fetal fat signal on T1-weighted sequences during the 2nd and 3rd trimesters. MATERIALS AND METHODS: We retrospectively examined T1-weighted images of 110 fetal MRI scans...
December 26, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29274205/arthrogryposis-and-pterygia-as-lethal-end-manifestations-of-genetically-defined-congenital-myopathies
#11
Atif A Ahmed, Priya Skaria, Nicole P Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol Saunders
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA...
December 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#12
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29229509/diagnosis-of-congenital-abnormalities-with-post-mortem-ultrasound-in-perinatal-death
#13
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
#14
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 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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