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prenatal cardiac diagnosis

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https://www.readbyqxmd.com/read/29753526/prenatally-versus-postnatally-diagnosed-congenital-diaphragmatic-hernia-side-stage-and-outcome
#1
Carmen Mesas Burgos, Björn Frenckner, Matias Luco, Matthew T Harting, Pamela A Lally, Kevin P Lally
AIM: To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH. MATERIAL AND METHODS: We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position...
April 14, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29745329/building-bridges-between-clinical-and-forensic-toxicology-laboratories
#2
Bernardino Barcelo Martin, Isabel Gomila, Valeria Noce
BACKGROUND: Clinical and forensic toxicology can be defined as the two disciplines involved the detection, identification and measurement of xenobiotics in biological and non-biological specimens to help in the diagnosis, treatment, prognosis, prevention of poisonings and to disclose causes and contributory causes of fatal intoxications, respectively. OBJECTIVE: This article explores the close connections between clinical and forensic toxicology in overlapping areas of interest...
May 9, 2018: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/29731786/an-update-work-of-pulse-oximetry-screening-for-detecting-critical-congenital-heart-disease-in-the-newborn
#3
A Taksande, R Meshram, A Lohakare, S Purandare, U Biyani, J Vagha
Background: Congenital Heart Disease (CHD) is the commonest group of congenital malformations and affects 7-8 per 1000 live born newborns. Nevertheless, it is estimated that more than 50% of babies with undiagnosed CHD are not detected by routine neonatal cardiac examination. Aim: To find the incidence of CHD in newborns and to determine the accuracy of pulse oximetry for detecting clinically unrecognized critical congenital heart disease (CCHD) in the newborns...
July 2017: Images in Paediatric Cardiology
https://www.readbyqxmd.com/read/29730740/congenital-portosystemic-shunts-diagnosis-and-treatment
#4
Stéphanie Franchi-Abella, Emmanuel Gonzales, Oanez Ackermann, Sophie Branchereau, Danièle Pariente, Florent Guérin
Congenital portosystemic shunts (CPSS) are rare vascular malformations that create an abnormal connection between portal and systemic veins resulting in complete or partial diversion of the portal flow away from the liver to the systemic venous system. Different anatomic types exist and several classifications have been proposed. They can be associated with other malformations especially cardiac and heterotaxia. The main complications include hepatic encephalopathy, liver tumors, portopulmonary hypertension, and pulmonary arteriovenous shunts...
May 5, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29720150/complexity-of-consenting-for-medical-termination-of-pregnancy-prospective-and-longitudinal-study-in-paris
#5
Georges Abi Tayeh, Jean-Marie Jouannic, Fersan Mansour, Assaad Kesrouani, Elie Attieh
BACKGROUND: We analyzed the patients' perception of prenatal diagnosis of fetal cardiac pathology, and the reasons for choosing to continue with pregnancy despite being eligible to receive a medical termination of pregnancy. We also identified the challenges, the motives interfering in decision-making, and the consequences of the decisions on pregnancy, child and mother. METHODS: This descriptive, prospective and longitudinal study was conducted in France, amongst pregnant women who wished to continue their pregnancy despite an unfavorable medical advice (incurable fetal cardiac pathologies)...
May 2, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29707177/identification-of-a-novel-non-sense-mutation-in-tbx5-gene-in-pediatric-patients-with-congenital-heart-defects
#6
Mehri Khatami, Mohammad Mehdi Heidari, Fatemeh Kazeminasab, Razieh Zare Bidaki
Introduction: Congenital heart diseases (CHDs) are structural cardiovascular malformations that arise from abnormal development of the heart during the prenatal life. Mutations in the TBX5 gene, encoding T-box transcription factor, are a major cause of CHD. To evaluate the TBX5 mutations in hotspot exons in sporadic pediatric patients with CHD phenotypes, analytical case/control study performed in an Iranian cohort of unrelated patients with clinical diagnosis of congenital heart malformations. Methods: We investigated TBX5 coding exons 4, 5, 6 and 7 in 95 sporadic patients with CHD phenotypes and compared to 82 healthy controls using PCR-SSCP and DNA sequencing approaches...
2018: Journal of Cardiovascular and Thoracic Research
https://www.readbyqxmd.com/read/29694994/predicting-the-future-delivery-room-planning-of-congenital-heart-disease-diagnosed-by-fetal-echocardiography
#7
Mary T Donofrio
Advances in prenatal imaging have improved the examination of the fetal cardiovascular system. Fetal echocardiography facilitates the prenatal diagnosis of congenital heart disease (CHD) and through sequential examination, allows assessment of fetal cardiac hemodynamics, predicting the evolution of anatomical and functional cardiovascular abnormalities in utero and during the transition to a postnatal circulation at delivery. This approach allows detailed diagnosis with prenatal counseling and enables planning to define perinatal management, selecting the fetuses at a risk of postnatal hemodynamic instability who are likely to require a specialized delivery plan...
May 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#8
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29685018/three-vessel-trachea-view-in-the-diagnosis-of-fetal-cardiac-great-vessel-malformation
#9
K B Chen, Q Gu, T Xia, X Lu, Z D Zhang
Fetal cardiac great vessel malformation is attracting increasing attention in the prenatal ultrasonic diagnosis of fetal congenital heart disease. To investigate the clinical diagnostic values of three-vessel-trachea view (3VT view) in the ultrasonic diagnosis of this malformation, the present study analyzed the echocardiographic examination results of 77 fetuses with great vessel malformation, retrospectively analyzed the echocardiographic characteristics in the three-vessel-trachea view, and followed up the enrolled cases...
March 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29661969/mutations-in-plasmalemma-vesicle-associated-protein-cause-severe-syndromic-protein-losing-enteropathy
#10
Ilse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, Friederike Körber, Jörg Dötsch, Holger Thiele, Janine Altmüller, Peter Nürnberg, Christoph Hünseler, Sebahattin Cirak
BACKGROUND: Protein-losing enteropathy (PLE) is characterised by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. PLE can manifest as congenital diarrhoea and should be differentiated from other congenital diarrhoeal disorders. Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging. OBJECTIVES: We report an infant with fatal PLE for whom we aimed to uncover the underlying pathogenic mutation...
April 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29553860/characteristics-of-prenatally-detected-right-aortic-arch-cases-in-a-single-institution
#11
Melih Velipasaoglu, Metin Sentürk, Reyhan Ayaz, Barbaros Atesli, H Mete Tanir
This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Seven foetuses had an aberrant left subclavian artery and one foetus had mirror image branching. The prevalence of RAA was 1.8 in 1000. Invasive prenatal diagnosis was offered to patients and seven tests were performed...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29549119/the-case-for-early-use-of-rapid-whole-genome-sequencing-in-management-of-critically-ill-infants-late-diagnosis-of-coffin-siris-syndrome-in-an-infant-with-left-congenital-diaphragmatic-hernia-congenital-heart-disease-and-recurrent-infections
#12
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, Rcigm Investigators
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2...
March 16, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29539628/prenatal-abo-rhd-genotyping-a-new-paradigm-to-allow-for-fresh-whole-blood-for-cardiopulmonary-bypass-in-the-immediate-newborn-period
#13
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29531494/concurrent-septal-and-right-ventricular-aneurysms-detected-on-second-trimester-ultrasound-scan-a-case-report
#14
Esra Ozkavukcu, Andelib Babaturk, Nuray Haliloglu, Tuncay Yuce, Tayfun Ucar
Congenital aneurysms and diverticula of the heart are rare anomalies and their prenatal diagnosis is challenging. Fetuses with suspected cardiac aneurysms on ultrasound (US) screening should undergo targeted fetal echocardiography, postnatal imaging, and follow-ups. Herein, we describe the second trimester US scan and postnatal cardiac magnetic resonance imaging (MRI) findings of a baby girl with concurrent septal and right ventricular cardiac aneurysms. Other cardiac and extra-cardiac structures were normal...
February 2018: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/29501611/12q14-microdeletion-syndrome-a-family-with-short-stature-and-silver-russell-syndrome-srs-like-phenotype-and-review-of-the-literature
#15
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29479265/pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#16
Michael Narvey, Kenny K Wong, Anne Fournier
Pulse oximetry screening is safe, noninvasive, easy to perform and proven to enhance detection of critical congenital heart disease in newborns. However, this test has yet to be adopted as routine practice in Canada. The present practice point highlights essential details and recommendations for screening, which research has shown to be highly specific, with low false-positive rates. Optimal screening for critical congenital heart disease should include prenatal ultrasound, physical examination and pulse oximetry screening...
November 2017: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29460287/chromosomal-aberrations-and-cnvs-in-twin-fetuses-with-cardiovascular-anomalies-comparison-between-monochorionic-diamniotic-and-dichorionic-diamniotic-twins
#17
Yi Zhang, Linhuan Huang, Xuan Huang, Zhiming He, Shaobin Lin, Ye Wang, Lin Li, Yanmin Luo, Qun Fang
OBJECTIVE: To investigate the types of cardiovascular anomalies and the results of invasive prenatal diagnosis in twin fetuses. METHODS: A total of 298 fetuses in 149 twin pairs were enrolled, in which 1 or 2 fetuses of a twin pair had cardiovascular anomalies. Prenatal diagnosis was performed on 290 fetuses of 149 twin pairs, including 150 monochorionic diamniotic (MCDA) fetuses (79 pairs) and 140 dichorionic diamniotic (DCDA) fetuses (70 pairs). G-Banding karyotyping and/or chromosomal microarray analysis were performed...
April 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29455772/prenatal-diagnosis-of-congenital-heart-disease-a-review-of-current-knowledge
#18
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Edward Araujo Júnior
This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29430703/prenatal-diagnosis-of-berry-syndrome-by-fetal-echocardiography-a-report-of-four-cases
#19
Xin Zhang, Xiao-Wei Liu, Xiao-Yan Gu, Jian-Cheng Han, Xiao-Yan Hao, Yu-Wei Fu, Yi-Hua He
Berry syndrome is a rare congenital cardiac malformation. We describe 4 cases of Berry syndrome diagnosed by fetal echocardiography. Based on our experience, the three-vessel view is important for diagnosing the aortopulmonary window and aortic origin of the right pulmonary artery. Furthermore, the true cross-sectional and sagittal views obtained by continuously scanning from the three-vessel-trachea view to the long-axis view of the aortic arch are required to image the interruption or coarctation of the aortic arch...
April 2018: Echocardiography
https://www.readbyqxmd.com/read/29415597/prediction-of-postnatal-arrhythmia-in-fetuses-with-cardiac-rhabdomyoma
#20
Tetsuya Ide, Takekazu Miyoshi, Shinji Katsuragi, Reiko Neki, Ken-Ichi Kurosaki, Isao Shiraishi, Jun Yoshimatsu, Tomoaki Ikeda
OBJECTIVES: Fetal cardiac rhabdomyomas are rare but well-known to be associated with arrhythmia or conduction abnormalities. However, since in utero electrophysiological information is quite limited, it remains unclear which type of rhabdomyoma will develop arrhythmia after birth. The aim of this study is to identify factors that predict postnatal arrhythmia requiring therapy in fetuses with cardiac rhabdomyoma. STUDY DESIGN: A retrospective review of infants prenatally diagnosed with cardiac rhabdomyoma was performed at our tertiary pediatric cardiac center between 1990 and 2016...
February 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
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