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Showing 1 to 20 of 39 for “"Prenatal diagnosis"”.
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Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia
… will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders. The tests that have been offered to date are available because of technology, not because of the burden or prevalence of the condition. Parents' attitudes to different genetic …
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Termination Rates Following Prenatal Diagnosis For Down Syndrome: A Systematic Review
… genetic cause of intellectual disability. Two prenatal testing approaches for Down syndrome are available: screening tests and diagnostic tests. Screening tests are non-invasive but are non-diagnostic and provide an estimate of the risk of an affected pregnancy. Even with recent improvements in …
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I carry you in my heart : facing an incurable prenatal diagnosis
Prenatal diagnosis has given doctors the ability to predict problems before a child is even born. But what happens when the information gleaned from these tests is that the child is fatally sick? Doctors call these "futile" pregnancies. The increasing sophistication and prevalence of prenatal …
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A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis
Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007). Traditionally testing has been carried out during pregnancy (prenatal diagnosis, PND). However, advances in technology have made it …
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Attitudes to ward and Utilization of Non-Invasive Prenatal Testing For Chromosome Aneuploidy Among Ob/Gyns
<p>Prenatal diagnosis is traditionally made via invasive procedures such as amniocentesis and chorionic villus sampling (CVS). However, both procedures carry a risk of complications, including miscarriage. Many groups have spent years searching for a way to diagnose a chromosome aneuploidy without …
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Preimplantation diagnosis / Ke-hui Cui
… derived by IVF procedures prior to implantation. Prenatal diagnosis allows pregnancy to be established using only acceptable embryos
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Kenntnisse und Meinungen in der Bevölkerung zum Thema Pränataldiagnostik : eine Untersuchung der Einflüsse von demographischen und biographischen Faktoren
… among the population about certain aspects of prenatal diagnosis and selctive abortion. Important modifying factors in the demographic and biographic data of the persons questioned were to be identified. Among others the questionnaire contains 22 questions concerning knowledge about prenatal …
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ΠΡΟΓΕΝΝΗΤΙΚΗ ΔΙΑΓΝΩΣΗ Β-ΜΕΣΟΓΕΙΑΚΗΣ ΑΝΑΙΜΙΑΣ (COOLEY). ΜΕΛΕΤΗ ΤΩΝ ΑΝΑΛΟΓΙΩΝ ΤΩΝ ΓΛΟΒΙΝΙΚΩΝ ΑΛΥΣΕΩΝ ΤΗΣ ΑΙΜΟΣΦΑΙΡΙΝΗΣ ΚΑΤΑ ΤΗΝ ΠΡΟΓΕΝΝΗΤΙΚΗ ΚΑΙ ΠΕΡΙΓΕΝΝΗΤΙΚΗ ΠΕΡΙΟΔΟ
PRENATAL DIAGNOSIS IN 105 SAMPLES OF FETAL BLOOD AGE OF PREGNANCY 17-25 WEEKS,WITH BOTH PARENTS BEING HETEROZYGOUS OF B-THALASSEMIA. DIAGNOSIS WAS ATTEMPTED BY USE OF THE B RATIOS OF GLOBIN CHAINS, SEPARATED BY Γ ELECTROPHORESIS. A STUDY ON THE SWITCH OF B- CΓ, AΓ, CHAINS DURING THE GESTATION. A …
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Next Generation Sequencing nell'analisi del DNA fetale da plasma materno per la diagnosi prenatale non invasiva di malattie genetiche
… common reasons that prompt couples to opt for prenatal diagnosis (PD). Unfortunately, current procedures of prenatal diagnosis are invasive and carry a 0.5-1% risk of fetal mortality. The discovery of fetal DNA in maternal plasma had opened new opportunities for non invasive diagnosis and to …
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ΜΕΛΕΤΗ ΠΑΡΑΛΛΑΓΩΝ ΚΑΙ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ ΑΙΜΟΡΡΟΦΙΛΙΑΣ Β ΣΤΗΝ ΕΛΛΑΔΑ
… EVALUATION OF THE DEFECT AT THE MOLECULAR LEVEL. PRENATAL DIAGNOSIS WAS PERFORMED IN 4 CASES WITH DETERMINATION OF FIX IN EMBRYONIC BLOOD. MOREOVER 37 HAEMOPHILIA 3 PATIENTS ARE CLASSIFIED ACCORDING TO SEVERITY, DEVELOPMENT OF INHIBITORS AND ANTIGENIC DETERMINANTS.
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Sviluppo di una piattaforma per la diagnosi prenatale non invasiva di malattie genetiche in epoca gestazionale precoce
Prenatal diagnosis of aneuploidies and monogenic diseases is usually performed by amniocentesis or chorionic villous sampling. However, these procedures are associated with 0.5%-2% risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal plasma in 1997 has provided a new …
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Diagnosi molecolare della Distrofia Muscolare di Duchenne e della Neurofibromatosi tipo 1 con la tecnologia di sequenziamento Next Generation
… spectrum is necessary for genetic counselling, prenatal diagnosis and selecting the patients eligible for future mutation-‐specific treatments. Identification of the DMD and NF1 point mutations, that account for approximately 30% of DMD and 90% of NF1, cannot be achieved easily because these …
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Epidemiological, Environmental, and Biological Risk Factors for Gastroschisis
… migration rates. Results identified changing prenatal characteristics and potential relationships with environmental hazards, which future studies will continue investigating. Continued research can aid in improved prenatal diagnosis and better clinical outcomes for the mother and baby.</p>
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Optimisation of interphase fluorescence in situ hybridisation for detection of common aneuploidies
… practical method of interphase FISH which allows prenatal diagnosis of major chromosome aneuploidies using a minimum volume of amniotic fluid sample was the overall objective of this study. When all the probes required were available, the study continued by developing the technique of ratio-mixing …
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Women’s decision making process regarding prenatal diagnostic testing
… account the latest emergence of a Noninvasive Prenatal Testing, NIPT, the primary goal of this study was to explore factors that influence women’s decision to have an invasive, a non-invasive or no further testing at all. Design and sample: The Prenatal Decision Making Questionnaire (PDMQ) …
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Mutationsanalyse der Exone 26 bis 52 des PKHD1-Gens bei der Autosomal Rezessiv erblichen Polyzystischen Nierenerkrankung (ARPKD)
… the basis for direct mutation testing in prenatal diagnosis. However, mutation analysis in ARPKD poses special difficulties due to the huge size of the gene, multiple predicted splice variants and marked allelic heterogeneity.
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Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung
… ranges from intrauterine manifestation with prenatal demise to survival into adulthood. The very severe course of disease and the statistic risk of 25% for any newborn in affected families points out that reliable prenatal diagnosis is an important element of genetic counseling in this …
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Clinical implementation of first trimester combined test for aneuploidies in patients aged 35 years or older
… baby relates directly to maternal age. Invasive prenatal diagnosis based on advanced maternal age (AMA) alone is still a large contributor to invasive testing (amniocentesis and villocentesis). However, there are many reasons to abandon screening on the basis of AMA, given its low detection rate …
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Diagnosi prenatale non invasiva di malattie monogeniche attraverso la ricerca e l'isolamento di cellule e DNA fetale nel sangue materno
Prenatal genetic diagnosis of monogenic diseases and chromosomal abnormalities is usually performed collecting fetal samples through villocentesis or amniocentesis. These invasive procedures are associated with 0.5-1% risk for the fetus. Due to it, in recent years, much effort has been made to …
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Investigating the views and experiences of Fetal Medicine Practitioners offering late termination of pregnancy in the Western Cape
… based on their assessment of the severity of the prenatal diagnosis while also taking into account the practical, legal and ethical aspects. This study aimed to investigate the views and experiences of FMPs involved in LTOP decision-making in the Western Cape and how these views may guide …
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