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https://www.readbyqxmd.com/read/29781076/first-trimester-combined-screening-for-fetal-aneuploidies-enhanced-with-additional-ultrasound-markers-an-8-year-prospective-study
#1
Dragos Nemescu, Adina Bratie, Alexandra Mihaila, Dan Navolan, Adina Tanase
OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A)...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29780421/umbilical-cord-hematoma-a-case-report-and-review-of-the-literature
#2
REVIEW
Gennaro Scutiero, Bernardi Giulia, Piergiorgio Iannone, Luigi Nappi, Danila Morano, Pantaleo Greco
Objectives: To deepen the knowledge in obstetrics on a very rare pregnancy complication: umbilical cord hematoma. Methods: A review of the case reports described in the last ten years in the literature was conducted in order to evaluate epidemiology, predisposing factors, potential outcomes, prenatal diagnosis, and clinical management. Results: Spontaneous umbilical cord hematoma is a rare complication of pregnancy which represents a serious cause of fetal morbidity and mortality...
2018: Obstetrics and Gynecology International
https://www.readbyqxmd.com/read/29779410/personalized-charts-for-the-fetal-corpus-callosum-length
#3
Abraham Tsur, Boaz Weisz, Orgad Rosenblat, Daniel Shai, Estela Derazne, David K Stevenson, Reuven Achiron, Eldad Katorza
OBJECTIVE: To personally customize the antenatal ultrasound charts for the fetal corpus callosum (CC) length. METHODS: A retrospective analysis of fetal neuro-sonography scans. Cases were grouped as normal neuro-sonographic evaluation (normal) or as high risk and suspected brain anomaly (abnormal). The normal group was subcategorized according to Cignini's CC length charts. Data of fetuses with a CC length between the 5th-95th percentile served for creating new charts, describing the ratio of the CC length to the major biometric parameters as a function of gestational age (GA)...
May 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#4
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29777898/a-survey-of-health-professionals-views-on-acceptable-gestational-age-and-termination-of-pregnancy-for-fetal-anomaly
#5
Lisa Crowe, Ruth H Graham, Stephen C Robson, Judith Rankin
Termination of pregnancy for fetal anomaly is legal in the UK with no upper limit, if two doctors, in good faith, agree "there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped". This is Clause E of the Human Fertlisation and Embryology Act. The most commonly sighted Clause is C, which states "the pregnancy has not exceeded its twenty-fourth week and that the continuance of the pregnancy would involve risk, greater than if the pregnancy were terminated, of injury to the physical or mental health of the pregnant woman"...
May 16, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29777883/atypical-presentation-of-giant-aneurysm-in-a-pediatric-patient-with-duane-syndrome
#6
Chao-Hung Kuo, Lynn B McGrath, Joseph A Carnevale, Neena I Marupudi, Jeffery G Ojemann, Richard G Ellenbogen, Anthony C Wang
BACKGROUND: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome, however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon. CASE DESCRIPTION: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome, and performed a review of the literatures to identify other potential cases and associations...
May 16, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#7
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29772318/endovascular-management-of-a-large-persistent-sciatic-artery-aneurysm
#8
Tazo Inui, Andrew Picel, Andrew Barleben, John S Lane
The persistent sciatic artery (PSA) is a remnant of the fetal circulatory system that is preserved in less than 0.1% of the population. Up to 60% of patients with this vascular anomaly will go on to development of a PSA aneurysm (PSAA), which can produce a variety of symptoms including neuropathy, claudication, and acute limb-threatening ischemia. Historical management is by open operation and interposition grafting, which can be highly morbid. We describe successful management of a large, symptomatic PSAA by endovascular stent-grafting with intermediate term follow-up...
May 14, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29770755/body-composition-during-early-infancy-and-developmental-progression-from-1-to-5-years-of-age-the-infant-anthropometry-and-body-composition-iabc-cohort-study-among-ethiopian-children
#9
Mubarek Abera, Markos Tesfaye, Bitiya Admassu, Charlotte Hanlon, Christian Ritz, Rasmus Wibaek, Kim F Michaelsen, Henrik Friis, Jonathan C Wells, Gregers S Andersen, Tsinuel Girma, Pernille Kæstel
Early nutrition and growth have been found to be important early exposures for later development. Studies of crude growth in terms of weight and length/height, however, cannot elucidate how body composition (BC) might mediate associations between nutrition and later development. In this study, we aimed to examine the relation between fat mass (FM) or fat-free mass (FFM) tissues at birth and their accretion during early infancy, and later developmental progression. In a birth cohort from Ethiopia, 455 children who have BC measurement at birth and 416 who have standardised rate of BC growth during infancy were followed up for outcome variable, and were included in the statistical analysis...
June 2018: British Journal of Nutrition
https://www.readbyqxmd.com/read/29770109/fetoscopic-endoluminal-tracheal-occlusion-and-reestablishment-of-fetal-airways-for-congenital-diaphragmatic-hernia
#10
Lennart Van der Veeken, Francesca Maria Russo, Luc De Catte, Eduard Gratacos, Alexandra Benachi, Yves Ville, Kypros Nicolaides, Christoph Berg, Glenn Gardener, Nicola Persico, Pietro Bagolan, Greg Ryan, Michael A Belfort, Jan Deprest
Background: Congenital diaphragmatic hernia (CDH) is a congenital anomaly with high mortality and morbidity mainly due to pulmonary hypoplasia and hypertension. Temporary fetal tracheal occlusion to promote prenatal lung growth may improve survival. Entrapment of lung fluid stretches the airways, leading to lung growth. Methods: Fetal endoluminal tracheal occlusion (FETO) is performed by percutaneous sono-endoscopic insertion of a balloon developed for interventional radiology...
2018: Gynecological Surgery
https://www.readbyqxmd.com/read/29770094/travel-related-zika-virus-cases-in-canada-october-2015-june-2017
#11
J Tataryn, L Vrbova, M Drebot, H Wood, E Payne, S Connors, J Geduld, M German, K Khan, P A Buck
Background: Zika virus (ZIKV) is an emerging mosquito-borne disease that can cause severe birth defects if contracted congenitally. Since late 2015, there has been a large increase in the number of travel-related cases of Zika virus infection in Canada. Objective: The objective of this study was to describe the epidemiology of travel-related Zika cases in Canada from October 2015 to June 2017 and review them in the context of the international outbreak in the Americas...
January 4, 2018: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29769050/why-do-patients-decline-amniocentesis-analysis-of-factors-influencing-the-decision-to-refuse-invasive-prenatal-testing
#12
Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29768533/investigation-of-the-effect-of-gestational-diabetes-on-fetal-cardiac-tissue-in-streptozotocin-%C3%A4-nduced-in-rats
#13
Ugur Turhan, Ercan Yilmaz, Mehmet Gul, Rauf Melekoglu, Yusuf Turkoz, Fatma Ozyalin, Hakan Parlakpinar, Yavuz Simsek
PURPOSE: To investigate the cause of congenital anomalies resulted from gestational diabetes on fetal cardiac tissue in experimental animal study model. METHODS: Totally 12 female Wistar albino rats were divided into two groups, each consisting of 6 rats. Streptozotocin (60 mg/kg) was administered intraperitoneally to the study group by dissolving in citrate solution. The rats with a blood glucose level of 200 mg/dL and above were considered to be diabetic rats...
April 2018: Acta Cirúrgica Brasileira
https://www.readbyqxmd.com/read/29763964/incidental-fetal-ultrasound-findings-interpretation-and-management
#14
Rebekah Kaplan, Sharon Adams
Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Most ultrasound examinations are reassuring, but some incidentally identify structural anomalies and soft markers for aneuploidy, making it necessary for health care providers to correctly interpret these findings...
May 15, 2018: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29756160/fetal-and-postnatal-echocardiographic-diagnosis-of-ebstein-anomaly-of-the-mitral-valve
#15
Safwat Aly, John Bokowski, Karim Diab, Brie Ann Muller
Ebstein anomaly of mitral valve (MV) is an extremely rare congenital heart disease. In the current report, we present a case of Ebstein of MV that was diagnosed prenatally. Fetal echocardiogram showed that the posterior leaflet of MV was tethered to the lateral wall of left ventricle (LV) with downward displacement into LV cavity. Postnatal transthoracic and transesophageal echocardiograms confirmed the diagnosis with apical displacement of the level of coaptation MV into the LV cavity. To the best of our knowledge, fetal diagnosis of Ebstein anomaly of MV has not yet been reported in the medical literature...
May 14, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29753922/beckwith-wiedemann-syndrome-a-population-based-study-on-prevalence-prenatal-diagnosis-associated-anomalies-and-survival-in-europe
#16
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bielenska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K Morris
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753919/epidemiology-of-orofacial-clefts-in-a-danish-county-over-35-years-before-and-after-implementation-of-a-prenatal-screening-programme-for-congenital-anomalies
#17
Eva Berenth Paaske, Ester Garne
In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29747884/perinatal-care-of-infants-with-congenital-birth-defects
#18
REVIEW
Elizabeth K Sewell, Sarah Keene
Prenatal diagnosis has changed perinatal medicine dramatically, allowing for additional fetal monitoring, referral and counseling, delivery planning, the option of fetal intervention, and targeted postnatal management. Teams participating in the delivery room care of infants with known anomalies should be knowledgeable about specific needs and expectations but also ready for unexpected complications. A small number of neonates will need rapid access to postnatal interventions, such as surgery, but most can be stabilized with appropriate neonatal care...
June 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29744644/an-epigenetic-association-of-malformations-adverse-reproductive-outcomes-and-fetal-origins
#19
Mark Lubinsky
VACTERL, the prototype for associated congenital anomalies, also has connections with functional issues such as pregnancy losses, prematurity, growth delays, perinatal difficulties, and parental subfertility. This segues into a broader association with similar connections even in the absence of malformations. DNA methylation disturbances in the ovum are a likely cause, with epigenetic links to individual components and to folate effects before conception, explaining diverse fetal and placental findings and providing a link to fetal origin hypothesis-related effects...
May 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29740927/are-singleton-pregnancies-after-assisted-reproduction-technology-art-associated-with-a-higher-risk-of-placental-anomalies-compared-with-non-art-singleton-pregnancies-a-systematic-review-and-meta-analysis
#20
REVIEW
B G Vermey, A Buchanan, G M Chambers, E M Kolibianakis, J Bosdou, M G Chapman, C A Venetis
BACKGROUND: Placental anomalies (placenta praevia, placental abruption, morbidly adherent placenta and cord insertion anomalies) are associated with maternal and fetal morbidity and mortality. It has been suggested these might be more prevalent in pregnancies after assisted reproduction technology (ART). OBJECTIVES: To determine whether ART singleton pregnancies are associated with an increased risk of placental anomalies compared with non-ART singleton pregnancies...
May 8, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
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