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prenatal cardiac diagnosis

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https://www.readbyqxmd.com/read/29313307/prenatal-and-postnatal-diagnosis-of-rhabdomyomas-and-tuberous-sclerosis-complex-by-ultrafast-and-standard-mri
#1
Ying Zhou, Su-Zhen Dong, Yu-Min Zhong, Ai-Min Sun
OBJECTIVE: To examine the features of cardiac rhabdomyomas and tuberous sclerosis in fetuses and infants using magnetic resonance imaging (MRI) and to determine whether MRI is an effective tool to facilitate early detection of tuberous sclerosis complex (TSC). METHODS: Fifteen patients with TSC were evaluated by ultrafast or standard MRI between June 2005 and September 2016. Fifteen patients were divided into two groups. Group A included five cases in utero and followed in infancy with gestational ages from 26 + 1 to 38 + 2 wk...
January 9, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29287138/4d-fetal-echocardiography-an-update
#2
Greggory R DeVore, Gary Satou, Mark Sklansky
With the introduction of the electronic 4-dimensional and spatial-temporal image Correlation (e-STIC), it is now possible to obtain large volume datasets of the fetal heart that are virtually free of artifact. This allows the examiner to use a number of imaging modalities when recording the volumes that include two-dimensional real time, power and color Doppler, and B-flow images. Once the volumes are obtained, manipulation of the volume dataset allows the examiner to recreate views of the fetal heart that enable examination of cardiac anatomy...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287130/a-brief-history-of-fetal-echocardiography-and-its-impact-on-the-management-of-congenital-heart-disease
#3
Dev Maulik, Navin C Nanda, Devika Maulik, Gustavo Vilchez
Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time-motion mode, two-dimensional B-mode, spectral Doppler, color Doppler, and three- and four-dimensional cardiac imaging...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29261186/genomic-study-of-severe-fetal-anomalies-and-discovery-of-greb1l-mutations-in-renal-agenesis
#4
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey, Elisabeth Flori, Mireille Cloutier, David Dyment, Philippe Campeau, Aspasia Karalis, Sonia Nizard, William D Fraser, François Audibert, Emmanuelle Lemyre, Guy A Rouleau, Fadi F Hamdan, Zoha Kibar, Jacques L Michaud
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29251180/maternal-steroid-therapy-for-fetuses-with-immune-mediated-complete-atrioventricular-block-a-systematic-review-and-meta-analysis
#5
Andrea Ciardulli, Francesco D'Antonio, Elena Rita Magro-Malosso, Gabriele Saccone, Lamberto Manzoli, Mackenzy Radolec, Vincenzo Berghella
INTRODUCTION: To explore the effect of maternal fluorinated steroid therapy on fetuses affected by immune-mediated complete atrio-ventricular block (CAVB) in utero. MATERIAL AND METHODS: Pubmed, Embase, Cinahl and ClinicalTrials.gov databases were searched. Only studies reporting the outcome of fetuses with immune CAVB diagnosed on prenatal ultrasound without any cardiac malformations and treated with fluorinated steroids compared to those not treated were included...
December 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29221765/advances-in-fetal-echocardiography
#6
REVIEW
Helena M Gardiner
The development of fetal echocardiography and success in prenatal cardiac screening programs over the past 30 years has been driven by technical innovation and influenced by the different approaches of the various specialties practicing it. Screening for congenital heart defects no longer focuses on examining a limited number of pregnant women thought to be at increased risk, but instead forms an integrated part of a high-quality anatomical ultrasound performed in the second trimester using the 'five-transverse view' protocol...
December 5, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#7
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#8
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29178641/pediatric-healthcare-costs-for-patients-with-22q11-2-deletion-syndrome
#9
Peter Benn, Sushma Iyengar, Terrence Blaine Crowley, Elaine H Zackai, Evanette K Burrows, Solomon Moshkevich, Donna M McDonald-McGinn, Kathleen E Sullivan, Zachary Demko
BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29170360/sex-specific-cardiovascular-susceptibility-to-ischaemic-myocardial-injury-following-exposure-to-prenatal-hypoxia
#10
Michal Zeman, Monika Okuliarova
Cardiovascular diseases (CVDs) are the leading cause of mortality and hypertension contributes substantially to the incidence of stroke, coronary artery disease, heart failure, atrial fibrillation and peripheral vascular disease. The origin of hypertension is clearly multifactorial, and a complex and multifaceted approach is necessary to decrease its incidence. The most recognizable factors involved in reducing the incidence of hypertension are prevention, early diagnosis and treatment; however, the importance of the foetal environment and early postnatal development has recently been considered...
December 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29145274/diagnosis-of-fetal-megacystis-with-chromosomal-abnormality-by-2d-prenatal-ultrasound-a-case-report
#11
Fuman She, Shengwen Dong, Bibo Yuan, Xiaoli Gao
RATIONALE: The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. PATIENT CONCERNS: The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall. DIAGNOSES: Here, we present a case of fetal megacystis diagnosed by ultrasound at pregnancy week 15+2 and with multisystem abnormalities...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#12
MULTICENTER STUDY
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29100908/quality-of-life-in-children-participating-in-a-non-selective-inr-self-monitoring-vka-education-programme
#13
Pascal Amedro, Fanny Bajolle, Helena Bertet, Radhia Cheurfi, Dominique Lasne, Erika Nogue, Pascal Auquier, Marie-Christine Picot, Damien Bonnet
BACKGROUND: The quality of life (QoL) of children receiving vitamin K antagonist (VKA) treatment has been scarcely studied. AIM: To assess QoL of children, and its evolution, throughout our non-selective international normalized ratio (INR) self-monitoring education programme. METHODS: Children and parents completed QoL questionnaires (Qualin, PedsQL) during education sessions. Scores were compared with those from controls. RESULTS: A total of 111 children (mean±standard deviation age 8...
October 31, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/29094357/systematic-review-and-meta-analysis-of-the-performance-of-second-trimester-screening-for-prenatal-detection-of-congenital-heart-defects
#14
Christine L van Velzen, Johannes C F Ket, Peter M van de Ven, Nico A Blom, Monique C Haak
BACKGROUND: The prenatal detection rate of congenital heart defects (CHDs) is increasing, but reported rates vary. OBJECTIVE: To determine the performance of the second-trimester anomaly scan to detect CHD. SEARCH STRATEGY: PubMed and Embase were searched for relevant studies in any language from inception to February 3, 2017. The search terms included "prenatal diagnosis" or "pregnancy," "cardiovascular diseases" or "cardiac defects," "congenital," and "specificity," or "sensitivity," or "cohort study...
November 2, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29078654/unusual-case-of-subxiphoid-uniportal-vats-right-upper-lobectomy-in-a-patient-with-interrupted-inferior-vena-cava-with-azygous-continuation
#15
Firas Emad Abu Akar, Chenlu Yang, Yiming Zhou, Lei Lin, Diego Gonzalez-Rivas, Lei Jiang
Interrupted IVC (also known as Azygos continuation of the inferior vena cava) is a relatively uncommon congenital condition with prevalence 1.5% (0.2-3%) of the general population (Bass et al.). Although it's usually asymptomatic condition, splenic or cardiac abnormalities could be associated (Hardwick et al.). Incidental diagnosis during prenatal ultrasound screening or by routine imaging is the most common scenario. Special attention is required during right side thoracic procedures surgical resections in order to avoid scarifying the azygos vein that could lead to fatal results (Effler et al...
2017: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#16
F J Murcia Pascual, L Delgado Cotán, V Jiménez Crespo, F Vázquez Rueda, E Rodríguez Cano, M Miño Mora, R M Paredes Esteban
OBJECTIVES: To assess the accuracy of prenatal ultrasound diagnosis and to analyze the protocol applied for congenital defects (CD) in our environment. METHODS: Descriptive study of prenatally diagnosed CD in our area between 2004-2013. Includes: total births, fetal medicine referrals (number of consultations, ultrasound, invasive techniques) anatomical and chromosomal abnormalities, confirmed diagnoses, necropsies performed, false diagnoses, absence of prenatal diagnoses, and number and reasons for abortions (VIEs)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29027708/advancing-prenatal-detection-of-congenital-heart-disease-a-novel-screening-protocol-improves-early-diagnosis-of-complex-congenital-heart-disease
#17
Karen M Letourneau, David Horne, Reeni N Soni, Keith R McDonald, Fern C Karlicki, Randy R Fransoo
OBJECTIVES: Prenatal diagnosis of complex congenital heart disease (CHD) during routine obstetric ultrasound (US) examinations improves postnatal outcomes, but sensitivity is low (<40%). Our objective was to improve our prenatal detection of complex CHD with implementation of a specific screening protocol. METHODS: From January 2003 to December 2013, 506 consecutive confirmed cases of complex CHD in the province of Manitoba, Canada, were analyzed to compare the sensitivity and positive predictive value of prenatal US detection of complex CHD before and after the introduction of a novel prenatal screening protocol...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28981940/-prenatal-genetic-analysis-of-a-fetus-with-wolf-hirschhorn-syndrome-and-edward-syndrome
#18
Xueping Shen, Pingya He, Rong Fang, Juan Yao, Wenwen Li
OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28969470/the-reverse-boomerang-sign-a-marker-for-first-trimester-transposition-of-great-arteries
#19
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Edward Araujo Júnior, Fabricio Da Silva Costa, Simon Meagher
OBJECTIVE: To describe a new sonographic marker of transposition of great arteries (TGA) during the first-trimester screening. METHODS: We reviewed six cases of TGA from 2013 to 2016 in which an antenatal diagnosis of TGA at first-trimester screening (11-13 + 6 weeks of gestation) was confirmed postnatally. We specifically assessed images obtained by scanning the fetal heart in three vessels (3V) and three-vessel with trachea (3VT) views using color Doppler...
October 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28926132/prenatal-diagnosis-of-total-and-partial-anomalous-pulmonary-venous-connection-multicentre-cohort-study-and-meta-analysis
#20
REVIEW
Dario Paladini, Angela Pistorio, L H Wu, Gabriella Meccariello, Ting Lei, Giulia Tuo, Gloria Donarini, Maurizio Marasini, Hong-Ning Xie
OBJECTIVES: Aim of this study is to describe the sonographic features and associations of Total and Partial Anomalous Pulmonary Venous Connection (TAPVC, PAPVC) and scimitar syndrome (SS) and to review the relevant literature systematically in order to underline the associations and the sonographic features more frequently associated with these conditions. METHODOLOGY: Retrospective cohort study. Assessed variables include: TAPVC subtype, gestational age at diagnosis, area behind LA, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extra-cardiac conditions, pregnancy and feto-neonatal outcome...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
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