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Antenatal diagnosis

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https://www.readbyqxmd.com/read/29332155/prevalence-of-the-pfdhfr-and-pfdhps-mutations-among-asymptomatic-pregnant-women-in-southeast-nigeria
#1
Ekpereonne Esu, Costanza Tacoli, Prabhanjan Gai, Nicole Berens-Riha, Michael Pritsch, Thomas Loescher, Martin Meremikwu
Sulfadoxine-pyrimethamine (SP) is the recommended drug for intermittent preventive treatment of malaria in pregnancy in most of sub-Saharan Africa. Resistance to SP is related to mutations in the dhfr and dhps gene of Plasmodium falciparum. This study determined the prevalence of Pfdhfr and Pfdhps polymorphisms found in asymptomatic pregnant women attending antenatal care in Calabar, Nigeria. From October 2013 to November 2014, asymptomatic pregnant women attending antenatal care clinics were enrolled after obtaining informed consent...
January 13, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29331697/longitudinal-trajectories-of-post-traumatic-stress-disorder-ptsd-after-birth-and-associated-risk-factors
#2
Pelin Dikmen-Yildiz, Susan Ayers, Louise Phillips
BACKGROUND: Although longitudinal trajectories of post-traumatic stress disorder (PTSD) are well-established in general trauma populations, very little is known about the trajectories of birth-related PTSD. This study aimed to identify trajectories of birth-related PTSD; determine factors associated with each trajectory; and identify women more likely to develop birth-related PTSD. METHOD: 226 women who had traumatic childbirth according to DSM-IV criterion A were drawn from a community sample of 950 women...
January 2, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29330548/shox-haploinsufficiency-presenting-with-isolated-short-long-bones-in-the-second-and-third-trimester
#3
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29330267/case-of-acute-severe-postpartum-urinary-incontinence-an-extravesical-subsphincteric-prolapsed-ureterocoele
#4
Jai H Seth, Roger Walker
A 32-year-old woman presents to outpatients 10 days postpartum, with symptoms of an intermittent vaginal lump and urinary incontinence. Vaginal examination revealed no demonstrable prolapse or stress incontinence. A swelling in the bladder was noted during an antenatal scan suggesting a ureterocoele. She was referred for pelvic floor physiotherapy in the first instance. Forty-eight hours later, she represented to casualty with discomforting vaginal lump symptoms and continuous urinary incontinence. At this stage on vaginal inspection, there was an evident dusky lump emerging from the urethra with continuous incontinence...
January 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29324912/diuresis-renography-and-ultrasonography-in-children-with-antenatally-detected-hydronephrosis-can-support-diagnoses-and-suggest-related-surgery-treatment
#5
M Radulović, S Beatović, M Janković, Dragana Šobić-Šaranović, Vera Artiko, Boris Ajdinović
OBJECTIVE: Prenatal ultrasound (US) screening detects the hydronephrosis (HN)-dilatation of fetal renal collecting system in 1%-5% of all pregnancies. In most children, HN is detected by prenatal US screening between 18-20 gestational week. Pelvi- ureteric junction (PUJ) stenosis is the most common etiological factor of prenatal HN and requires postnatal follow-up. Diuresis renography plays important role in the follow-up by complementing morphological information obtained by US with the data about differential renal function (DRF) and drainage...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29305406/early-population-based-outcomes-of-infants-born-with-congenital-diaphragmatic-hernia
#6
Anna-May Long, Kathryn J Bunch, Marian Knight, Jennifer J Kurinczuk, Paul D Losty
PURPOSE: This study aims to describe short-term outcomes of live-born infants with congenital diaphragmatic hernia (CDH) and to identify prognostic factors associated with early mortality. DESIGN: A prospective population cohort study was undertaken between April 2009 and September 2010, collecting data on live-born infants with CDH from all 28 paediatric surgical centres in the UK and Ireland using an established surgical surveillance system. Management and outcomes are described...
January 4, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29295639/the-influence-of-fetal-sex-on-the-antenatal-diagnosis-of-small-for-gestational-age
#7
Grazia Volpe, Christos Ioannou, Angelo Cavallaro, Silvia Vannuccini, Sara Ruiz-Martinez, Lawrence Impey
OBJECTIVE: We evaluated the influence of fetal sex on the antenatal diagnosis and detection of small for gestational age (SGA). METHODS: The cohort consisted of unselected singleton pregnancies, undergoing routine biometry and cerebroplacental ratio (CPR) assessment at 36 weeks. Locally fitted equations for centiles and Z scores were used. "Ultrasound SGA" was defined as estimated fetal weight (EFW) < 10th centile, "SGA at birth" as birthweight (BW) < 10th centile adjusted for sex...
January 2, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29288183/performance-of-syndromic-management-for-the-detection-and-treatment-of-genital-chlamydia-trachomatis-neisseria-gonorrhoeae-and-trichomonas-vaginalis-among-women-attending-antenatal-well-woman-and-sexual-health-clinics-in-papua-new-guinea-a-cross-sectional-study
#8
Lisa M Vallely, Pamela Toliman, Claire Ryan, Glennis Rai, Johanna Wapling, Josephine Gabuzzi, Joyce Allen, Christine Opa, Gloria Munnull, Petronia Kaima, Benny Kombuk, Antonia Kumbia, Zure Kombati, Greg Law, Angela Kelly-Hanku, Handan Wand, Peter M Siba, Glen D L Mola, John M Kaldor, Andrew J Vallely
OBJECTIVE: Papua New Guinea (PNG) has among the highest estimated prevalences of genital Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG) and Trichomonas vaginalis (TV) of any country in the Asia-Pacific region. Diagnosis and treatment of these infections have relied on the WHO-endorsed syndromic management strategy that uses clinical presentation without laboratory confirmation to make treatment decisions. We evaluated the performance of this strategy in clinical settings in PNG...
December 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/29287141/isolated-coarctation-of-the-aorta-in-the-fetus-a-diagnostic-challenge
#9
Joshua A Kailin, Alexia B Santos, Betul Yilmaz Furtun, S Kristen Sexson Tejtel, Regina Lantin-Hermoso
Isolated coarctation of the aorta (CoA) is estimated by the Centers for Disease Control and Prevention to account for 4%-6% of all congenital heart disease (CHD) in the United States, with a reported prevalence of ~4 per 10 000 live births. Prenatal recognition of coarctation is important as it may improve neonatal survival and reduce morbidity. However, despite advances in imaging and the trend toward detailed aortic arch assessment as part of a comprehensive fetal echocardiogram, isolated CoA may still elude prenatal detection, with potentially lethal consequences if the diagnosis is not suspected and the patent ductus arteriosus (PDA) closes spontaneously in postnatal life...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29283090/prenatally-detected-unilateral-high-grade-hydronephrosis-can-we-predict-the-natural-history
#10
Osama M Sarhan, Ahmed El Helaly, Abdul Hakim Al Otay, Mustafa Al Ghanbar, Ziad Nakshabandi
INTRODUCTION: Fetal hydronephrosis (HN) occurs in around 5% of pregnancies and its prognosis depends mainly on the grade of the dilation. We attempted to determine the fate of isolated, unilateral, high-grade HN in children with antenatal diagnosis, emphasizing the risk factors for progression. METHODS: We retrospectively evaluated 424 children (690 kidney units) with antenatal HN in the period between 2010 and 2014. We included only those patients with isolated showed SFU Grade 3 HN in 24 (54%) and SFU Grade 4 HN in 20 (46%)...
December 22, 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29278829/efficacy-of-maternal-and-biological-parameters-at-the-time-of-diagnosis-of-gestational-diabetes-mellitus-in-predicting-neonatal-morbidity
#11
Guillaume Ducarme, François Desroys Du Roure, Aurélie Le Thuaut, Joséphine Grange, Jérôme Dimet, Ingrid Crepin-Delcourt
OBJECTIVE: Gestational diabetes mellitus (GDM) is independently associated with an increased risk of maternal-fetal complications. Improved glycemic control allows reducing perinatal morbidity and mortality and, specifically, the risk of macrosomia and shoulder dystocia which are the most common complications associated with GDM. Nonetheless, a need for early antenatal predictor of neonatal morbidity in women suffering from GDM is required. The objective of the study was to evaluate the efficacy of different maternal, biological, and antenatal parameters at the time of diagnosis of GDM or perinatal variables as predictors of neonatal morbidity...
December 19, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#12
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29251180/maternal-steroid-therapy-for-fetuses-with-immune-mediated-complete-atrioventricular-block-a-systematic-review-and-meta-analysis
#13
Andrea Ciardulli, Francesco D'Antonio, Elena Rita Magro-Malosso, Gabriele Saccone, Lamberto Manzoli, Mackenzy Radolec, Vincenzo Berghella
INTRODUCTION: To explore the effect of maternal fluorinated steroid therapy on fetuses affected by immune-mediated complete atrio-ventricular block (CAVB) in utero. MATERIAL AND METHODS: Pubmed, Embase, Cinahl and ClinicalTrials.gov databases were searched. Only studies reporting the outcome of fetuses with immune CAVB diagnosed on prenatal ultrasound without any cardiac malformations and treated with fluorinated steroids compared to those not treated were included...
December 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29243247/randomized-cross-over-trial-comparing-the-diagnosis-of-gestational-diabetes-by-oral-glucose-tolerance-test-and-a-designed-breakfast-glucose-profile
#14
Colin Marais, David R Hall, Lourentia van Wyk, Magda Conradie
OBJECTIVE: To compare a glucose test based on a standardized, designed breakfast to the 75-g oral glucose tolerance test (OGTT), comparing venous and capillary glucose values for the diagnosis of gestational diabetes mellitus (GDM). METHODS: The present prospective, randomized, cross-over trial enrolled patients at high risk of developing GDM who were attending the High-Risk Antenatal Clinic of Tygerberg Hospital, Cape Town, South Africa, between March 1, 2015, and December 31, 2015...
December 15, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29228827/conservative-versus-active-management-in-hellp-syndrome-results-from-a-cohort-study
#15
Marie Cavaignac-Vitalis, Fabien Vidal, M D Caroline Simon-Toulza, Pierre Boulot, Paul Guerby, Elodie Chantalat, Parant M D Olivier
OBJECTIVE: HELLP syndrome exposes to severe maternal and fetal complications. Prompt delivery is thus recommended after 34 weeks of gestation, or earlier in case of nonreassuring maternofetal conditions. However, no consensus has been raised in the treatment of HELLP syndrome occurring before 34 weeks of gestation, when both maternal and fetal conditions are stable: it remains still unclear whether an active attitude should be prioritized over expectant management. Herein we aimed to compare mother and child outcomes according to the type of obstetrical management, either active or conservative...
December 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29225681/successful-pregnancy-in-the-context-of-previously-undiagnosed-chronic-lymphocytic-leukaemia-a-case-report-and-literature-review
#16
Farshad Tahmasebi, Khawar Hussain, Georgina Smart, Manish Gupta, Upal Hossain
An asymptomatic 36-year-old woman presented with significantly elevated white blood cells (165.9 × 109/L) at antenatal booking, in her first pregnancy. Further investigations revealed the diagnosis of chronic lymphocytic leukaemia with monoallelic deletion of chromosome 13q14. She was supported and monitored through out pregnancy, without treatment, and delivered a healthy baby boy at term with no complications and is currently being followed up by the haem-oncology team.
December 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/29225145/surprisingly-good-outcome-in-antenatal-diagnosis-of-severe-hydrocephalus-related-to-ccdc88c-deficiency
#17
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Erica Jacobson, Lucy Bowyer, David Mowat, Anita Rauch
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention...
December 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29223964/assessing-stakeholder-perceptions-of-the-acceptability-and-feasibility-of-national-scale-up-for-a-dual-hiv-syphilis-rapid-diagnostic-test-in-malawi
#18
Brandy L Peterson Maddox, Shauntā S Wright, Hazel Namadingo, Virginia B Bowen, Geoffrey A Chipungu, Mary L Kamb
OBJECTIVES: The WHO recommends pregnant women receive both HIV and syphilis testing at their first antenatal care visit, as untreated maternal infections can lead to severe, adverse pregnancy outcomes. One strategy for increasing testing for both HIV and syphilis is the use of point-of-care (rapid) diagnostic tests that are simple, proven effective and inexpensive. In Malawi, pregnant women routinely receive HIV testing, but only 10% are tested for syphilis at their first antenatal care visit...
December 2017: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/29223928/are-there-risk-factors-for-false-positive-malformation-diagnoses-on-obstetric-ultrasound-a-nested-case-control-study
#19
A Debost-Legrand, I Perthus, O Rivière, D Gallot, D Lémery, F Vendittelli
INTRODUCTION: In a population-based study, we found an overall false-positive rate of 8.8% for the second and third trimester ultrasounds. Although numerous studies have been performed to examine factors which lead to false negatives, the same is not true for the factors associated with false positives. The principal objective of this study was to look for risk factors for false-positive diagnoses of fetal malformations on obstetric ultrasound scans. MATERIAL AND METHODS: In this nested case-control study, the case infants were those whose mother had a false-positive antenatal ultrasound diagnosis of a malformation during the second or third trimester (ultrasound false-positives) and who were live- or stillborn in Auvergne in 2006-2010...
December 6, 2017: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29222094/case-based-discussion-from-the-neonatal-intensive-care-unit-a-case-of-an-intentional-oesophageal-intubation
#20
Katharine Jamieson, Stephanie Boyd, Susern Tan, Davina Wong, Paul James, Andrew Durward, Andrew Nyman
Tracheal agenesis (TA) is a rare congenital defect consisting of complete or partial absence of the trachea below the larynx. Antenatal diagnosis is challenging, and most cases are detected in the postnatal period. Airway management of such cases, particularly in the absence of antenatal diagnosis, can be challenging. Various methods of management have been described but with limited success, and overall prognosis remains very poor. We present an unexpected case of TA, highlighting management issues and diagnostic methods...
December 8, 2017: Thorax
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