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prenatal cardiac diagnosis

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https://www.readbyqxmd.com/read/28926132/prenatal-diagnosis-of-total-and-partial-anomalous-pulmonary-venous-connection-multicentre-cohort-study-and-meta-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28741709/prenatal-diagnosis-of-dural-sinus-malformation-in-a-fetus-presenting-with-general-oedema
#13
Michal Lipa, Przemyslaw Kosinski, Ritsuko K Pooh, Miroslaw Wielgos
Dural sinus malformation (DSM) is an extremely rare, congenital dilatation of the dural sinus pouch. DSM cases associated with arteriovenous shunt (AV shunt) usually have a poor pregnancy outcome due to an excessive hemodynamic load and progressive cardiac failure.
July 25, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28739807/organisation-of-care-for-pregnancy-in-patients-with-congenital-heart-disease
#14
REVIEW
Jolien W Roos-Hesselink, Werner Budts, Fiona Walker, Julie F A De Backer, Lorna Swan, William Stones, Peter Kranke, Karen Sliwa-Hahnle, Mark R Johnson
Improvements in surgery have resulted in more women with repaired congenital heart disease (CHD) surviving to adulthood. Women with CHD, who wish to embark on pregnancy require prepregnancy counselling. This consultation should cover several issues such as the long-term prognosis of the mother, fertility and miscarriage rates, recurrence risk of CHD in the baby, drug therapy during pregnancy, estimated maternal risk and outcome, expected fetal outcomes and plans for pregnancy. Prenatal genetic testing is available for those patients with an identified genetic defect using pregestational diagnosis or prenatal diagnosis chorionic villus sampling or amniocentesis...
July 24, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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