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La fente oro-faciale est la malformation crânio-faciale la plus commune identifiée chez le nouveau-né. Cette pathologie existe sous différentes formes: fente labiale isolée, fente labio alvéolaire, fente labio-alvéolo-palatine ou encore fente palatine isolée. Les différents types de fentes peuvent survenir dans le cadre d'un syndrome impliquant de multiples autres organes ou exister comme une malformation isolée. Vu la panoplie de complications que rencontre un enfant atteint d'un defect labio-palatin, la prise en charge optimale devra être multidisciplinaire afin de résoudre les impacts de la pathologie lors des différentes périodes de la vie de l'enfant.Le but de ce mémoire de recherche clinique est de déterminer s'il existe une corrélation entre le diagnostic posé in utero et le diagnostic posé à la naissance et a analysé le protocole de diagnostic anténatal des fentes labio-palatines instauré aux Cliniques universitaires Saint-Luc depuis janvier 2013. Un diagnostic correctement posé permettra de fournir aux parents un discours le plus fiable possible afin de les préparer au mieux à faire face à la pathologie et également de prévoir la prise en charge chirurgicale et globale du nourrisson. La population de notre étude concerne des femmes enceintes suivies ou référées aux Cliniques universitaires Saint-Luc où une échographie morphologique a été réalisée et qui a permis, via le nouveau protocole, de préciser le diagnostic de fente ara-faciale chez le fœtus. L'étude concerne 61 couples mère-enfant. Parmi ces 61 couples répertoriés, 51 protocoles ont diagnostiqué précisément en anténatal le type de fente ara-faciale dont l'enfant est porteur. Cela correspond à une exactitude de 83,61 %. On compte 8 fentes labiales (lS,69%), 12 fentes labio alvéolaires (23,53%) et 31 fentes labio-alvéolo-palatines (60,78%). Chez 51 des nouveau-nés, 6 sont nés avec une anomalie associée. Notre échantillonnage montre 2 cas de diagnostic de fente palatine qui sont des faux positifs et 3 cas de fente palatine qui sont des faux négatifs.Toutefois, nous remarquons que sur nos 61 couples mère-enfant, 1seul diagnostic anténatal de fente ara-facial est un faux positif et 1seul est une faux négatif. De plus, aucun des 51 enfants constituant notre étude n'a présenté ni en anténatal ni en postnatal une rétro-micrognathie et/ou une atrésie/sténose des choanes. Cependant, notre faux négatif correspond à une séquence de Pierre Robin et présente donc un rétro-micrognathisme. Nous constatons donc une forte corrélation des diagnostics postnataux avec les diagnostics anténataux et estimons important de l'établir à plus grande échelle dans l'intérêt des nouveaux nés et de leurs parents afin de leur assurer une prise en charge globale optimale. The oro-facial cleft is the most common craniofacial malformation identified in the newborn. This pathology exist in various forms: isolated cleft lip, cleft of the lip and the alveolus, cleft of the lip, alveolus and palate or isolated palatal defect. The different types of cleft can occur as part of a syndrome involving multiple organs or exist as an isolated malformation. Given the plethora of complications experienced by a child with an oro-facial cleft, optimal care should be multidisciplinary in order to resolve the impact of the pathology during the different periods of the child's life. The purpose of this clinical research paper is to determine if there is a correlation between the diagnosis posed in utero and the diagnosis made at birth and analyzed the protocol of prenatal diagnosis of the oro-facial clefts established at the Saint-Luc's university Clinics since January 2013. A correct diagnosis will provide ta the parents the most reliable speech in order to prepare them best ta cape with the pathology and ta provide the best surgical and global care ta the newborn. The population of our study concerns pregnant women whose ultrasound was performed at Saint-Luc's university Clinics and that, through the new protocol, allowed to diagnose an oro-facial cleft in the fetus. The study concerns 61 mother-child couples. Among these 61 couples listed, 51 protocols accurately diagnosed the type of ora-facial cleft the child suffers from. This corresponds to an accuracy of 83.61%. There are 8 clefts lips (15.69%), 12 cleft of the lip and alveolus combined (23.53%) and 31 clefts of the lip, alveolus and palate (60.78%). ln 51 of the children, 6 were barn with an associated abnormality. Our sampling shows 2 cases of cleft palate diagnosis that are false positives and 3 cases of cleft palate which are false negatives. However, we note that in our 61 mother-child pairs, only 1 antenatal diagnosis of oro-facial cleft is a false positive and only 1is a false negative. ln addition, none of the 51 children in our study presented in antenatal or in postnatal a retro-micrognathia and / or atresia / choanal stenosis. However, our false negative corresponds to Pierre Robin sequence and therefore presents a retro-micrognathia. ln conclusion, we notice that a strong correlation between the postnatal and antenatal diagnoses exists and thus consider important to establish the new protocol of antenatal diagnosis of oro-facial cleft on a larger scale for the benefit of the newborns and the benefit of their parents. lt will ensure an optimal care of the child.
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"Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description.
Genetics --- Prenatal diagnosis. --- Diagnosis, Noninvasive. --- Genetic Testing. --- Prenatal Diagnosis. --- DNA --- blood.
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Fetus --- Prenatal diagnosis --- Abnormalities, Human --- Abnormalities. --- Diseases --- Diagnosis. --- Abnormities and deformities --- Diseases. --- Embryopathies --- Pregnancy --- Complications
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Since the late nineteenth century, medicine has sought to foster the birth of healthy children by attending to the bodies of pregnant women, through what we have come to call prenatal care. Women, and not their unborn children, were the initial focus of that medical attention, but prenatal diagnosis in its present form, which couples scrutiny of the fetus with the option to terminate pregnancy, came into being in the early 1970s. Tangled Diagnoses examines the multiple consequences of the widespread diffusion of this medical innovation. Prenatal testing, Ilana Löwy argues, has become mainly a risk-management technology-the goal of which is to prevent inborn impairments, ideally through the development of efficient therapies but in practice mainly through the prevention of the birth of children with such impairments. Using scholarship, interviews, and direct observation in France and Brazil of two groups of professionals who play an especially important role in the production of knowledge about fetal development-fetopathologists and clinical geneticists-to expose the real-life dilemmas prenatal testing creates, this book will be of interest to anyone concerned with the sociopolitical conditions of biomedical innovation, the politics of women's bodies, disability, and the ethics of modern medicine.
Prenatal diagnosis. --- Fetus --- Diseases --- Diagnosis. --- Brazil. --- France. --- amniocentesis. --- disability. --- obstetrical ultrasound.
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Quatrième de couverture : "Le deuxième tome de cet ouvrage consacré à l'échographie obstétricale est dédié à la morphologie normale et anormale du foetus, abordée à tous les trimestres de la grossesse, y compris au premier trimestre. Il est le fruit d'une longue expérience de praticiens référents, rompus au diagnostic anténatal et à la pratique de la médecine foetale. Les étudiants du DIU, comme les praticiens en exercice soucieux de parfaire leurs connaissances, y trouveront : Une très riche iconographie échographique réalisée en faisant appel aux techniques les plus avancées : sondes à hautes fréquences, voie vaginale, mode volumique... Un texte clair complété par une bibliographie détaillée. Un chapitre original consacré à l'illustration et à la description des principaux syndromes auxquels l'échographiste peut être confronté. L'ouvrage est par ailleurs assorti d'un lien permettant de consulter plus de 200 vidéos didactiques. Nous vous souhaitons une bonne lecture."
Ultrasonography, Prenatal --- Prenatal Diagnosis --- Pregnancy, High-Risk --- Fetus --- physiopathology --- Ultrasonics in obstetrics --- Pregnancy --- Ultrasonic imaging --- Complications --- Diagnosis. --- Fetus - physiopathology
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"Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description.
Prenatal diagnosis. --- Diagnosis, Noninvasive. --- Genetic Testing. --- Prenatal Diagnosis. --- DNA --- blood. --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Prenatal Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Diagnostic tests, Noninvasive --- Noninvasive diagnosis --- Noninvasive diagnostic tests --- Function tests (Medicine) --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- diagnosis --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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Richly illustrated and comprehensive in scope, Obstetric Imaging, 2nd Edition, provides up-to-date, authoritative guidelines for more than 200 obstetric conditions and procedures, keeping you at the forefront of this fast-changing field. This highly regarded reference covers the extensive and ongoing advances in maternal and fetal imaging in a concise, newly streamlined format for quicker access to common and uncommon findings. Detailed, expert guidance, accompanied by superb, high-quality images, helps you make the most of new technologies and advances in obstetric imaging. -- Publisher
Congenital Abnormalities --- Fetus --- Prenatal Diagnosis. --- diagnostic imaging. --- abnormalities. --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Fetal --- Screening, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services
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Covering pertinent basic science and offering today's most authoritative guidance on clinical management, Fetal Medicine, 3rd Edition, is a must-have resource for obstetricians and other healthcare professionals involved in care of the fetus. An international team of expert contributors delivers the knowledge and background you need to effectively diagnose and treat fetal disorders - everything from prenatal screening and diagnostic tests to common and rare prenatal conditions, early pregnancy loss, ethical issues, and much more. Focuses on fetal medicine throughout, bringing you today's most reliable information in both basic science and clinical topics. Offers updated information from cover to cover, including new coverage of genetics, embryology, and clinical management. Features new self-assessment questions, new video clips, and new images throughout - for a total of nearly 1,000 photographs and line drawings, as well as more than 150 quick-reference tables. Details fast-changing developments in fetal medicine, including advances in ultrasound imaging, cytogenetics, molecular biology, and biochemistry. Helps you learn and retrieve complex information quickly thanks to succinct, highly structured text; key points at the beginning of each chapter; and concise chapter summaries. -- Publisher
Fetus --- Fetal monitoring. --- Prenatal diagnosis. --- Fetal Diseases --- Prenatal Diagnosis. --- Fetal Monitoring. --- Diseases. --- Physiology. --- Abnormalities. --- diagnosis. --- therapy. --- physiology. --- Monitoring, Fetal --- Fetal Monitorings --- Monitorings, Fetal --- Labor, Obstetric --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Assessment, Fetal --- Fetal assessment --- Fetal surveillance --- Surveillance, Fetal --- Patient monitoring --- Abnormalities, Human --- Embryopathies --- Pregnancy --- Monitoring --- Diseases --- Abnormities and deformities --- Complications --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal --- Perinatology
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