congenital anomalies

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  • 文章类型: Journal Article
    欧洲儿科放射学学会关于胃肠道和泌尿生殖系统成像的共识文章旨在标准化患有性发育障碍的新生儿的成像方法。这些新生儿代表了困难和压力的情况,需要多学科团队方法。成像在后处理中起着重要作用,但需要针对患者进行优化和定制。超声在评估生殖器解剖结构中起着核心作用。检查必须以详细和系统的方式进行。它必须包括具有适应的高分辨率换能器的经腹和经会阴入路。盆腔,生殖器褶皱,必须评估腹股沟区域和肾上腺以及腹腔的其余部分。提出了报告模板。讨论了磁共振成像以及膀胱和生殖器造影的适应症,以及它们可能提供的其他信息。必须尽可能使用中立的措辞谨慎地报告成像结果。
    This consensus article elaborated by the European Society for Paediatric Radiology task force on gastrointestinal and genitourinary imaging is intended to standardize the imaging approach in newborns with disorders of sex development. These newborns represent a difficult and stressful situation necessitating a multidisciplinary team approach. Imaging plays an important role in the work-up but needs to be optimized and customized to the patient. Ultrasound plays the central role in assessing the genital anatomy. The examination must be conducted in a detailed and systematic way. It must include transabdominal and transperineal approaches with adapted high-resolution transducers. The pelvic cavity, the genital folds, the inguinal areas and the adrenals must be evaluated as well as the rest of the abdominal cavity. A reporting template is proposed. The indications of magnetic resonance imaging and cysto- and genitography are discussed as well as they may provide additional information. Imaging findings must be reported cautiously using neutral wording as much as possible.
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  • 文章类型: Journal Article
    The antithyroid drugs, Carbimazole, Methimazole, and Propylthiouracil remain the mainstay of Graves\' disease management in pregnancy. A series of Clinical Practice Guidelines aimed at optimising fetal and maternal outcomes in women with Graves\' disease have been published in recent years. Areas covered: This review examines existing guideline recommendations on antithyroid drug management of Graves\' disease in pregnancy. Expert commentary: Recent guidelines have been shaped by expanding knowledge of the adverse effect profiles of antithyroid drugs on the developing fetus. A core management strategy is to limit fetal exposure to excess thyroid hormones and to curtail adverse drug effects through effective preconception and peri-conception management. Propylthiouracil is the recommended treatment in the first trimester of pregnancy but there is uncertainty regarding antithyroid drug choices in women who continue to require treatment in later pregnancy. Further studies are needed to fully evaluate the risks of congenital anomalies following intrauterine thionamide exposure.
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  • 文章类型: Journal Article
    OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening.
    UNASSIGNED: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists.
    METHODS: All pregnant women receiving counselling and providing informed consent for prenatal screening.
    METHODS: Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to March 2016 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to May 2016. Searches were updated on a regular basis and incorporated in the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies.
    UNASSIGNED: Evidence will be reviewed 5 years after publication to determine whether all or part of the guideline should be updated. However, if important new evidence is published prior to the 5-year cycle, the review process may be accelerated for a more rapid update of some recommendations.
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  • 文章类型: Journal Article
    BACKGROUND: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the \"embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb\", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law.
    METHODS: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it.
    RESULTS: It was agreed not to use the term \"incompatible with life outside the womb\", as there are exceptions and longer survivals, and change to \"congenital anomaly of poor prognosis (CAPP)\". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, \"limb body wall\" complex, \"body stalk\" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP.
    CONCLUSIONS: A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing.
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