Read by QxMD icon Read

prenatal cardiac diagnosis

Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Wei-Hsiu Chiu, Shy-Ming Lee, Tao-Hsin Tung, Xiao-Mei Tang, Ren-Shyan Liu, Ran-Chou Chen
Antenatal diagnosis of congenital heart disease (CHD) is still low even though screening was first introduced over 25 years ago. The purpose of our study was to determine the efficacy of a second-trimester prenatal ultrasonographic method of screening for CHD.From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. The accuracy of each fetal measurement and Doppler ultrasonography were determined...
September 2016: Medicine (Baltimore)
Anupama Nair, S Radhakrishnan
OBJECTIVE: To determine the referral pattern for fetal echocardiography (FE) at our tertiary referral center for pediatric cardiac care in northern India. We also aimed to determine the incidence of CHD in each group and intend to highlight the need of identifying the various risk factors and appropriate timely referral of patients for detailed evaluation. METHODS: This is a prospective study including 201 consecutive patients referred for fetal echo to our center...
October 2016: Journal of Obstetrics and Gynaecology of India
J E Dickinson, S Lee, D Kothari, L D'Orsogna
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Kim M J Verdurmen, Noortje B Eijsvoogel, Carlijn Lempersz, Rik Vullings, Christian Schroer, Judith O E H van Laar, S Guid Oei
BACKGROUND: Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. OBJECTIVES: To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). SEARCH STRATEGY: A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords...
November 2016: International Journal of Gynaecology and Obstetrics
Rebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, Stacy Woyciechowski, Lisa D'Alessandro, Elaine H Zackai, Matthew A Deardorff, Elizabeth Goldmuntz
Congenital heart defects (CHDs) are heterogeneous and present with a spectrum of severity, with roughly 25% of patients requiring intervention before age 1. The etiology of disease is unknown in many individuals; however, there is a rapidly expanding understanding of genetic risk factors that may contribute to pathogenesis. Through this work, we sought to evaluate the diagnostic yield of a clinical genetics evaluation and associated genetic testing among infants with critical CHDs. Furthermore, we aimed to both determine the utility of microarray and establish a strong baseline that can be used in future studies of the impact of exome sequencing in this population...
September 8, 2016: American Journal of Medical Genetics. Part A
Breidge Boyle, Ester Garne, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Clara Cavero-Carbonell, Miriam Gatt, Nathalie Lelong, Catherine Lynch, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Anke Rissmann, David Tucker, Natalia Zymak-Zakutnia, Helen Dolk
OBJECTIVES: The aim of this study was to describe the epidemiology of Ebstein's anomaly in Europe and its association with maternal health and medication exposure during pregnancy. DESIGN: We carried out a descriptive epidemiological analysis of population-based data. SETTING: We included data from 15 European Surveillance of Congenital Anomalies Congenital Anomaly Registries in 12 European countries, with a population of 5.6 million births during 1982-2011...
August 30, 2016: Cardiology in the Young
Ashleigh Long, Elena S Sinkovskaya, Andrew C Edmondson, Elaine Zackai, Samantha A Schrier Vergano
Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the "Kabuki make-up" theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1/32,000 births, with 55-80% of patients showing nonsense or frameshift mutations in the KMT2D (MLL2) gene, which encodes a histone transferase located on chromosome 12q...
August 29, 2016: American Journal of Medical Genetics. Part A
Lakha Prasannan, Matthew J Blitz, Jill M Rabin
INTRODUCTION: Acute myocardial infarction (MI) in pregnancy is a rare event, usually occurring late in gestation, either in the third trimester or in the puerperium. It is associated with significant maternal and fetal morbidity and mortality. Although diagnosis and management of MI in pregnancy has been discussed in the literature, management of pregnancy following an early antepartum MI, which may have more consequences for the fetus, has not received as much attention. CASE: A 38-year-old great grand multiparous woman presented to the emergency department complaining of acute onset chest pain...
July 2016: American Journal of Perinatology Reports
Guyue Hu, Ying Zhang, Miao Fan, Meilian Wang, Faiza Amber Siddiqui, Yu Wang, Wei Sun, Feifei Sun, Dongyu Zhang, Wenjia Lei, Xue Sun
BACKGROUND: Prenatal diagnosis of cardiac valve anomalies challenged most screening sonographers. The purpose of the study was to evaluate the use of four-dimensional echocardiography with spatiotemporal image correlation (4DSTIC) in detecting normal and abnormal fetal cardiac valves. METHODS: Forty-three cases of confirmed cardiac valve anomalies identified by two-dimensional echocardiography (2DE) were retrospectively reviewed in this study. Additional 121 confirmed normal fetuses were included as controls...
August 22, 2016: Echocardiography
Annie Janvier, Barbara Farlow, Keith J Barrington
Trisomy 13 and 18 are life-limiting conditions for which a palliative approach is frequently recommended. The objective of this study was to examine parental goals/decisions, the length of life of their child and factors associated with survival. Parents of children who lived with trisomy 13 or 18 that were part of English-speaking social networks were invited to participate in a questionnaire study. Participants answered questions about their hopes/goals, decisions regarding neonatal interventions, and the duration of their children's lives...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
D Paladini, B Deloison, A Rossi, G E Chalouhi, C Gandolfo, P Sonigo, S Buratti, A E Millischer, G Tuo, Y Ville, A Pistorio, A Cama, L J Salomon
OBJECTIVE: Vein of Galen aneurysmal malformation (VGAM) is a rare anomaly in which an adequate perinatal management may warrant good neurological outcome. However, most fetal series are too scant to allow reliable statistical assessment of poor prognostic factors. Aim of this paper is to assess, in a two-center series of 49 cases, the prognostic value of several prenatal variables. The primary endpoint of the analysis is to identify possible prenatal indicators of poor outcome, in terms of mortality and cerebral disabilities...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
Sarah Crimmins, Sudhir Vashit, Lauren Doyle, Chris Harman, Ozhan Turan, Sifa Turan
A 27-week fetus evaluated for bradycardia and hydrops was found to have anti-SSA-negative 2° atrioventricular block and ventricular tachycardia. A presumptive diagnosis of fetal long QT syndrome was made. Transplacental pharmacotherapy with intravenous magnesium and lidocaine restored sinus rhythm. At 30 6/7 weeks, the infant was delivered due to premature labor. Despite postnatal treatment with mexiletine and propranolol, she developed torsades de pointes. Ultimately, a de novo KCNH2 G628S mutation was diagnosed...
August 5, 2016: Journal of Clinical Ultrasound: JCU
Hualin Yan, Kaiyu Zhou, Zhang Zhang, Chuan Wang, Nan Guo, Yifei Li, Yimin Hua
INTRODUCTION: Fetal endocardial fibroelastosis (EFE) is a kind of rare fetal cardiac malformation characterized by the diffuse thickening of the ventricular endocardium. The diagnosis of fetal EFE depends on the echocardiographic features which are still confused that how to make an appropriate pregnant decision due to the conflict between high prenatal mortality and acceptable prognosis once after birth. Here, we seriously built a 4-gradation recommendation system based on cardiovascular profile score (CVPS) to supply a prediction of clarified pregnant outcomes with EFE and provide a practical way to offer optimal medical consultation...
July 2016: Medicine (Baltimore)
H Filipová, M Procházka, R Vrtěl
UNLABELLED: Tuberous sclerosis is a disease with an autosomal dominant pattern of inheritance which is characterized by the development of benign tumours in many tissues and organs. Clinical signs are extremely variable, causing mutations in the gene TSC1 or TSC2. Complex formed by the products of the TSC genes regulates cell growth and proliferation by inhibition of mTORC1 signalling. Early diagnosis of TSC is very important to plan appropriate perinatal care. Using ultrasound and eventually MRI it is possible in the prenatal period to capture the following major features of tuberous sclerosis: cardiac rhabdomyo-ma, subependymal nodules, cortical tubers and renal angiomyolipomas...
April 2016: Ceská Gynekologie
Xu Li, Xue-Lei Li, Kefei Hu, Chuangao Yin
BACKGROUND: Here we report our preliminary experience of using fetal cardiovascular magnetic resonance (CMR) imaging, particularly with transverse views at the level of the aortic arch, in the diagnosis of aortic arch anomalies. MATERIALS AND METHODS: Between January 2013 and December 2015, routine prenatal obstetric ultrasound (US), echocardiography (Echo) and 1.5 T CMR were performed on approximately 600 pregnant women. CMR included balanced fast field echo and single-shot fast spin echo sequences...
July 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Esra Tuğ, Deniz Karacaaltıncaba, Meral Yirmibeş Karaoğuz, Hanife Saat, Aykut Özek
Mosaic trisomy 2 in second-trimester amniocentesis is a very rare aneuploidy. The outcome of the pregnancies is quite variable, spontaneous abortions are frequent. A 37 year old woman underwent amniocentesis at 18 weeks of gestation because of abnormal serum screening with single umbilical artery (SUA) and cardiac dextroposition in fetal ultrasound (USG), and the cytogenetic result was 47,XX,+2[12]/46,XX[73]. Repeated amniocentesis and simultaneously cordocentesis at 21 weeks of gestation were ended with the analyses of the same mosaic aneuploidy...
July 18, 2016: Journal of Maternal-fetal & Neonatal Medicine
Sarah K Dotters-Katz, Whitney M Humphrey, Kayli L Senz, Vanessa R Lee, Brian L Shaffer, Aaron B Caughey
Objective This study aims to evaluate the perinatal and neonatal outcomes associated with prenatal diagnosis of 45,X, both with and without fetal cardiac anomalies. Study Design A retrospective cohort of singleton pregnancies in California, 2005 to 2008, using vital statistics and International Classification of Diseases, Ninth Revision data, identifying prenatally diagnosed 45,X. Outcomes included preterm delivery, preeclampsia, intrauterine fetal demise (IUFD), cesarean section, small for gestational age (SGA), neonatal death, and infant death...
October 2016: American Journal of Perinatology
Siobhan Corcoran, Kaleigh Briggs, Hugh O' Connor, Sieglinde Mullers, Cathy Monteith, Jennifer Donnelly, Patrick Dicker, Orla Franklin, Fergal D Malone, Fionnuala M Breathnach
INTRODUCTION: Congenital heart disease (CHD) is the most common major structural fetal abnormality and the benefits of prenatal detection are well described. The objective of this study was to evaluate the precision of prenatal diagnosis at a single tertiary referral unit over two three year periods (2006, 2007, 2008 and 2010, 2011, 2012), before and after a prenatal screening protocol for CHD was developed to include extended cardiac views, mandatory recall for suboptimal views, and a multidisciplinary Fetal Cardiac clinic was established...
August 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Rinat Gabbay-Benziv, Bilge Cetinkaya Demir, Sarah Crimmins, Sertac Esin, Ozhan M Turan, Sifa Turan
OBJECTIVE: To evaluate fetal cardiac ventricular disproportion as a marker of cardiac anomalies. METHODS: A retrospective case series included data from all patients who had a fetus diagnosed subjectively with ventricular disproportion by routine obstetric ultrasonography between January 1, 2007 and December 31, 2013 at a single tertiary center in the USA. Fetal and neonatal echocardiography, and neonatal outcome data were retrieved. Outcomes were described for all fetuses with subjective ventricular disproportion...
October 2016: International Journal of Gynaecology and Obstetrics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"