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Prenatal diagnosis

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https://www.readbyqxmd.com/read/28220580/molecular-diagnosis-of-von-willebrand-disease
#1
REVIEW
L Baronciani, A Goodeve, F Peyvandi
The role of molecular characterization in the diagnosis of von Willebrand disease (VWD) is not essential if the patients have been extensively investigated using phenotypic analysis. On the other hand, if some of these phenotype assays are not available, the identification of the mutation causing the disease could be crucial for an accurate diagnosis. Nevertheless, there are several reasons for performing molecular analysis in patients phenotypically well characterized, e.g. to identify the mutation causing VWD can be useful for patients and their family members when prenatal diagnosis is required (type 3 or severe type 2)...
February 20, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28220395/single-cell-sequencing-a-distinct-new-field
#2
REVIEW
Jian Wang, Yuanlin Song
Single cell sequencing (SCS) has become a new approach to study biological heterogeneity. The advancement in technologies for single cell isolation, amplification of genome/transcriptome and next-generation sequencing enables SCS to reveal the inherent properties of a single cell from the large scale of the genome, transcriptome or epigenome at high resolution. Recently, SCS has been widely applied in various clinical and research fields, such as cancer biology and oncology, immunology, microbiology, neurobiology and prenatal diagnosis...
December 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/28219116/prevalence-timing-of-diagnosis-and-pregnancy-outcome-of-abdominal-wall-defects-after-the-introduction-of-a-national-prenatal-screening-program
#3
Hanneke Fleurke-Rozema, Karline van de Kamp, Marian Bakker, Eva Pajkrt, Caterina Bilardo, Rosalinde Snijders
OBJECTIVE: To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. METHODS: A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was between 2009 and 2013. Outcome measures were gestational age at diagnosis, presence of additional anomalies, and pregnancy outcome...
February 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28219061/establishing-prenatal-surgery-for-myelomeningocele-in-asia-the-singapore-consensus
#4
Tuangsit Wataganara, Suresh Seshadri, Tak Yeung Leung, Citra Matter, Monawat Ngerncham, Namtip Triyasunant, Padmakar Vidyadhar Mali, Agnhitori Biswas, Katika Nawapun, Nisarat Phithakwatchara, Alan W Flake, Mark P Johnson, Arijit Biswas, Mahesh Choolani
OBJECTIVES: The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an initial effort to create a candidate model that can be applicable to many parts of Asia. MATERIAL AND METHODS: A limited selection of specialists from 4 established FTCs in Thailand, Hong Kong, India, and Singapore met for a round table discussion. Experts from Children's Hospital of Philadelphia (CHOP) involved in the Trial moderated the session...
February 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28217666/clinical-outcomes-and-neurodevelopmental-outcome-of-prenatally-diagnosed-agenesis-of-corpus-callosum-in-single-center-of-korea
#5
Sung Eun Kim, Hye-In Jang, Kylie Hae-Jin Chang, Ji-Hee Sung, Jiwon Lee, Jeehun Lee, Suk-Joo Choi, Soo-Young Oh, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. METHODS: We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center...
January 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28216077/prenatal-diagnosis-and-outcome-of-fetal-gastrointestinal-obstruction
#6
Patricio E Lau, Stephanie Cruz, Christopher I Cassady, Amy R Mehollin-Ray, Rodrigo Ruano, Sundeep Keswani, Timothy C Lee, Oluyinka O Olutoye, Darrell L Cass
INTRODUCTION: The purpose of this study was to evaluate the accuracy of prenatal diagnosis for fetuses with gastrointestinal (GI) obstruction with correlation to postnatal outcomes. METHODS: Fetuses diagnosed with GI obstruction (excluding esophageal and duodenal) were reviewed for those evaluated between 2006 and 2016. Prenatal diagnosis and imaging studies were compared to postnatal findings. Outcomes evaluated included diagnostic accuracy, rate of other anomalies, neonatal length of stay, incidence of short bowel syndrome, and discharge with TPN or gastrostomy...
January 29, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28215983/the-impact-of-symptoms-of-depression-and-walking-on-gestational-age-at-birth-in-african-american-women
#7
Carmen Giurgescu, Jaime C Slaughter-Acey, Thomas N Templin, Dawn P Misra
BACKGROUND: Symptoms of depression have been related to lower gestational age and preterm birth (<37 completed weeks gestation). Leisure time physical activity may have protective effects on preterm birth; however, less has been published with regard to other domains of physical activity such as walking for a purpose (e.g., for transportation) or the pathways by which symptoms of depression impact gestational age at birth. METHODS: This was a secondary analysis of available data of African American women...
February 15, 2017: Women's Health Issues: Official Publication of the Jacobs Institute of Women's Health
https://www.readbyqxmd.com/read/28215417/prenatal-diagnosis-of-the-criss-cross-heart
#8
Prasad Ravi, Deborah Fruitman, Lindsay Mills, Timothy Colen, Lisa K Hornberger
We sought to describe the prenatal features and postnatal outcomes of the "criss-cross heart" (CCH) with crossing atrioventricular connections as encountered in 5 cases and to review the literature regarding fetal diagnoses of this lesion. We reviewed the clinical history and fetal echocardiograms of 5 patients with a diagnosis of CCH encountered in our institution from 2010 to 2015. Affected pregnancies were identified through the University of Alberta fetal cardiology database. Fetal and postnatal echocardiograms, prenatal and postnatal clinical records, autopsy, and surgical reports were reviewed...
December 18, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/28215395/microarrays-in-prenatal-diagnosis
#9
REVIEW
Beatrice Oneda, Anita Rauch
In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced conventional karyotyping but has rapidly become the recommended test in pregnancies with ultrasound abnormalities. In this review, we provide an overview of the published data concerning this technology and the controversies concerning its use in the prenatal setting. There is abundant evidence indicating the added detection of pathogenic abnormalities with CMA in comparison to the traditional karyotyping, especially in fetuses with multiple or isolated ultrasound abnormalities such as congenital heart disease, increased nuchal translucency, or oral cleft...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28213879/arthrogryposis-multiplex-congenita-classification-diagnosis-perioperative-care-and-anesthesia
#10
REVIEW
Lulu Ma, Xuerong Yu
Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandibular joint mobility. Although the etiology of AMC is unclear, any factor that decreases fetal movement is responsible for AMC. Thus, accurate diagnosis and classification are crucial to the appropriate treatment of AMC. The development of ultrasound technology has enabled prenatal diagnosis. Very early treatment is favorable, and multidisciplinary treatment is necessary to improve the function of AMC patients...
February 17, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#11
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211131/congenital-diaphragmatic-hernia-outcomes-of-neonates-treated-at-mayo-clinic-with-and-without-extracorporeal-membrane-oxygenation
#12
Katarina Bojanić, Jason M Woodbury, Alexandre N Cavalcante, Ruža Grizelj, Garth F Asay, Christopher E Colby, William A Carey, Gregory J Schears, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare anomaly with high mortality and long-term comorbid conditions. AIMS: Our aim was to describe the presenting characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. METHODS: We performed a retrospective cohort study and identified consecutive neonates treated for CDH from 2001 to 2015 at our institution. For all patients identified, we reviewed hospital and postdischarge data for neonatal, disease, and treatment characteristics...
March 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28210519/achondroplasia-in-the-premature-infant-an-elusive-diagnosis-in-the-neonatal-intensive-care-unit
#13
Kimberly E Fagen, Anna R Blask, Eva I Rubio, Dorothy I Bulas
Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant.
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d-ultrasound-and-statistical-shape-modelling-a-feasibility-study
#14
Andrea Dall'Asta, Silvia Schievano, Jan L Bruse, Gowrishankar Paramasivam, Christine Tita Kaihura, David Dunaway, Christoph C Lees
BACKGROUND: The antenatal detection of facial dysmorphism using three-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and non invasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal three-dimensional ultrasound volumes and statistical shape modelling...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28208888/haemoglobinopathies-and-%C3%AE-thalassaemia-among-the-tribals-working-in-the-tea-gardens-of-assam-india
#15
Anju Barhai Teli, Rumi Deori, Sidhartha Protim Saikia
INTRODUCTION: Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less. AIM: The present study was carried out to determine the prevalence of haemoglobinopathies and β-thalassaemia among the tribals working in the tea gardens of Assam. MATERIALS AND METHODS: A total 1204 samples from the tribals working in tea gardens of Assam were analysed for both Complete Blood Count (CBC) and High Pressure Liquid Chromatography (HPLC) for detection of haemoglobinopathies and β-thalassaemia...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207930/elevation-of-glycosaminoglycans-in-the-amniotic-fluid-of-a-fetus-with-mucopolysaccharidosis-vii
#16
Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W Mason, Pravin Patel, Maira G Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A Moreno, Denise P Cavalcanti, Roberto Giugliani, Shunji Tomatsu
OBJECTIVE: The aim of this study was to quantify GAGs in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry (LC/MS/MS), compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized panel...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207161/prenatal-diagnosis-of-congenital-cytomegalovirus-infection-in-115-cases-a-5%C3%A2-years-single-centre-experience
#17
M Enders, A Daiminger, S Exler, K Ertan, G Enders, R Bald
OBJECTIVE: To investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital CMV infection from amniotic fluid (AF) and fetal blood (FB) METHODS: Retrospective study on 115 pregnancies with CMV primary infection. A total of 111 AF and 106 FB samples were investigated for various virological and non-virological markers. Detailed ultrasound examinations were performed at time of PD. RESULTS: Overall sensitivity of CMV PCR in FB (75.6%; 95%CI 60-87) and AF (72...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28205700/p-02-does-prenatal-diagnosis-modify-neonatal-management-and-early-outcome-of-children-with-esophageal-atresia
#18
C Garabedian, R Sfeir, C Langlois, P Truffert, D Subtil, F Gottrand, V Houfflin-Debarge
No abstract text is available yet for this article.
April 1, 2016: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/28205301/in-case-you-missed-it-the-prenatal-diagnosis-editors-bring-you-the-most-significant-advances-of-2016
#19
EDITORIAL
Tim Van Mieghem, Diana W Bianchi, Brynn Levy, Jan Deprest, Lyn S Chitty, Alessandro Ghidini
No abstract text is available yet for this article.
February 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#20
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners...
February 15, 2017: Familial Cancer
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