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Antenatal diagnosis

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https://www.readbyqxmd.com/read/28634753/fetal-cephaloceles-prenatal-diagnosis-and-course-of-pregnancy-in-65-consecutive-cases
#1
Jan Weichert, Friederike Hoellen, Martin Krapp, Ute Germer, Roland Axt-Fliedner, Andrea Kempe, Annegret Geipel, Christoph Berg, Ulrich Gembruch
PURPOSE: To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers. METHODS: We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome. RESULTS: The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10...
June 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28631022/risk-analysis-and-outcomes-of-bronchopulmonary-sequestrations
#2
Chun Hong, Gang Yu, Jing Tang, QianLi Liu, Bo Xia
BACKGROUND: Researched and discussed the risks and outcomes of bronchopulmonary sequestrations, especially the intralobar type. METHODS: A retrospective review of our experiences with bronchopulmonary sequestrations from January 2012 to April 2015 is reported. The present study researched and discusses the risks and outcomes of bronchopulmonary sequestrations, especially the intralobar type, compared with other types of bronchopulmonary sequestrations in symptoms, surgery, pathology, and excretion...
June 19, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28622418/severe-apparently-isolated-fetal-ventriculomegaly-and-neurodevelopmental-outcome
#3
Mathilde Letouzey, Alexandra Chadie, Marie Brasseur-Daudruy, François Proust, Eric Verspyck, Pascal Boileau, Stéphane Marret
OBJECTIVE: To assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: Retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by Magnetic Resonance Imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28620733/management-of-congenital-diaphragmatic-hernia-in-newborn-paradigm-shift-and-ethical-issues
#4
Sushmita Nitin Bhatnagar, Yogesh Kumar Sarin
Management of congenital diaphragmatic hernia (CDH) begins soon after it is detected, whether antenatally or postnatally. Assessment of the severity of the condition, associated congenital anomalies, maternal health and related issues, weight of the fetus/baby, mode of delivery, timing of delivery, immediate appropriate management of the baby with CDH at birth, appropriate utilization of available treatment modalities as well as infrastructure of the treating institute have an impact on the outcome of the neonate...
June 16, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#5
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28598325/human-t-lymphotropic-viruses-htlv-in-england-and-wales-2004-to-2013-testing-and-diagnoses
#6
Georgina Ireland, Sara Croxford, Jennifer Tosswill, Rajani Raghu, Katy Davison, Patricia Hewitt, Ruth Simmons, Graham Taylor
Human T-lymphotropic virus (HTLV) infection has been under enhanced surveillance in England and Wales since 2002, however, little is known about testing patterns. Using data from two surveillance systems held at Public Health England, we described HTLV antibody testing patterns between 2008 and 2013 and the demographic and clinical characteristics of persons diagnosed with HTLV in England and Wales between 2004 and 2013. An increase in HTLV testing was observed in England between 2008 and 2013 (3,581 to 7,130)...
May 18, 2017: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/28593553/prenatal-diagnosis-of-spina-bifida-from-intracranial-translucency-to-intrauterine-surgery
#7
Waldo Sepulveda, Amy E Wong, Francisco Sepulveda, Juan L Alcalde, Juan C Devoto, Felipe Otayza
Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign)...
June 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28593002/management-and-outcomes-of-cystic-hygromas-experience-of-a-tertiary-center
#8
Gokcen Orgul, Ozgur Ozyuncu, Ahmet Oktem, M Sinan Beksac
PURPOSE: Cystic hygroma (CH) is a fetal sonographic finding with an incidence of 1%. Chromosomal abnormalities and structural malformations are commonly related with CH. We aimed to describe our experience and determine the association between diagnosis of CH and adverse pregnancy outcome. METHODS: We retrospectively reviewed data of prenatal CH diagnoses over a ten-year period. Cases were evaluated for maternal age, gestational week at CH diagnosis, invasive procedure, karyotype result, associated abnormality and perinatal outcome...
June 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/28588110/clinicians-perspectives-of-parental-decision-making-following-diagnosis-of-a-severe-congenital-anomaly-a-qualitative-study
#9
Robyn Lotto, Lucy K Smith, Natalie Armstrong
OBJECTIVE: To explore clinicians' perspectives on supporting parents' decision-making following diagnosis of a severe congenital anomaly, and how this is shaped by current policy. METHODS: This paper reports data collated as part of a larger project examining parents' decision-making following antenatal diagnosis. The focus of this paper is the data arising from semistructured interviews conducted with 18 clinicians, with findings further supported by data generated from consultations between clinicians and parents...
June 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28587699/accurate-diagnosis-of-chd-by-paediatricians-with-expertise-in-cardiology
#10
Hannah C Jacob, Hannah Massey, Robert W M Yates, A Wilfred Kelsall
Introduction Paediatricians with Expertise in Cardiology assess children with a full history, examination, and often perform an echocardiogram. A minority are then referred to an outreach clinic run jointly with a visiting paediatric cardiologist. The accuracy of the echocardiography diagnosis made by the Paediatrician with Expertise in Cardiology is unknown. Materials and methods We conducted a retrospective review of clinic letters for children seen in the outreach clinic for the first time between March, 2004 and March, 2011...
June 7, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28583154/a-cohort-analysis-of-neonatal-hospital-mortality-rate-and-predictors-of-neonatal-mortality-in-a-sub-urban-hospital-of-cameroon
#11
Paul Koki Ndombo, Quinta Mua Ekei, Joel Noutakdie Tochie, Mazou Ngou Temgoua, Francky Teddy Endomba Angong, Ferdinand Ndom Ntock, Lawrence Mbuagbaw
BACKGROUND: In Cameroon, sustainable effort needs to be done to reduce the current neonatal mortality rate from 21 deaths per 1000 live births to the global target of fewer than ten deaths per 1000 live births by 2035. We aimed to determine the neonatal hospital mortality rate and predictors of neonatal hospital mortality (NHM) in a major referral sub-urban hospital of Cameroon in a bit to formulate interventions to curb this burden. METHODS: This was a prospective cohort study consecutively enrolling all neonates admitted into the neonatology unit of the Bamenda Regional Hospital (BRH) from November 2015 to February 2016...
June 5, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28579879/sonographic-diagnosis-and-clinical-significance-of-umbilical-arterial-atresia
#12
Jinhe Ren
To evaluate the feasibility of antenatal sonographic diagnosis of umbilical arterial atresia and its clinical significance. Data of 5 cases with umbilical arterial atresia diagnosed in our hospital were studied retrospectively. The antenatal ultrasonogram of umbilical arterial atresia was obtain, and the pathological examination of umbilical cords and the prognosis of neonates were analyzed. Among 5 cases with umbilical arterial atresia in this group, 1 case with double umbilical arterial atresia was found with dead fetus in uterus, and the rest 4 cases with single umbilical arterial atresia were found with survival fetuses...
May 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28579717/thoracic-ectopia-cordis-in-an-ethiopian-neonate
#13
Henok Tadele, Abeje Chanie
BACKGROUND: Ectopia Cordis is defined as complete or partial displacement of the heart outside the thoracic cavity. It is a rare congenital defect with failure of fusion of the sternum with extra thoracic location of the heart. The estimated prevalence of this case is 5.5 to 7.9 per million live births. CASE PRESENTATION: We had a case of a 16-hour-old male neonate weighing 2.9kg with externally visible, beating heart over the chest wall. Initial treatment included covering the heart with sterile-saline soaked dressing, starting systemic antibiotics and supportive care...
March 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28578724/association-between-gestational-diabetes-and-perinatal-depressive-symptoms-evidence-from-a-greek-cohort-study
#14
Pinelopi Varela, Areti C Spyropoulou, Zacharias Kalogerakis, Eleni Vousoura, Martha Moraitou, Iannis M Zervas
Aim The aim of the present study was to assess the association of gestational diabetes mellitus (GDM) with prenatal and postnatal depressive symptoms in a sample of pregnant women in Greece. BACKGROUND: Earlier research supports a relationship between depression and diabetes, but only a few studies have examined the relationship between GDM and perinatal depressive symptomatology. METHODS: A total of 117 women in their third trimester of pregnancy participated in the study...
June 5, 2017: Primary Health Care Research & Development
https://www.readbyqxmd.com/read/28571514/obstetric-ultrasound-aids-prompt-referral-of-gestational-trophoblastic-disease-in-marginalized-populations-on-the-thailand-myanmar-border
#15
Kathryn McGregor, Aung Myat Min, Noaeni Karunkonkowit, Suporn Keereechareon, Mary Ellen Tyrosvoutis, Nay Win Tun, Marcus J Rijken, Gabie Hoogenboom, Machteld Boel, Kesinee Chotivanich, François Nosten, Rose McGready
BACKGROUND: The use of obstetric ultrasound in the diagnosis of gestational trophoblastic disease (GTD) in high-income settings is well established, leading to prompt management and high survival rates. Evidence from low-income settings suggests ultrasound is essential in identifying complicated pregnancies, but with limited studies reviewing specific conditions including GTD. OBJECTIVE: The aim of this study is to review the role of ultrasound in diagnosis and management of GTD in a marginalized population on the Thailand-Myanmar border...
2017: Global Health Action
https://www.readbyqxmd.com/read/28571229/role-of-echocardiography-in-prenatal-screening-of-congenital-heart-diseases-and-its-correlation-with-postnatal-outcome
#16
Shivani Sharma, Navkiran Kaur, Khushpreet Kaur, Naveen Chandrashekhar Pawar
INTRODUCTION: Congenital Heart Defects (CHDs) are one of the most common forms of congenital anomalies. Fetal echocardiography performed during second trimester aims at early diagnosis of congenital heart disease which is instrumental in proper planning of delivery, perinatal care and counselling of parents. AIM: To evaluate the role of fetal echocardiography in prenatal screening of CHDs and to study the role of associated extracardiac anomalies. MATERIALS AND METHODS: This was a hospital based prospective and correlative type of study, done over a period of one year...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28567106/antenatal-ultrasonography-findings-and-magnetic-resonance-imaging-in-a-case-of-pena-shokeir-phenotype
#17
Xuan-Hong Tomai, Thanh-Xuan Jasmine, Thanh-Hai Phan
Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype...
May 2017: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/28566819/neonates-with-critical-congenital-heart-defects-impact-of-fetal-diagnosis-on-immediate-and-short-term-outcomes
#18
Sylvia Michael Colaco, Tanuja Karande, Prashant Raviprakash Bobhate, Rashmi Jiyani, Suresh G Rao, Snehal Kulkarni
BACKGROUND: Fetal echocardiography is being increasingly used for prenatal diagnosis of congenital cardiac malformations, but its impact on the neonatal outcomes in low- and middle-income countries is still unknown. AIMS: The objective of this study is to determine the impact of fetal echocardiography on immediate postnatal and short-term outcome in a tertiary pediatric cardiac center. STUDY DESIGN: This is a prospective study. MATERIALS AND METHODS: One hundred consecutive patients with critical congenital heart defects (CHD) requiring active medical or surgical interventions in the 1(st) month of life were included in the study...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28557355/screening-methods-for-obstructive-sleep-apnoea-in-severely-obese-pregnant-women
#19
H Longworth, K McCallin, R P Narayanan, M A Turner, S Quenby, D Rycroft, M Charnley, J Abayomi, J Topping, A D Weeks, J P H Wilding
Obstructive sleep apnoea (OSA) is an often-overlooked diagnosis, more prevalent in the obese population. Screening method accuracy, uptake and hence diagnosis is variable. There is limited data available regarding the obese pregnant population; however, many studies highlight potential risks of apnoeic episodes to mother and foetus, including hypertension, diabetes and preeclampsia. A total of 162 women with a body mass index (BMI) ≥ 35 were recruited from a tertiary referral hospital in the northwest of England...
May 29, 2017: Clinical Obesity
https://www.readbyqxmd.com/read/28555925/functional-severity-of-clcnkb-mutations-correlates-with-phenotypes-in-patients-with-classic-bartter-s-syndrome
#20
Chih-Jen Cheng, Yi-Fen Lo, Jen-Chi Chen, Chou-Long Huang, Shih-Hua Lin
Mutations in CLCNKB gene encoding human voltage-gated chloride ClC-Kb (hClC-Kb) channel cause classic Bartter's syndrome (BS). In contrast to antenatal BS, classic BS manifests highly variable phenotypes. The functional severity of mutant channel has been proposed to explain this phenomenon. Due to difficulties in the expression of hClC-Kb in heterologous expression systems, the functional consequences of mutant channels haven't been thoroughly examined, and the genotype-phenotype association hasn't been established...
May 27, 2017: Journal of Physiology
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