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Fetal cardiac defects

R I Stryuk, C A Burns, M P Filippov, Ya V Brytkova, I V Borisov, E L Barkova, T A Gomova, E A Kozina, O A Nagirnyak
AIM: the Aim of the BEREG Registry was to analyze the prevalence and structure of cardiovascular diseases, associated comorbid conditions and assess their effects on pregnancy and perinatal outcomes in real clinical practice. MATERIALS AND METHODS: In Tula city regional perinatal center the observation study named "Assessment of the clinical condition of the pregnant women with cardiovascular disease during gestation, at child delivery, at the early postpartum period and at twelve months after childbirth and assesment of perinatal outcomes, condition of the fetus and the newborn and the quality of treatment of these patients groups...
February 14, 2018: Terapevticheskiĭ Arkhiv
Van K Ninh, Elia C El Hajj, Alan J Mouton, Jason D Gardner
Fetal alcohol syndrome (FAS) is the most severe condition of fetal alcohol spectrum disorders (FASD) and is associated with congenital heart defects. However, more subtle defects such as ventricular wall thinning and cardiac compliance may be overlooked in FASD. Our studies focus on the role of cardiac fibroblasts in the neonatal heart, and how they are affected by prenatal alcohol exposure (PAE). We hypothesize that PAE affects fibroblast function contributing to dysregulated collagen synthesis, which leads to cardiac dysfunction...
January 25, 2019: Cardiovascular Toxicology
Madalena Braga, Maria Lúcia Moleiro, Luís Guedes-Martins
The ductus venosus is a vascular shunt situated within the fetal liver parenchyma connecting the umbilical vein to the inferior vena cava. This vessel acts as a bypass of the liver microcirculation and plays a critical role in the fetal circulation. The ductus venosus allows oxygenated and nutrient-rich venous blood to flow from the placenta to the myocardium and brain. Increased impedance to flow in the fetal ductus venosus is associated with fetal aneuploidies, cardiac defects and other adverse pregnancy outcomes...
January 15, 2019: Current Cardiology Reviews
Mana Taweevisit, Paul Thorner
INTRODUCTION: Congenital heart defects (CHDs) carry significant morbidity and mortality in pediatric patients. This study determined the spectrum of CHDs based on fetal and pediatric autopsies. METHODS: Autopsy reports over a 15-year period were reviewed. Postmortem findings were correlated with echocardiography records. RESULTS: From 608 autopsies, 119 cases with CHDs were identified (11% of fetal, 53% of neonatal, 18% of infant, and 4.5% of childhood autopsies)...
January 11, 2019: Fetal and Pediatric Pathology
Yan Kai Mao, Bo Wen Zhao, Li Zhou, Bei Wang, Ran Chen, Shan Shan Wang
To determine Z-score equations and reference ranges for Doppler flow velocity indices of cardiac outflow tracts in normal fetuses. A prospective cross-sectional echocardiographic study was performed in 506 normal singleton fetuses from 18 to 40 weeks. Twelve pulsed-wave Doppler (PWD) measurements were derived from fetal echocardiography. The regression analysis of the mean and the standard deviation (SD) for each parameter were performed against estimated fetal weight (EFW) and gestational age (GA), in order to construct Z-score models...
January 8, 2019: International Journal of Cardiovascular Imaging
Ingo Gottschalk, Brigitte Strizek, Christel Jehle, Rüdiger Stressig, Ulrike Herberg, Johannes Breuer, Konrad Brockmeier, Astrid Hellmund, Annegret Geipel, Ulrich Gembruch, Christoph Berg
PURPOSE:  To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). METHODS:  All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers. RESULTS:  50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4...
January 7, 2019: Ultraschall in der Medizin
Stamatios Petousis, Alexandros Sotiriadis, Chrysoula Margioula-Siarkou, Ioannis Tsakiridis, Panagiotis Christidis, Menelaos Kyriakakis, Apostolos Mamopoulos, Apostolos Athanasiadis, Themistoklis Dagklis
OBJECTIVE: To assess the performance of sonography in the detection of fetal nonchromosomal abnormalities using a standard anatomic examination protocol proposed by International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) at 11+0 -13+6 weeks. MATERIALS AND METHODS: A prospective observational study was conducted between June 2013-May 2017 in singleton pregnancies attending for a routine scan at 11+0 -13+6 weeks. All examinations were performed by maternal-fetal medicine specialists certified by the Fetal Medicine Foundation according to the anatomic examination protocol described in the ISUOG guidelines...
January 7, 2019: Journal of Maternal-fetal & Neonatal Medicine
Anish Engineer, Tana Saiyin, Xiangru Lu, Andrew S Kucey, Brad L Urquhart, Thomas A Drysdale, Kambiz Norozi, Qingping Feng
Background Tetrahydrobiopterin is a cofactor of endothelial NO synthase ( eNOS ), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan), an orally active synthetic form of tetrahydrobiopterin on eNOS uncoupling and congenital heart defects ( CHD s) induced by pregestational diabetes mellitus in mice. Methods and Results Adult female mice were induced to pregestational diabetes mellitus by streptozotocin and bred with normal male mice to produce offspring. Pregnant mice were treated with sapropterin or vehicle during gestation...
November 6, 2018: Journal of the American Heart Association
Sofía García Fernández, Javier Arenas Ramirez, Maria T Otero Chouza, Beatriz Rodriguez-Vijande Alonso, Ángel P Llaneza Coto
OBJECTIVE: Congenital heart defects are the most common major structural fetal abnormalities. Color flow mapping has played a dominant role in the detection of abnormalities during the first trimester, regardless of the International Society of Ultrasound in Obstetrics and Gynecology warning on the use of Doppler during early pregnancy. The aim of our study was to investigate the use of transvaginal two-dimensional sonography without Doppler for assessing the four-chamber view and the outflow tract view of fetuses at 11-13 weeks of gestation for cardiac screening of major congenital heart defects...
December 14, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Madhumita Basu, Vidu Garg
Congenital heart disease (CHD) is the most common type of birth defect and is both a significant pediatric and adult health problem, in light of a growing population of survivors. The etiology of CHD has been considered to be multifactorial with genetic and environmental factors playing important roles. The combination of advances in cardiac developmental biology, which have resulted in the elucidation of molecular pathways regulating normal cardiac morphogenesis, and genome sequencing technology have allowed the discovery of numerous genetic contributors of CHD ranging from chromosomal abnormalities to single gene variants...
December 1, 2018: Birth Defects Research
Elisa Llurba Olive, Emily Xiao, David R Natale, Steven A Fisher
Low oxygen concentration (hypoxia) is part of normal embryonic development, yet the situation is complex. Oxygen (O2 ) is a janus gas with low levels signaling through hypoxia-inducible transcription factor (HIF) that are required for development of fetal and placental vasculature and fetal red blood cells. This results in coupling of fetus and mother around midgestation as a functional feto-placental unit (FPU) for O2 transport, which is required for continued growth and development of the fetus. Defects in these processes may leave the developing fetus vulnerable to O2 deprivation or other stressors during this critical midgestational transition when common septal and conotruncal heart defects (CHDs) are likely to arise...
December 1, 2018: Birth defects research
J Hautala, M Gissler, A Ritvanen, A Tekay, O Pitkänen-Argillander, V Stefanovic, T Sarkola, E Helle, J Pihkala, T Pätilä, I P Mattila, E Jokinen, J Räsänen, T Ojala
OBJECTIVE: To evaluate whether a nationwide prenatal anomaly screening programme improves detection rates of univentricular heart (UVH) and transposition of great arteries (TGA), and whether maternal risk factors for severe fetal heart disease affect prenatal detection. DESIGN: Population-based cohort study. SETTING: Nationwide data from Finnish registries 2004-14. POPULATION: A total of 642 456 parturients and 3449 terminated pregnancies due to severe fetal anomaly...
December 21, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
Gin Chiu, Andi Zhao, Bo Zhang, Tianxiao Zhang
OBJECTIVE: Significance of intracardiac echogenic focus (ICEF) in the fetal heart remains controversial. We aimed to investigate whether the location of ICEF is associated with fetal cardiac structure defects in low-risk pregnant women. METHODS: A retrospective cohort study was conducted. Singleton pregnancies with normal values of triple fetal serum markers were included. 758 of 9782 fetuses with ICEF were reviewed for involvement of three ICEF locations (left, right, and bilateral ventricles) in cardiac structure defects...
December 18, 2018: Journal of Maternal-fetal & Neonatal Medicine
Christopher W Roy, Davide Marini, David F A Lloyd, Wadi Mawad, Shi-Joon Yoo, Eric M Schrauben, Edgar Jaeggi, Mike Seed, Christopher K Macgowan
BACKGROUND: Recent advances in cardiovascular magnetic resonance (CMR) imaging have facilitated CINE imaging of the fetal heart. In this work, a preliminary investigation of the utility of multislice CINE CMR for assessing fetal congenital heart disease is performed and compared with echocardiography. METHODS AND RESULTS: Multislice CINE CMR and echocardiography images were acquired in 25 pregnant women wherein the fetus had a suspected congenital heart defect based on routine obstetric ultrasound...
December 2018: Circulation. Cardiovascular Imaging
Yi-Ling Huang, Kang-Hong Hsu, Enkhzaya Chuluunbaatar, Tzu-Ming Wen, Yi-Ying Li, Ming-Ren Chen, Chung-I Chang, Tung-Yao Chang
OBJECTIVE: To present an accurate prenatal diagnosis of coarctation of the aorta with ventricular septal defect and to illustrate how early diagnosis in prenatal period with proper referral and counseling can optimize management. CASE REPORT: A case with coarctation of the aorta with ventricle septal defect was found to have an abnormal three vessel view at 12 weeks, and with close follow-ups, coarctation of the aorta with ventricle septal defect was diagnosed at 24 weeks...
December 2018: Taiwanese Journal of Obstetrics & Gynecology
E Blondiaux, G Autret, F Dhombres, M Gonzales, E Audureau, O Clément, J-M Jouannic, L Houyel
PURPOSE: The purpose of this study was to compare non-invasive high-spatial-resolution postmortem cardiac magnetic resonance imaging (MRI) and autopsy findings for evaluating the septal insertion of atrioventricular valves in fetuses. MATERIALS AND METHODS: Five fetal heart specimens including two normal hearts, one heart with complete atrioventricular septal defect (AVSD) and two hearts with linear insertion of atrioventricular valves (LIAVV; gestational age 17 to 34 weeks) were studied with cardiac MRI using a 4...
December 7, 2018: Diagnostic and Interventional Imaging
Maciej Słodki, Małgorzata Soroka, Giuseppe Rizzo, Maria Respondek-Liberska
INTRODUCTION: Prenatal atrioventricular septal defect (AVSD) on frequent occasions coexists with other cardiac or extracardiac abnormalities or malformation which may change the prognosis and the management with the fetus and the newborn. The aim of the research was to assess the prognosis and the outcome of prenatally diagnosed AVSD based on the classification which also includes coexisting extracardiac abnormalities and malformations as well as its influence on the prenatal consultation...
December 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Hui-Mei Yao, Lei Huang, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang
The prognosis of right heart enlargement varies according to different etiologies. The purpose of this study was to investigate the characteristics of echocardiogram, surgical treatment, chromosome and prognosis for fetal right heart enlargement.The foetal echocardiogram was performed on 3987 pregnant women, and then 88 fetuses with right heart enlargement were identified. The data about prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, karyotype analysis and autopsy after induced labor were analyzed in the 88 fetuses...
November 2018: Medicine (Baltimore)
Ahoura Nozari, Ehsan Aghaei-Moghadam, Aliakbar Zeinaloo, Afagh Alavi, Saghar Ghasemi Firouzabdi, Shohre Minaee, Marzieh Eskandari Hesari, Farkhondeh Behjati
Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. RASA1, a regulator of cardiovascular development, is involved in this pathway and its haploinsufficiency (due to heterozygous mutations) has been identified as the underlying etiology of the autosomal dominant capillary malformation/arteriovenous malformation (CM/AVM)...
April 2019: Cell Journal
Cristian D'Ovidio, Lidia Decembrino, Mauro Stronati, Aldo Carnevale, Rossano Lattanzio
BACKGROUND We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed. CASE REPORT The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). The investigations around her death revealed a cardiac congenital malformation, seen as a rare variant of a common arterial trunk, in which the aorta was fused with the right branch of the pulmonary artery...
November 28, 2018: American Journal of Case Reports
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