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https://www.readbyqxmd.com/read/28328129/the-phenotypic-spectrum-of-congenital-zika-syndrome
#1
Miguel Del Campo, Ian M L Feitosa, Erlane M Ribeiro, Dafne D G Horovitz, André L S Pessoa, Giovanny V A França, Alfredo García-Alix, Maria J R Doriqui, Hector Y C Wanderley, Maria V T Sanseverino, João I C F Neri, João M Pina-Neto, Emerson S Santos, Islane Verçosa, Mirlene C S P Cernach, Paula F V Medeiros, Saile C Kerbage, André A Silva, Vanessa van der Linden, Celina M T Martelli, Marli T Cordeiro, Rafael Dhalia, Fernanda S L Vianna, Cesar G Victora, Denise P Cavalcanti, Lavinia Schuler-Faccini
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326958/persistent-left-superior-vena-cava
#2
Vrinda Nair, Kamran Yusuf, Weiming Yu, Hafez AlAwad, Kathy Paul, Essa Al Awad
Persistent left superior vena cava (PLSVC) is a common cardiac anomaly associated with congenital heart diseases. A diagnosis of PLSVC usually warrants a detailed fetal echocardiography. Lesser known associations are the extra cardiac anomalies notably the upper airway and the gastrointestinal tract anomalies. We highlight here the importance of detailed fetal assessment for extra cardiac anomalies in addition to fetal echocardiography in fetuses diagnosed with PLSVC. We hereby present a preterm infant who presented with a triad of PLSVC, laryngeal atresia, and esophageal atresia...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28324810/the-emotional-process-from-diagnosis-to-birth-following-a-prenatal-diagnosis-of-fetal-anomaly-a-qualitative-study-of-messages-in-online-discussion-boards
#3
Tommy Carlsson, Veronica Starke, Elisabet Mattsson
OBJECTIVE: to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. DESIGN: cross-sectional qualitative study of messages in public online discussion boards. SETTING: Swedish public discussion boards about reproductive subjects. SAMPLE: ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches...
March 2, 2017: Midwifery
https://www.readbyqxmd.com/read/28322033/prenatal-diagnosis-of-aberrant-right-subclavian-artery-in-an-unselected-population
#4
Mi Jin Song, Byoung Hee Han, Young-Hwa Kim, So Young Yoon, Yoo Mi Lee, Hye Su Jeon, Bo Kyung Park
Purpose: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other congenital anomalies. Methods: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine antenatal sonography at our institution between April 2014 and September 2015. The right subclavian artery was assessed using grayscale and color Doppler ultrasonography in the transverse 3-vessel and tracheal view, and confirmed in the coronal plane...
February 20, 2017: Ultrasonography
https://www.readbyqxmd.com/read/28320222/demographic-and-perinatal-outcome-data-of-fetuses-with-sua-pruv
#5
Lulu Sun, Yanlin Wang
AIM: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis. METHODS: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database...
March 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28315866/cerebrospinal-fluid-and-parenchymal-brain-development-and-growth-in-the-healthy-fetus
#6
Nickie N Andescavage, Adre DuPlessis, Robert McCarter, Gilbert Vezina, Richard Robertson, Catherine Limperopoulos
OBJECTIVE: The objective of this study was to apply quantitative magnetic resonance imaging to characterize absolute cerebrospinal fluid (CSF) development, as well as its relative development to fetal brain parenchyma in the healthy human fetus. DESIGN: We created three-dimensional high-resolution reconstructions of the developing brain for healthy fetuses between 18 and 40 weeks' gestation, segmented the parenchymal and CSF spaces, and calculated the volumes for the lateral, third, and fourth ventricles; extra-axial CSF space; and the cerebrum, cerebellum, and brainstem...
March 18, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#7
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#8
Tianjiao Chu, Patricia A Shaw, Suveyda Yeniterzi, Mary Dunkel, Aleksander Rajkovic, W Allen Hogge, Kimberly D Bunce, David G Peters
Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated...
2017: PloS One
https://www.readbyqxmd.com/read/28306539/three-dimensional-power-doppler-of-the-placenta-and-its-clinical-applications
#9
Kelly Yamasato, Ivica Zalud
The aim of this review is to discuss three dimensional (3D) power Doppler of the placenta and its clinical applications. There is a strong clinical need to develop noninvasive, simple and widely available methods of evaluating in vivo placental function to assess fetal wellbeing. While conventional ultrasound is a proven tool in the evaluation of fetal structural anomalies and health, its ability to assess placental function, especially prior to the onset of fetal compromise, is the subject of ongoing investigation...
March 17, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28304193/peptidomic-analysis-of-fetal-heart-tissue-for-identification-of-endogenous-peptides-involved-in-tetralogy-of-fallot
#10
Jingjing Zhang, Dong Liang, Qing Cheng, Li Cao, Yun Wu, Yan Wang, Shuping Han, Zhangbin Yu, Xianwei Cui, Tianhui Xu, Dingyuan Ma, Ping Hu, Zhengfeng Xu
Tetralogy of fallot (TOF) is one of the most prevalent types of congenital heart diseases. As a category of bioactive molecules, peptides have been proved to participate in various biological processes. However, the role of endogenous peptides in the pathogenesis of TOF has not been studied. In this study, we performed a comparative peptidomic profile in the fetal heart of TOF and the control group for the first time by liquid chromatography-tandem mass spectrometry. Our data demonstrated that a total of 201 peptides derived from 176 precursor proteins were differentially expressed in the heart tissues of TOF fetuses compared with normal controls, including 41 upregulated peptides and 160 downregulated peptides...
March 17, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28301892/evaluating-the-performance-of-ultrasound-screening-for-congenital-heart-disease-a-descriptive-cohort-study
#11
Rosemary J Froehlich, Lindsay Maggio, Phinnara Has, Erika F Werner, Dwight J Rouse
Objective The objective of this study was to evaluate the rate of abnormal fetal echocardiogram after normal detailed anatomy ultrasound when both are performed by maternal-fetal medicine specialists. Study Design Retrospective review of women who underwent detailed anatomy ultrasound and fetal echocardiography between 16 and 26 weeks' gestation at a single center. Women included had at least one indication for fetal echocardiography as recommended by the American Institute of Ultrasound in Medicine and normal cardiac anatomy on initial detailed anatomy ultrasound...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#12
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#13
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28299806/an-audit-of-second-trimester-fetal-anomaly-scans-based-on-a-novel-image-scoring-method-in-the-southwest-region-of-the-netherlands
#14
Nicolette T C Ursem, Ingrid A Peters, Mieke N Kraan-van der Est, Jacqueline C I Y Reijerink-Verheij, Maarten F C M Knapen, Titia E Cohen-Overbeek
OBJECTIVES: Since 2007 the second-trimester fetal anomaly scan is offered to all pregnant women as part of the national prenatal screening program in the Netherlands. Dutch population-based screening programs generally have a well-described system to achieve quality assurance. Because of the absence of a uniform system to monitor the actual performance of the fetal anomaly scan in 2012, we developed a standardized image-scoring method. The aim of this study was to evaluate the scanning performance of all sonographers in the southwestern region of the Netherlands using this image-scoring method...
March 16, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28296289/congenital-anatomical-variant-of-the-clavicle
#15
Joan Viciano, Vincenzo Urbani, Ruggero D'Anastasio
The aim of this study is to present a rare abnormality of the clavicle (Code: SGS01) that was discovered in an ossuary in the Church of San Gaetano (Sulmona, central Italy; XVII-XIX centuries CE). In the middle third, the clavicle had three areas with losses of substance in the form of oval-shaped foramina with maximum diameters of 1-2 cm that were located in the anterior and superior surfaces of the diaphysis. The margins of these foramina were well defined and rounded, and the surfaces of the canal walls were smooth...
March 15, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28295742/prognosis-of-isolated-congenital-diaphragmatic-hernia-using-lung-to-head-circumference-ratio-variability-across-centers-in-a-national-perinatal-network
#16
Marie-Victoire Senat, Hanane Bouchghoul, Julien Stirnemann, Pascal Vaast, Julia Boubnova, Laetitia Begue, Elizabeth Carricaburu, Agnes Sartor, Jacques Jani, Alexandra Benachi, Jean Bouyer
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly. The observed to expected lung area-to-head circumference ratio (o/e-LHR) has been shown to provide a useful prediction of subsequent survival in fetuses with CDH in reference centers with expertise and a large caseload. However, the accuracy of o/e-LHR measurements in unselected fetal medicine units or in centers with less expertise is not well known. OBJECTIVE: To evaluate o/e-LHR measurement in prognostic evaluation of postnatal survival when the measurement is performed in fetal medicine units with different levels of expertise...
March 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28295149/enlarged-posterior-fossa-on-prenatal-imaging-differential-diagnosis-associated-anomalies-and-post-natal-outcome
#17
Anja Wüest, Daniel Surbek, Roland Wiest, Christian Weisstanner, Harald Bonel, Maja Steinlin, Luigi Raio, Boris Tutschek
INTRODUCTION: The primary aim of this study was to ascertain the prevalence the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the post-natal outcome of children affected by posterior fossa anomalies. MATERIAL AND METHODS: All fetuses with enlarged posterior fossa detected by prenatal sonography at a referral center from 2001-2015 were analyzed retrospectively...
March 14, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28288183/maternal-use-of-drug-substrates-of-placental-transporters-and-the-effect-of-transporter-mediated-drug-interactions-on-the-risk-of-congenital-anomalies
#18
Aizati N A Daud, Jorieke E H Bergman, Monika P Oktora, Wilhelmina S Kerstjens-Frederikse, Henk Groen, Jens H Bos, Eelko Hak, Bob Wilffert
BACKGROUND: A number of transporter proteins are expressed in the placenta, and they facilitate the placental transfer of drugs. The inhibition of P-glycoprotein (P-gp) was previously found to be associated with an increase in the risk of congenital anomalies caused by drug substrates of this transporter. We now explore the role of other placental transporter proteins. METHODS: A population-based case-referent study was performed using cases with congenital anomalies (N = 5,131) from EUROCAT Northern Netherlands, a registry of congenital anomalies...
2017: PloS One
https://www.readbyqxmd.com/read/28286810/epidemiology-and-related-risk-factors-of-preterm-labor-as-an-obstetrics-emergency
#19
Ali Asghar Halimi Asl, Saeed Safari, Mohsen Parvareshi Hamrah
INTRODUCTION: Preterm birth is still a major health problem throughout the world, which results in 75% of neonatal mortality. Preterm labor not only inflicts financial and emotional distress, it may also lead to permanent disability. The present study was conducted to determine the related risk factors and preventive measures of preterm labor. METHODS: This retrospective cross-sectional study assessed all preterm labors, as well as an equal number of term labors, during seven years, at an educational hospital...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/28285310/incidence-and-causes-of-intentional-fetal-or-neonatal-demise-in-twin-twin-transfusion-syndrome
#20
Marjolijn S Spruijt, Ellen Tameeris, De-Peng Zhao, Johanna M Middeldorp, Monique C Haak, Dick Oepkes, Enrico Lopriore
INTRODUCTION: The aim of this study is to evaluate the incidence and causes of intentional fetal and neonatal demise in twin-twin transfusion syndrome (TTTS). MATERIAL AND METHODS: All TTTS pregnancies managed at our centre between 2000 and 2014 were included. We evaluated incidence and causes of intentional fetal/neonatal demise, defined as termination of pregnancy, selective fetal reduction, or withdrawal of neonatal intensive care. RESULTS: Intentional fetal/neonatal demise occurred in 9...
March 11, 2017: Fetal Diagnosis and Therapy
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