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Currently, screening for trisomy (21,18 and 13) in Norway is based on a combination of blood tests and ultrasound (CUB) offered to all pregnant women 38 years of age or older. If the combined screening test indicates high risk, genetic verification via an invasive diagnostic test is offered either through chorionic villus sampling or amniocentesis. Non-Invasive Prenatal Testing (NIPT) measures the underlying genetic pathology of trisomies directly by analyzing fetal genetic material in the maternal circulation (cell-free fetal DNA, cffDNA). Several commercial testing strategies are available using different sequencing techniques for screening of trisomy 21, 18 and 13. We summarize research of diagnostic test accuracy of NIPT. In addition, we analyze health economic implications and highlight ethical consequences related to the national introduction of NIPT for detection of trisomy in pregnant women. Based on the evidence it seems that: 1. NIPT is a more accurate test for detecting trisomy than the CUB that is in use in Norway today. 2. A program with NIPT as a secondary test after CUB will result in fewer invasive tests and be more expensive than the current screening in Norway. 3. A program with NIPT as a primary test instead of CUB will also result in fewer invasive tests, but will be more expensive than both the current screening and if NIPT is used as secondary screeningtest. 4. NIPT is a test that challenges the underlying rationale for why and how we as a community and health service want to organize the fetal diagnostic services in Norway.

Genetic screening. --- Prenatal diagnosis.

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X-linked recessive diseases are severe hereditary diseases that are manifested solely in males. If the mother is a carrier of an X-linked recessive disease, she can either have a healthy girl, a healthy girl who is a carrier like the mother, a healthy boy, or a boy that becomes ill with the X-linked disease. Current practice in Norway is that all pregnant women at increased risk of having a child with an X-linked recessive disease, are eligible for an invasive test (chorionic villus sampling or amniocentesis), without any determination of the fetal sex beforehand. Annually, 40-60 invasive tests are performed in this group of pregnant women in Norway. In non-invasive prenatal testing (NIPT), a blood sample of the pregnant woman is used to identify fetal sex. The method is based on the analysis of cell-free fetal DNA found in maternal blood early in pregnancy. The purpose of using NIPT for fetal sex determination is to avoid unnecessary invasive testing of pregnant women who carry a female fetus. We have summarized research findings on NIPT's diagnostic accuracy for fetal sex determination, as well as discussed clinical, health economic and ethical consequences related to NIPT used for fetal sex determination. Based on the findings: 1. Diagnostic accuracy of NIPT for fetal sex determination is very high. 2. Maternal blood samples taken in gestational week 7 or later provide more reliable results than blood samples taken before week 7. 3. Assuming 50 pregnant women are tested every year, 21 of these will avoid invasive testing. 4. Introduction of a program where NIPT is used in determination of fetal sex, will increase the annual total health care cost expendings by 197,000 Norwegian kroner.

Genetic screening. --- Prenatal diagnosis.

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Imagerie pour le diagnostic en pédiatrie. --- Imagerie pour le diagnostic en obstétrique. --- Diagnostic prénatal. --- Pediatric diagnostic imaging --- Prenatal diagnosis --- Diagnostic imaging --- Imagerie pour le diagnostic en pédiatrie --- Diagnostics prénatals --- Imagerie pour le diagnostic --- Diagnostic Imaging --- Prenatal Diagnosis --- Ultrasonography, Prenatal --- Fetal Diseases --- diagnosis --- Fetus --- Infant, Newborn --- Congenital Abnormalities --- Foetus --- Nouveau-nés --- Diagnostic prénatal --- abnormalities --- radiography --- abnormalities. --- diagnosis. --- radiography. --- Malformations --- Diagnostic --- Imagerie pour le diagnostic en pédiatrie. --- Imagerie pour le diagnostic en obstétrique. --- Diagnostic prénatal. --- Imagerie pour le diagnostic en pédiatrie --- Diagnostics prénatals --- Congenital Abnormalities. --- Prenatal Diagnosis. --- Diagnostic. --- Malformations -- Diagnostic. --- Malformations foetales --- Fetal Diseases - diagnosis

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Die dreidimensionale (3D) Ultraschalldiagnostik hat in den letzten Jahren die Geburtshilfe-Betreuung erobert, so dass heute mehr als die Hälfte der Kliniken und Praxen hierzulande ein 3D-fähiges Ultraschallgerät besitzen. Zunächst bekannt durch das "Baby-Facing", besitzt die 3D-Sonografie inzwischen jedoch ein viel größeres Potential in der Darstellung der verschiedenen Organe unter normalen und pathologischen Bedingungen. Dabei können viele Funktionen wie eine neu zu erlernende Software bedient werden. Dieses Werk versteht sich zum Einen als praktischer Leitfaden, um die vielen 3D-Funktionen zu erläutern. Zum Anderen soll es eine Hilfestellung liefern, die 3D-Sonografie im Rahmen einer gezielten vorgeburtlichen Diagnostik optimal anzuwenden. Die Autoren verfügen über 15 Jahre Erfahrungen auf dem Gebiet der 3D-Sonografie.

Prenatal diagnosis. --- Diagnostic ultrasonic imaging. --- Ultrasonic imaging. --- Three-dimensional imaging. --- 3-D imaging --- 3D imaging --- Three-dimensional imaging systems --- Three-dimensional imaging techniques --- Three-dimensional visualization --- Visualization, Three-dimensional --- Imaging systems --- Echography --- Imaging, Ultrasonic --- Sonography --- Ultrasonography --- Acoustic imaging --- Cross-sectional imaging --- Ultrasonics --- Diagnosis, Ultrasonic --- Diagnostic sonography --- Diagnostic ultrasonics --- Diagnostic ultrasonography --- Diagnostic ultrasound --- Medical diagnostic ultrasonic imaging --- Medical ultrasonography --- Ultrasonic diagnosis --- Ultrasonic diagnostic imaging --- Ultrasonic imaging --- Ultrasonic waves --- Diagnostic imaging --- Ultrasonics in medicine --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Diagnosis --- Obstetrics --- Diagnostic use

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Addressing the origin, current status, and future development of point-of-care diagnostics, and serving to integrate knowledge and tools from Analytical Chemistry, Bioengineering, Biomaterials, and Nanotechnology, this book focusses on addressing the collective and combined needs of industry and academia (including medical schools) to effectively conduct interdisciplinary research. In addition to summarizing and detailing developed diagnostic devices, this book will attempt to point out the possible future trends of development for point-of-care diagnostics using both scientifically based research and practical engineering needs with the aim to help novices comprehensively understand the development of point-of-care diagnostics. This includes demonstrating several common but critical principles and mechanisms used in point-of-care diagnostics that address practical needs (e.g., disease or healthcare monitoring) using two well-developed examples so far: 1) blood glucose meters (via electrochemistry); and, 2) pregnancy tests (via lateral flow assay). Readers of this book will come to fully comprehend how to develop point-of-care diagnostics devices, and will be inspired to contribute to a critical global cause – the development of inexpensive, effective, and portable in vitro diagnostics tools (for any purpose) that can be used either at home or in resource limited areas.

Diagnostic equipment industry. --- Prenatal care. --- Prenatal diagnosis. --- Health & Biological Sciences --- Biomedical Engineering --- Antenatal care --- Antenatal services --- Pre-natal care --- Pregnant women --- Antenatal diagnosis --- Intrauterine diagnosis --- Prenatal testing --- Care --- Maternal health services --- Preconception care --- Diagnosis --- Obstetrics --- Medical instruments and apparatus industry --- Biomedical engineering. --- Biotechnology. --- Biomedical Engineering and Bioengineering. --- Public Health. --- Chemical engineering --- Genetic engineering --- Clinical engineering --- Medical engineering --- Bioengineering --- Biophysics --- Engineering --- Medicine --- Public health. --- Community health --- Health services --- Hygiene, Public --- Hygiene, Social --- Public health services --- Public hygiene --- Social hygiene --- Health --- Human services --- Biosecurity --- Health literacy --- Medicine, Preventive --- National health services --- Sanitation