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fetal malformation

Hu-Lin Christina Wang, Jia-Hao Zhang, Cheng-Hung How
BACKGROUND: Pulmonary arteriovenous malformations are rare vascular abnormalities that permit direct communication between the pulmonary artery and vein. During pregnancy, pulmonary arteriovenous malformation carries an increased risk of enlargement and rupture, which could lead to life-threatening hemothorax. This is the first case reporting successful thoracoscopic surgery for a pregnant woman with pulmonary arteriovenous malformation rupture-related hemothorax. CASE PRESENTATION: We present a case of a 32-year-old pregnant Asian woman (31 weeks' gestation) whose pulmonary arteriovenous malformation ruptured, leading to right-sided spontaneous tension hemothorax...
March 19, 2018: Journal of Medical Case Reports
Jae W Song, Gerlinde M Gruber, Janina M Patsch, Rainer Seidl, Daniela Prayer, Gregor Kasprian
Prenatal detection of abnormal white matter tracts might serve as a structural marker for altered neurodevelopment. As a result of many technical and patient-related challenges, the accuracy of prenatal tractography remains unknown. We hypothesized that characteristics of prenatal tractography of the corpus callosum and corticospinal tracts derived from fetal diffusion tensor imaging (DTI) data are accurate and predictive of the integrity of these tracts postnatally. We compared callosal and corticospinal tracts of 12 subjects with paired prenatal (age: 23-35 gestational weeks) and postnatal (age: 1 day to 2 years) DTI examinations (b values of 0 s/mm2 and 700 s/mm2 , 16 gradient encoding directions) using deterministic tractography...
April 2018: Pediatric Radiology
George P Daston, Manon Beekhuijzen
We evaluated the incidence of omphalocele, a malformation that occurs sporadically in many studies. We assembled data on external malformations using all treatment groups from every study published in three major journals over the past 35 years using New Zealand White rabbits. Fifty-eight papers were included: 4905 litters and 36,977 fetuses. Omphalocele was reported in 43% and was among the most common defects, occurring at a rate of 1.10% (litter) and 0.16% (fetus). The defect did not appear to be treatment-related, although it may have been in two studies, based on rate and dose-responsiveness...
March 14, 2018: Reproductive Toxicology
Barbara Mostacci, Francesca Bisulli, Elisabetta Poluzzi, Guido Cocchi, Carlo Piccinni, Alessandra Curti, Giuliana Simonazzi, Gianni Astolfi, Nicola Rizzo, Corrado Zenesini, Roberto D'Alessandro, Paolo Tinuper
OBJECTIVES: To assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011). METHODS: We identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009-2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto- CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Erol Arslan, Selim Büyükkurt, Mete Sucu, Mehmet Özsürmeli, Selahattin Mısırlıoğlu, S Cansun Demir, I Cüneyt Evrüke
OBJECTIVE: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomical screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with a careful examination. MATERIAL AND METHODS: This was a descriptive study retrospective data that was obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department...
March 16, 2018: Journal of the Turkish German Gynecological Association
Plansky Hoang, Jason Wang, Bruce R Conklin, Kevin E Healy, Zhen Ma
The creation of human induced pluripotent stem cells (hiPSCs) has provided an unprecedented opportunity to study tissue morphogenesis and organ development through 'organogenesis-in-a-dish'. Current approaches to cardiac organoid engineering rely on either direct cardiac differentiation from embryoid bodies (EBs) or generation of aligned cardiac tissues from predifferentiated cardiomyocytes from monolayer hiPSCs. To experimentally model early cardiac organogenesis in vitro, our protocol combines biomaterials-based cell patterning with stem cell organoid engineering...
April 2018: Nature Protocols
Ramona Weber, Rainer Hospes, Axel Wehrend
The aim of this study was to summarize the current status of the possible causes, clinical symptoms and pathogenesis of abortion in the mare and to evaluate the frequency of varying causes of abortion in German thoroughbred breeding. An analysis of the literature using electronic libraries, journals and textbooks was performed. In addition, the results of examinations of 123 abortions of thoroughbred breeding in central Germany were evaluated. In the literature, bacterial infections are the most frequently described cause of abortion...
February 2018: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
K J Heaphy-Henault, C V Guimaraes, A R Mehollin-Ray, C I Cassady, W Zhang, N K Desai, M J Paldino
BACKGROUND AND PURPOSE: Congenital aqueductal stenosis is a common cause of prenatal ventriculomegaly. An accurate diagnosis provides prognostic information and may guide obstetric management. The purpose of this study was to identify specific anatomic findings on prenatal MR imaging that can be used as predictors of congenital aqueductal stenosis. MATERIALS AND METHODS: Prenatal and postnatal MRIs of fetuses referred to our institution for ventriculomegaly between June 2008 and August 2015 were reviewed...
March 8, 2018: AJNR. American Journal of Neuroradiology
Quaker E Harmon, Olga Basso, Clarice R Weinberg, Allen J Wilcox
Preterm delivery is one of the strongest predictors of neonatal mortality. A given exposure may increase neonatal mortality directly, or indirectly by increasing the risk of preterm birth. Efforts to assess these direct and indirect effects are complicated by the fact that neonatal mortality arises from two distinct denominators (i.e. two risk sets). One risk set comprises fetuses, susceptible to intrauterine pathologies (such as malformations or infection), which can result in neonatal death. The other risk set comprises live births, who (unlike fetuses) are susceptible to problems of immaturity and complications of delivery...
March 7, 2018: European Journal of Epidemiology
Baptiste Dungu, Baratang A Lubisi, Tetsuro Ikegami
Rift Valley fever (RVF) is a zoonotic mosquito-borne bunyaviral disease associated with high abortion rates, neonatal deaths, and fetal malformations in ruminants, and mild to severe disease in humans. Outbreaks of RVF cause huge economic losses and public health impacts in endemic countries in Africa and the Arabian Peninsula. A proper vaccination strategy is important for preventing or minimizing outbreaks. Vaccination against RVF is not practiced in many countries, however, due to absence or irregular occurrences of outbreaks, despite serological evidence of RVF viral activity...
March 4, 2018: Current Opinion in Virology
Xiao Bing Tang, Huan Li, Jin Zhang, Wei Lin Wang, Zheng Wei Yuan, Yu Zuo Bai
Purpose: This study was performed to investigate the expression pattern of Wnt inhibitory factor 1 (Wif1) and β-catenin during anorectal development in normal and anorectal malformation (ARM) embryos and the possible role of Wif1 and β-catenin in the pathogenesis of ARM. Methods: ARM was induced with ethylenethiourea on the 10th gestational day in rat embryos. Cesarean deliveries were performed to harvest the embryos. The expression pattern of Wif1 and β-catenin protein and mRNA was evaluated in normal rat embryos ( n  = 288) and ARM rat embryos ( n  = 306) from GD13 to GD16 using immunohistochemical staining, Western blot, and real time RT-PCR...
2018: PeerJ
Ligia Brzezińska-Wcisło, Martyna Zbiciak-Nylec, Dominika Wcisło-Dziadecka, Natalia Salwowska
Treatment during pregnancy is problematic. The Food and Drug Administration established drug categories to help in the treatment process. First-generation antihistamines are considered safe but they have sedative properties. Second-generation antihistamines cause less adverse reactions but besides cetirizine and loratadine they belong to category C. All retinoids should be avoided during pregnancy due to the risk of fetal malformations. Antimalarial drugs should be considered based on the clinical data. Sulfones can be considered as safe for use during pregnancy only with proper monitoring...
October 2017: Postȩpy Dermatologii i Alergologii
Clara Elisa Frare de Avelar Teixeira, Angélica de Fátima de Assunção Braga, Franklin Sarmento da Silva Braga, Vanessa Henriques Carvalho, Rafael Miranda da Costa, Giselle Ioná Teixeira Brighenti
INTRODUCTION: Klippel-Trenaunay syndrome is a rare congenital vascular disease characterized by cutaneous hemangiomas, varicosities, and limb asymmetry, which may evolve with coagulation disorders and hemorrhage as more frequent complications in pregnant patients. Pregnancy is not advised in women with this syndrome due to increased obstetric risk. CASE REPORT: Female patient, 29 years old, 99kg, 167cm, BMI 35.4kg.m-2 , physical status ASA III, with 27 weeks of gestational age and diagnosis of Klippel-Trenaunay syndrome...
March 2, 2018: Revista Brasileira de Anestesiologia
Xue Sun, Wenjia Lei, Yu Wang, Faiza Amber Siddiqui, Ying Zhang
Partial anomalous pulmonary venous connection (PAPVC) is a rare malformation. We describe a case of PAPVC, in which the left pulmonary veins coursed to the left innominate vein through a vertical vein and finally drained into the right superior vena cava; the right pulmonary veins were connected to the left atrium. Tracing the origin and destination of abnormal vessels presented at the three-vessel and trachea view is useful for the diagnosis. Four-dimensional echocardiography with high-definition flow imaging and spatiotemporal image correlation facilitates the identification of the drainage of fetal pulmonary veins, which should be considered as a complementary modality in obstetric ultrasonic examination when cardiac abnormalities are suspected...
March 5, 2018: Echocardiography
Daniel Bamborschke, Matthias Pergande, Kerstin Becker, Friederike Körber, Jörg Dötsch, Anne Vierzig, Lutz T Weber, Sebahattin Cirak
INTRODUCTION: Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1. CASE REPORT: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons...
February 28, 2018: Brain & Development
Arkadiusz Krzyżanowski, Dariusz Swatowski, Tomasz Gęca, Maciej Kwiatek, Aleksandra Stupak, Sławomir Woźniak, Anna Kwaśniewska
BACKGROUND: Persistent right umbilical vein (PRUV) is usually an isolated finding but it may be accompanied by other fetal malformations. AIMS: We aimed to determine the incidence of prenatally diagnosed PRUV in a referral population, assess the neonatal outcome and discuss the findings together with those from previous publications. MATERIALS AND METHODS: A total of 2360 women with low-risk singleton pregnancies were examined in the second and third trimesters...
March 2, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos
BACKGROUND: The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. METHODS: A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context...
March 1, 2018: Journal of Medical Genetics
Yair J Blumenfeld, Michael A Belfort
PURPOSE OF REVIEW: To examine updates in fetal spina bifida surgical repair, as well as promising results emerging from translational medicine. RECENT FINDINGS: Although the Management of Myelomeningocele Study sponsored by the National Institutes of Health helped establish the neonatal benefits of prenatal spina bifida repair via uterine hysterotomy, also known as 'open' fetal surgery, fetoscopic approaches may yield better maternal and obstetric outcomes. SUMMARY: Spina bifida is a severe congenital malformation associated with significant neonatal and childhood morbidity and mortality...
April 2018: Current Opinion in Obstetrics & Gynecology
Usha D Nagaraj, Maria A Calvo-Garcia, Beth M Kline-Fath
OBJECTIVE: Screening the cavum septi pellucidi (CSP), more commonly referred to as the "cavum septum pellucidum," is a required component of the fetal anatomic survey during second-trimester ultrasound (US). The inability to identify the normal appearance of this structure warrants further evaluation because septal insufficiency is associated with multiple brain malformations. In this article, we discuss embryology, normal anatomy, and prenatal evaluation of the CSP as well as the differential diagnosis of associated abnormalities...
February 28, 2018: AJR. American Journal of Roentgenology
Charlotte Rosenkrantz Bodin, Mikkel Mylius Rasmussen, Ann Tabor, Lena Westbom, Eleonor Tiblad, Charlotte Kvist Ekelund, Camilla Bernt Wulff, Ida Vogel, Olav Bjørn Petersen
Objectives: The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods: Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases- (ICD-) 10 codes for pre- or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register...
2018: BioMed Research International
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