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https://www.readbyqxmd.com/read/27923540/fetal-cytomegalovirus-infection
#1
REVIEW
Marianne Leruez-Ville, Yves Ville
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. However, systematic screening for this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox had been justified by persisting gaps in the knowledge of this congenital infection: uncertain epidemiological data, difficulty in the diagnosis of maternal infection, absence of validated prenatal prognostic markers, unavailability of an efficient vaccine and scarcity of data available on the treatment...
October 20, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27920854/recurrent-urinary-tract-infections-in-an-adult-with-a-duplicated-renal-collecting-system
#2
Junaid Raja, Amir M Mohareb, Bilori Bilori
Because of advancements in fetal imaging, anatomic variants of the genitourinary tract are most often discovered in the antenatal period. As such, general internists are less likely to encounter adult patients with previously undiagnosed anatomic abnormalities of the renal collecting system, such as duplicated kidneys. These abnormalities put patients at risk for urinary obstruction and recurrent infections of the urinary tract. We report the case of a 40-year-old diabetic patient with a previously undiagnosed duplex kidney who had recurrent episodes of diabetic ketoacidosis triggered by urinary tract infections...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#3
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27907850/automated-annotation-and-quantitative-description-of-ultrasound-videos-of-the-fetal-heart
#4
Christopher P Bridge, Christos Ioannou, J Alison Noble
Interpretation of ultrasound videos of the fetal heart is crucial for the antenatal diagnosis of congenital heart disease (CHD). We believe that automated image analysis techniques could make an important contribution towards improving CHD detection rates. However, to our knowledge, no previous work has been done in this area. With this goal in mind, this paper presents a framework for tracking the key variables that describe the content of each frame of freehand 2D ultrasound scanning videos of the healthy fetal heart...
November 19, 2016: Medical Image Analysis
https://www.readbyqxmd.com/read/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#5
Clovis Nkoke, Edvine Yonta Wawo, Liliane Kuate Mfeukeu, Larissa Makamte, Sandrine Dikosso Edie, Flore Esiene Balana
Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27900089/pregnancy-and-cesarean-delivery-after-multimodal-therapy-for-vulvar-carcinoma-a-case-report
#6
Kuniaki Toriyabe, Haruki Taniguchi, Tokihiro Senda, Masako Nakano, Yoshinari Kobayashi, Miho Izawa, Hirohiko Tanaka, Tetsuo Asakura, Tsutomu Tabata, Tomoaki Ikeda
Reports of pregnancy following treatment for vulvar carcinoma are extremely uncommon, as the main problem of subsequent pregnancy is vulvar scarring following radical surgery. We herein report the case of a patient who was diagnosed with stage I squamous cell carcinoma of the vulva at the age of 17 years and was treated with multimodal therapy, including neoadjuvant chemotherapy, wide local excision with bilateral inguinal lymph node dissection and adjuvant radiotherapy. The patient became pregnant spontaneously 9 years after her initial diagnosis and the antenatal course was good, except for mild acute pyelonephritis at 25 weeks of gestation...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27896159/intestinal-atresia-experience-at-a-busy-center-of-north-west-india
#7
Shilpi Gupta, Rahul Gupta, Soumyodhriti Ghosh, Arun Kumar Gupta, Arvind Shukla, Vinita Chaturvedi, Praveen Mathur
Objective: To evaluate the presentation, management, complications and outcome of intestinal atresia (IA) managed at our center over a period of 1 year. Materials and methods: Records of patients of IA admitted in our center from January 2015 to December 2015 were retrospectively analyzed. Demographic data, antenatal history, presenting complaints, location (duodenal, jejunoileal, colonic) of atresia, surgery performed and peri-operative complications were noted. Results: Total 78 cases of IA were included in the analyses...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895930/obstetric-patients-in-intensive-care-unit-perspective-from-a-teaching-hospital-in-pakistan
#8
Rahat Qureshi, Sheikh Irfan Ahmed, Amir Raza, Ayesha Khurshid, Uzma Chishti
OBJECTIVE: Review of obstetric cases admitted to the intensive care unit. DESIGN: Ten year retrospective review of individual patients' medical records. PARTICIPANTS: Records of obstetric patients admitted from 2005-2014. SETTING: Aga Khan University Hospital Karachi. MAIN OUTCOME MEASURES: Diagnosis at the time of admission, associated risk factors, and intervention required aspects of management and rate of mortality...
November 2016: JRSM Open
https://www.readbyqxmd.com/read/27894353/provider-and-user-acceptability-of-intermittent-screening-and-treatment-for-the-control-of-malaria-in-pregnancy-in-malawi
#9
Deborah Almond, Mwayi Madanitsa, Victor Mwapasa, Linda Kalilani-Phiri, Jayne Webster, Feiko Ter Kuile, Lucy Paintain
BACKGROUND: Malaria in pregnancy is a major cause of adverse maternal and fetal outcomes. Intermittent preventive treatment with sulfadoxine-pyrimethamine (IPTp-SP) is one of the control strategies promoted by WHO. In response to mounting resistance to SP, intermittent screening and treatment (ISTp) has been proposed as an alternative. The objective of this study was to explore the acceptability of ISTp for health workers and pregnant women. METHODS: Semi-structured interviews of ten health workers and five focus group discussions of 38 women enrolled in an ongoing trial comparing IPTp-SP and ISTp with dihydroartemisinin-piperaquine (DP) were conducted at two antenatal clinics in rural Malawi...
November 28, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#10
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27882752/-bronchopulmonary-sequestration
#11
J Bombová, M Lubušký
OBJECTIVE: To describe the case of prenatal diagnosis of bronchopulmonary sequestration and compelete spontaneous antenatal regresion of the lesion. DESIGN: Case report and review of the literature. SETTING: Complex Cancer Center Novy Jicin, Department of Obstetrics and Gynecology Palacky University Hospital Olomouc. CASE REPORT: We describe the case reports about the complete regression of a quite large bronchopulmonary sequestration during pregnancy...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27880069/role-of-first-trimester-hba1c-as-a-predictor-of-adverse-obstetric-outcomes-in-a-multi-ethnic-cohort
#12
Laura Mañé, Juana Antonia Flores-Le Roux, David Benaiges, Marta Rodríguez, Irene Marcelo, Juan José Chillarón, Juan Pedro-Botet, Gemma Llauradó, Lucía Gortazar, Ramón Carreras, Antonio Payà
CONTEXT: Risk of obstetric complications increases linearly with rising maternal glycaemia. Testing HbA1c is an effective option to detect hyperglycemia but its association with adverse pregnancy outcomes remains unclear. Emerging data sustains that an early HbA1c≥5.9% could act as a pregnancy risk marker. OBJECTIVE: To determine, in a multi-ethnic cohort, whether an early ≥5.9% HbA1c could be useful to identify women without diabetes mellitus at increased pregnancy risk...
November 23, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27874184/antenatal-ultrasound-features-in-fetuses-with-gastroschisis-and-its-prediction-in-neonatal-outcome
#13
Jessica A Robertson, Roy M Kimble, Kellie Stockton, Renuka Sekar
BACKGROUND: Gastroschisis is the most common major congenital anomaly managed by paediatric surgeons. The significance of certain associated antenatal ultrasound features in determining fetal outcome is under discussion. AIM: The study aims to define if associated antenatal ultrasound features of gastroschisis are useful prognostic markers for fetal outcome. By establishing the significance of features, including extra- and intra-abdominal bowel dilatation, stomach herniation, stomach dilatation, bowel matting, growth restriction, abnormal umbilical artery (UA) Doppler ultrasounds, and abnormal amniotic fluid volume, it is hoped clinicians will have enhanced ability to counsel parents about the likely outcomes for their infant...
November 22, 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27872760/factors-associated-with-pmtct-cascade-completion-in-four-african-countries
#14
Jodie Dionne-Odom, Thomas K Welty, Andrew O Westfall, Benjamin H Chi, Didier Koumavi Ekouevi, Margaret Kasaro, Pius M Tih, Alan T N Tita
Background. Many countries are working to reduce or eliminate mother-to-child transmission (MTCT) of HIV. Prevention efforts have been conceptualized as steps in a cascade but cascade completion rates during and after pregnancy are low. Methods. A cross-sectional survey was performed across 26 communities in Cameroon, Cote d'Ivoire, South Africa, and Zambia. Women who reported a pregnancy within two years were enrolled. Participant responses were used to construct the PMTCT cascade with all of the following steps required for completion: at least one antenatal visit, HIV testing performed, HIV testing result received, initiation of maternal prophylaxis, and initiation of infant prophylaxis...
2016: AIDS Research and Treatment
https://www.readbyqxmd.com/read/27864598/impact-of-fetal-counseling-on-outcome-of-antenatal-congenital-surgical-anomalies
#15
Shilpa Sharma, Ranjana Bhanot, Dipika Deka, Minu Bajpai, Devendra K Gupta
AIM: To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). METHODS: Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. RESULTS: 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39 weeks (median 24;32 weeks)...
November 18, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27864101/targeted-exome-sequencing-identifies-novel-compound-heterozygous-mutations-in-p3h1-in-a-fetus-with-osteogenesis-imperfecta-type-viii
#16
Yanru Huang, Libin Mei, Weigang Lv, Haoxian Li, Rui Zhang, Qian Pan, Hu Tan, Jing Guo, Xiaomei Luo, Chen Chen, Desheng Liang, Lingqian Wu
Osteogenesis imperfecta (OI) is a highly clinically and genetically heterogeneous group of disorders. It is difficult to identify severe OI in the perinatal period. Here, a Chinese woman with a suspected history of fetal OI was referred to our institution at 19weeks of gestation, due to ultrasound inspection during antenatal screening, which revealed bulbous metaphyses, short humeri, and short thick bent femora in the fetus. Using targeted exome sequencing of 248 genes known to be involved in skeletal system diseases, we identified novel compound heterozygous mutation in the P3H1 gene in the fetus with OI type VIII: c...
November 15, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27863534/diagnosis-a-posteriori-assessing-gestational-diabetes-screening-and-management-in-morocco
#17
Bettina Utz, Bouchra Assarag, Amina Essolbi, Amina Barkat, Yassir Ait Benkaddour, Vincent De Brouwere
BACKGROUND: In Morocco, gestational diabetes affects 1 in 10 pregnant women, but knowledge about screening and management practices outside university settings is limited. OBJECTIVE: To provide a comprehensive picture about the current situation of screening and management of gestational diabetes at different levels of care and to highlight existing challenges. DESIGN: We conducted a descriptive mixed methods study in the districts of Al Haouz and Marrakech by using both quantitative and qualitative methods, including document reviews of 369 antenatal cards and 299 hospital files, health facility inventories related to resource availability, 20 key informant interviews as well as focus group discussions with 32 pregnant women and exit interviews with 122 antenatal care (ANC) clients...
2016: Global Health Action
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#18
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few antenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27857793/newborn-with-meroanencephaly-surviving-all-odds
#19
Iraj Alam Khan, Uzma Firdaus, Syed Manazir Ali, Imran Asghar
Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms - meroanencephaly, holoanencephaly, and craniorachischisis. Meroanencephaly is considered to be the classic form of anencephaly. It manifests as a lack of cranial vault bones and exposed dorsal neural tissue resulting from defective neural tube closure in the very early period of gestation...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27856007/-diagnosis-evolution-and-prognosis-of-prenatally-diagnosed-suprasellar-cysts
#20
F Di Rocco, A André, T Roujeau, L Selek, Y Ville, C Garel, M Zérah
Suprasellar arachnoid cysts (SAC) in children are considered rare, but the incidence is increasing due to the improvement of prenatal diagnosis. We present 15 cases of SAC diagnosed during the antenatal period between 2005 and 2015. The records were reviewed retrospectively by specifying the radiological characteristics, treatment modalities, outcomes, and long-term monitoring. Mean follow-up was 71 months. The forms (SAC-1) accounted for 2 cases (13%) with hydrocephalus. We observed 8 (53%) lower forms (SAC-2) with interpeduncular cistern expansion without hydrocephalus...
December 2016: Neuro-Chirurgie
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