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https://www.readbyqxmd.com/read/28043830/fetal-primary-cardiac-tumors-during-perinatal-period
#1
REVIEW
Shi-Min Yuan
Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas...
October 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28043739/canadian-cardiovascular-society-canadian-pediatric-cardiology-association-position-statement-on-pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#2
Kenny K Wong, Anne Fournier, Deborah S Fruitman, Lisa Graves, Derek G Human, Michael Narvey, Jennifer L Russell
Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity...
October 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28029179/prenatal-diagnosis-of-congenital-heart-diseases-by-fetal-echocardiography-in-second-trimester-a-chinese-multicenter-study
#3
Chen Chu, Yingliu Yan, Yunyun Ren, Xiaotian Li, Yonghao Gui
INTRODUCTION: The objective of our study was to evaluate the performance of detailed fetal echocardiography by skilled obstetric physician sonologists in the diagnosis of congenital heart disease (CHD) in a Chinese population. MATERIAL AND METHODS: This investigation included a multicenter prospective cohort of 10,259 pregnant women attending ten regional tertiary hospitals in China. The inclusion criteria were singleton pregnancy and gestational age 18 ~ ≤28 weeks...
December 28, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28002851/prenatal-ultrasonographic-diagnosis-of-cataract-in-utero-manifestations-of-cryptic-disease
#4
Eran Ashwal, Asaf Achiron, Yinon Gilboa, Michal Berkenstadt, Mordecai Rosner, Reuven Achiron
Purpose To report and review our experience with antenatal evaluation for fetuses diagnosed with congenital cataract. Materials and Methods We retrospectively identified pregnancies diagnosed with fetal cataract during antenatal ultrasound. Evaluation of fetal eyes included intraocular anatomy and biometry. Data on fetal malformations, serology and fetal karyotype were collected. Results 8 cases, identified over the course of 10 years, were reviewed. Week 15 was the mean time for diagnosis (range 11 - 34)...
December 21, 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27981284/complete-atrioventricular-septal-defect-in-the-era-of-prenatal-diagnosis
#5
REVIEW
Daniel Mureşan, Claudiu Mărginean, Gabriela Zaharie, Florin Stamatian, Ioana Cristina Rotar
Complete atrioventricular septal defect (CAVSD) is a fetal cardiac malformation (5% of all cardiac malformations) that can be detected prenatally with a reserved prognosis. The diagnosis can be suspected early at the end of the first trimester using the transabdominal or transvaginal ultrasound approach. Generally, the diagnostic can be established during the mid-trimester scan at 19-24 weeks of gestation. The percentage of antenatal diagnostic of CAVSD is between 57-92%. This review aims to analyze the anatomical principles and the ultrasound techniques that can improve the prenatal diagnosis of CAVSD...
December 5, 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27928837/prenatal-diagnosis-of-idiopathic-infantile-arterial-calcification-without-fetal-hydrops
#6
Yan Yi, Tong Tong, Tao Liu, Qi Lin, Yi Xiong, Jinfeng Xu
Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disease that is characterized by extensive calcification of the internal elastic lamina and intimal proliferation of large- and medium-sized arteries, including the aortic, coronary, pulmonary, and iliac arteries. Most reported cases of IIAC were diagnosed in the neonatal periods. Prenatal diagnosis of this condition is extremely rare and is usually made in the third trimester when fetuses had nonimmune hydrops together with aortic and pulmonary calcification...
December 8, 2016: Echocardiography
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#7
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27874196/prenatal-diagnosis-of-upper-extremity-malformations-with-ultrasonography-diagnostic-features-and-perinatal-outcome
#8
Mehmet Serdar Kutuk, Ozguc Altun, Sadan Tutus, Muhammet Ensar Dogan, Mahmut Tuncay Ozgun, Munis Dundar
OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected...
November 22, 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27828868/prenatal-diagnosis-and-genetic-discoveries-of-an-intracranial-mixed-neuronal-glial-tumor-a-case-report-and-literature-review
#9
Lijuan Sun, Qingqing Wu, Yan Pei, Jinghua Li, Jintang Ye, Wenxue Zhi, Yan Liu, Puqing Zhang
BACKGROUND: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. CASE REPORT: We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27818814/fetal-right-ventricular-diverticulum-detected-by-prenatal-ultrasound-screening
#10
Daisuke Katsura, Kaori Hayashi, Shunichiro Tsuji, Tetsuo Ono, Akiko Ishiko, Kentaro Takahashi, Takashi Murakami
Prenatal ultrasound screening has allowed for the detection of in utero cardiac abnormalities. Specifically, distinction is possible between ventricular diverticula and aneurysms, which is important because each condition has a different clinical outcome. We report the case of a 35-year-old, gravida 1, para 1 woman, with no significant past medical history, who underwent routine prenatal ultrasound screening at 32 weeks' gestation. A four-chamber ultrasound of the fetal heart combined with M-mode echocardiography showed abnormal dilatation of the right ventricular chamber measuring 2...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27812765/-esped-survey-tsc-disease-in-children-and%C3%A2-adolescents-preliminary-results-from-a%C3%A2-german%C3%A2-epidemiological-survey
#11
Lilian Mann, Daniel Ebrahimi-Fakhari, Beate Heinrich, Marina Flotats-Bastardas, Ludwig Gortner, Alexander von Gontard, Justine Niemcyzk, Martin Poryo, Sascha Meyer
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3...
November 3, 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27718271/neuropsychiatric-aspects-of-22q11-2-deletion-syndrome-considerations-in-the-prenatal-setting
#12
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
https://www.readbyqxmd.com/read/27684831/length-to-width-ratio-of-the-ductus-venosus-in-simple-screening-for-fetal-congenital-heart-diseases-in-the-second-trimester
#13
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)
https://www.readbyqxmd.com/read/27651614/evaluation-of-referral-pattern-for-fetal-echocardiography-at-a-tertiary-care-center-in-northern-india-and-its-implications
#14
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
https://www.readbyqxmd.com/read/27647175/ep05-08-prenatal-diagnosis-of-a-fetal-giant-cardiac-rhabdomyoma
#15
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
https://www.readbyqxmd.com/read/27634052/a-systematic-review-of-prenatal-screening-for-congenital-heart-disease-by-fetal-electrocardiography
#16
REVIEW
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
https://www.readbyqxmd.com/read/27605484/utility-of-genetic-evaluation-in-infants-with-congenital-heart-defects-admitted-to-the-cardiac-intensive-care-unit
#17
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
https://www.readbyqxmd.com/read/27572669/the-changing-epidemiology-of-ebstein-s-anomaly-and-its-relationship-with-maternal-mental-health-conditions-a-european-registry-based-study
#18
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
https://www.readbyqxmd.com/read/27568880/kabuki-syndrome-as-a-cause-of-non-immune-fetal-hydrops-ascites
#19
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
https://www.readbyqxmd.com/read/27551581/acute-myocardial-infarction-in-the-first-trimester-of-pregnancy-in-a-great-grand-multiparous-woman-with-poorly-controlled-chronic-hypertension
#20
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
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