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prenatal cardiac diagnosis

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https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#1
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...
November 3, 2017: Pediatrics
https://www.readbyqxmd.com/read/29100908/quality-of-life-in-children-participating-in-a-non-selective-inr-self-monitoring-vka-education-programme
#2
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
#3
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
#4
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: J Vis Surg
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28904928/prenatal-sonographic-diagnosis-of-hypoplastic-left-heart-syndrome
#10
Raghu Teja Sadineni, B Santh Kumar, N B Chander, Durga Mahita Boppana
Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28868251/maternal-and-fetal-tuberous-sclerosis-do-we-know-enough-as-an-obstetrician
#11
Nalini Sharma, Shriram Sharma, Jion Lalnunnem Thiek, Santa Singh Ahanthem, Arnab Kalita, Donboklang Lynser
BACKGROUND: Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome. CASE PRESENTATION: In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks...
April 2017: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/28859338/human-brain-abnormalities-associated-with-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#12
Jessica S Jarmasz, Duaa A Basalah, Albert E Chudley, Marc R Del Bigio
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28858090/prenatal-ultrasonic-diagnosis-of-absent-pulmonary-valve-syndrome-a-case-report
#13
Wen-Jun Zhang, Zhong-Lei Zhang, Jun-Jie Chang, Xiao-Yu Song
RATIONALE: Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS: Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28828053/ultrasound-prenatal-diagnosis-and-emergency-interventional-radiologic-therapy-of-galen-aneurysmal-malformation-in-a-newborn
#14
Roxana Elena Bohiltea, Natalia Turcan, Cristian Mihalea, Bogdan Dorobat, Eliza Elena Cinteza, Adriana Dan, Magdalena Mihai, Adela Dimitriade, Cristian Boros, Mircea Dumitru, Ionut Gobej, Octavian Munteanu, Monica Mihaela Cirstoiu
Located under the cerebral hemispheres and draining the anterior and central regions of the brain into the sinus of the posterior cerebral fossa, the vein of Galen aneurysmal malformation is considered to be a rare cause of hydrocephaly. The presence of this condition in the neonatal period typically includes intractable heart failure and a poor prognosis. We report a case of aneurysm of the vein of Galen diagnosed prenatally at 28 weeks of gestation, with the delivery at term by caesarean section of a female infant...
December 2016: Mædica
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#15
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28811945/corrigendum-to-prenatal-diagnosis-of-cardiac-diverticulum-with-pericardial-effusion-in-the-first-trimester-of-pregnancy-with-resolution-after-early-pericardiocentesis
#16
Raquel Garcia Rodriguez, Azahara Rodriguez Guedes, Raquel Garcia Delgado, Lourdes Roldan Gutierrez, Margarita Medina Castellano, Jose Angel Garcia Hernandez
[This corrects the article DOI: 10.1155/2015/154690.].
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#17
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28808838/comparison-of-coronary-sinus-diameter-z-scores-in-normal-fetuses-and-fetuses-with-persistent-left-superior-vena-cava-plsvc
#18
Mingming Ma, Yan Tan, Ran Chen, Yankai Mao, Bei Wang, Bowen Zhao
To establish Z-score reference ranges for coronary sinus (CS) diameter in normal fetuses and explore the diagnostic value of CS Z-score in fetuses with persistent left superior vena cava (PLSVC). Study of 235 normal fetuses and 30 fetuses with PLSVC was involved. Noncardiac biometrical parameters included biparietal diameter (BPD), femoral length (FL), heart area (HA), gestation age (GA). The coronary sinus systolic and diastolic diameter (CSDs and CSDd ) were measured at the end of systole and diastole. CSDs and CSDd Z-score models were constructed by using linear regression analysis with Non-cardiac biometrical parameters as independent variables...
August 14, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#19
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28800669/fetal-cardiac-myxomas
#20
Shi-Min Yuan
Fetal cardiac myxomas are very rare. To date there has been no representative description of fetal cardiac myxomas. The aim of this study is to highlight the clinical features, possible outcomes and the disparities from the adult cardiac myxomas and other fetal cardiac tumors.A comprehensive literature review yielded 27 reports including 32 cases of fetal cardiac myxomas.Apart from the same pedunculated and solitary nature and echogenic appearance, fetal cardiac myxomas differ from those in adults in many aspects, including tumor location, clinical manifestation and malignant potential...
August 2017: Zeitschrift Für Geburtshilfe und Neonatologie
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