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https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#1
Yi Zhang, Shaobing Lin, Qun Fang
Sotos syndrome (OMIM#117550) is a overgrowth syndrome caused by mutations of the NSD1 gene.(1) The clinical manifestations include macrocephaly, tall stature, cardiac anomalies, and behavioral problems.(2,3) Affected individuals also have an increased risk of neoplasms. This article is protected by copyright. All rights reserved.
July 20, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#2
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28693354/perinatal-outcomes-of-congenital-heart-disease-after-emergent-neonatal-cardiac-procedures
#3
Aline Wolter, Helene Holtmann, Andreea Kawecki, Jan Degenhardt, Christian Enzensberger, Oliver Graupner, Hakan Akintürk, Can Yerebakan, Markus Khalil, Dietmar Schranz, Roland Axt-Fliedner
PURPOSE: We compared outcome of neonates with prenatal and postnatal diagnosis of congenital heart disease presenting in our paediatric heart centre between 2005-05/2015 who underwent an emergent intervention within 48 hours postpartum. MATERIALS AND METHODS: In 52/111 (46.8%) with emergent intervention, congenital heart disease was diagnosed prenatally, in 59/111 (53.2%) with no specialized fetal echocardiography, diagnosis was made postnatally. In 98/111 (88...
July 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28659645/single-giant-mediastinal-rhabdomyoma-as-a-sole-manifestation-of-tsc-in-foetus
#4
Marek Godava, Hana Filipova, Lubomir Dubrava, Radek Vrtel, Kamila Michalkova, Maria Janikova, Lenka Bakaj-Zbrozkova, Jiri Navratil
BACKGROUND: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. CASE REPORT: This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth...
June 12, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28657663/next-generation-deep-sequencing-corrects-diagnostic-pitfalls-of-traditional-molecular-approach-in-a-patient-with-prenatal-onset-of-pompe-disease
#5
Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, David M Koeller, Jing Wang, Lee-Jun C Wong
Pompe disease is a rare inherited metabolic disorder of glycogen metabolism caused by mutations in the GAA gene, encoding the acid α-1,4 glucosidase. Successful diagnosis of Pompe disease is achieved by clinical and biochemical evaluation followed by confirmation with DNA testing. Here, we report a male infant with a prenatal onset of cardiac symptoms and enzyme testing consistent with Pompe disease, but DNA testing by Sanger sequencing revealed no pathogenic variants. Due to the strong indication from clinical, enzymatic, and histological studies (despite the absence of molecular confirmation by traditional Sanger sequencing), enzyme replacement therapy (ERT) for Pompe disease was initiated...
June 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#6
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#7
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28614975/prenatal-diagnosis-of-fetal-right-and-left-congenital-ventricular-aneurysms
#8
Mamatha Gowda, Shree Bharathi, Monica Thiagarajan, Tripti Aneja
AIM: To describe the ultrasonographic appearance of fetal ventricular aneurysm. METHODS: Ultrasound characteristics of two cases of prenatally diagnosed fetal ventricular aneurysm were reviewed. RESULTS: There was one case of left ventricular aneurysm diagnosed by prenatal ultrasound at 38 weeks of gestation. Another case of fetal right ventricular aneurysm was diagnosed prenatally at 36 weeks of gestation. Both the babies expired in the immediate post-natal period...
June 28, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28608354/-presumed-perinatal-ischemic-stroke-risk-factors-and-clinical-and-radiological-findings
#9
N Villora-Morcillo, C Cordero-Castro, M Berenguer-Potenciano, J I Rodriguez-Martin, L Lucendo-Jimenez, A Camacho-Salas
INTRODUCTION: Presumed perinatal ischemic stroke is a frequent cause of neurological sequelae. We aimed to describe the different clinical findings and risk factors and to analyse the differences according the vascular origin. PATIENTS AND METHODS: Retrospective, descriptive study of patients diagnosed with presumed perinatal ischemic stroke attended at a tertiary pediatric hospital from 1990 to 2015. RESULTS: 44 patients were included. A total of 24 patients (55%) had arterial ischemic stroke and 20 (45%) had periventricular venous infarction...
June 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28603940/outcome-of-prenatally-diagnosed-fetal-heterotaxy-a-systematic-review-and-meta-analysis
#10
REVIEW
Danilo Italo Pio Buca, Asma Khalil, Giuseppe Rizzo, Alessandra Familiari, Silvia Di Giovanni, Marco Liberati, Daniela Murgano, Alessandra Ricciardulli, Francesco Fanfani, Giovanni Scambia, Francesco D'Antonio
OBJECTIVES: To assess the perinatal outcomes of fetuses affected by heterotaxy. METHODS: Medline, Embase and Cinhal were searched. Only studies reporting a prenatal diagnosis of isomerism were included. The outcomes observed were: associated cardiac and extra-cardiac anomalies, fetal arrhythmias, abnormal karyotype, type of surgical repair and perinatal mortality. The analysis was stratified according the type of heterotaxy syndrome (left, LAI, and right, RAI, atrial isomerism)...
June 12, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28592338/prenatal-diagnosis-of-isolated-total-anomalous-systemic-venous-connection-to-the-left-atrium
#11
Béatrice Miltner, Alain Jean Poncelet, Catherine Barrea
We report the prenatal diagnosis and the neonatal follow-up of a patient with isolated total abnormal systemic venous connection to the left atrium. Right-sided and left-sided superior caval veins and the inferior caval vein were all connected to the left atrium. Pulmonary venous return was normal. This was associated with some right ventricular underdevelopment. To our knowledge, this is the first fetal description of this very rare congenital cardiac malformation.
June 8, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28578168/neonatal-outcomes-in-fetuses-with-cardiac-anomalies-and-the-impact-of-delivery-route
#12
Laura I Parikh, Katherine L Grantz, Sara N Iqbal, Chun-Chih Huang, Helain J Landy, Melissa H Fries, Uma M Reddy
BACKGROUND: Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. OBJECTIVE: We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity...
May 31, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28574808/fetal-cardiac-us-techniques-and-normal-anatomy-correlated-with-adult-ct-and-mr-imaging
#13
Neel Patel, Evan Narasimhan, Anne Kennedy
Congenital heart disease (CHD) is an important cause of childhood mortality. Despite the widespread use of ultrasonography (US) as a screening tool, the prenatal detection rate is suboptimal. Improvement of the initial screening examination, which is performed in low-risk populations and often interpreted by community radiologists, targets a point in the screening process that is likely to have the largest population effect. If the goal of community-based screenings is to detect cases that may be abnormal and refer those to specialized centers for complete assessment, it is logical to use a checklist to confirm normal anatomy...
July 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28571229/role-of-echocardiography-in-prenatal-screening-of-congenital-heart-diseases-and-its-correlation-with-postnatal-outcome
#14
Shivani Sharma, Navkiran Kaur, Khushpreet Kaur, Naveen Chandrashekhar Pawar
INTRODUCTION: Congenital Heart Defects (CHDs) are one of the most common forms of congenital anomalies. Fetal echocardiography performed during second trimester aims at early diagnosis of congenital heart disease which is instrumental in proper planning of delivery, perinatal care and counselling of parents. AIM: To evaluate the role of fetal echocardiography in prenatal screening of CHDs and to study the role of associated extracardiac anomalies. MATERIALS AND METHODS: This was a hospital based prospective and correlative type of study, done over a period of one year...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28566819/neonates-with-critical-congenital-heart-defects-impact-of-fetal-diagnosis-on-immediate-and-short-term-outcomes
#15
Sylvia Michael Colaco, Tanuja Karande, Prashant Raviprakash Bobhate, Rashmi Jiyani, Suresh G Rao, Snehal Kulkarni
BACKGROUND: Fetal echocardiography is being increasingly used for prenatal diagnosis of congenital cardiac malformations, but its impact on the neonatal outcomes in low- and middle-income countries is still unknown. AIMS: The objective of this study is to determine the impact of fetal echocardiography on immediate postnatal and short-term outcome in a tertiary pediatric cardiac center. STUDY DESIGN: This is a prospective study. MATERIALS AND METHODS: One hundred consecutive patients with critical congenital heart defects (CHD) requiring active medical or surgical interventions in the 1(st) month of life were included in the study...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28552080/congenital-pseudoaneurysm-of-the-mitral-aortic-intervalvular-fibrosa-a-case-report
#16
Jamie K Harrington, Julie Glickstein, Amee Shah
The mitral-aortic intervalvular fibrosa is an area of fibrous continuity between the mitral and aortic valves. We present the first case of a congenital pseudoaneurysm in this region, detected prenatally as an isolated cardiac defect, which was followed-up conservatively postnatally. The diagnosis was confirmed by echocardiogram demonstrating blood flow into the pouch during systole and into the left ventricular outflow tract during diastole. The infant has been followed-up with serial echocardiograms demonstrating stable size and appearance of the lesion, without signs of obstruction, making close continued observation a reasonable approach...
May 29, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28507627/prenatally-diagnosis-and-outcome-of-fetuses-with-cardiac-rhabdomyoma-single-centre-experience
#17
Ramush Bejiqi, Ragip Retkoceri, Hana Bejiqi
BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size...
April 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28463844/early-delivery-of-sacrococcygeal-teratoma-with-intraspinal-extension
#18
Erin E Perrone, Marcus D Jarboe, Cormac O Maher, Deborah R Berman, Maria Ladino-Torres, Jeannie Kreutzman, Marjorie C Treadwell, George B Mychaliska
Sacrococcygeal teratoma (SCT) with intraspinal extension is rare. There is a risk of paraplegia associated with prolonged spinal cord compression. We present the case of an infant with a prenatal diagnosis of an SCT with a large intraspinal component that was causing compression of the lower spinal cord. Ultrasound at 33 weeks showed bilateral lower extremity and foot movement without hydrops or cardiac failure. Multidisciplinary decision was made to administer betamethasone and proceed with Cesarean delivery at 34 weeks...
May 3, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28438064/utility-of-fetal-cardiac-magnetic-resonance-imaging-to-assess-fetuses-with-right-aortic-arch-and-right-ductus-arteriosus
#19
Su-Zhen Dong, Ming Zhu
OBJECTIVE: To evaluate the utility of fetal cardiac magnetic resonance imaging (MRI) to diagnose right aortic arch (RAA) with right ductus arteriosus. METHODS: This retrospective study included six fetuses with right aortic arch and right ductus arteriosus. The six fetal cases were examined using a 1.5-T magnetic resonance unit. The steady-state free precession (SSFP) and single-shot turbo spin echo (SSTSE) sequences were used to evaluate the fetal heart and airway...
May 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28436133/population-trends-in-prenatal-detection-of-transposition-of-great-arteries-impact-of-obstetrical-screening-ultrasound-guidelines
#20
Prasad Ravi, Lindsay Mills, Deborah Fruitman, Winnie Savard, Timothy Colen, Nee Khoo, Jesus Serrano-Lomelin, Lisa K Hornberger
BACKGROUND: D-transposition of the great arteries (D-TGA) is one of the most common critical neonatal heart defects. Although there are clinical advantages to a prenatal diagnosis, D-TGA has had low prenatal detection internationally. Recent obstetrical ultrasound guidelines incorporating screening of cardiac outflows may improve prenatal detection of D-TGA. We sought to evaluate trends in the prenatal detection of D-TGA with/without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of enhanced ultrasound guidelines in 2009-2010 and 2013 and factors impacting detection...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
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