Sökning: "genetic counselling"

Visar resultat 1 - 5 av 32 avhandlingar innehållade orden genetic counselling.

  1. 1. Genetic Information - Values and Rights. The morality of presymptomatic genetic testing

    Författare :Niklas Juth; Göteborgs universitet; []
    Nyckelord :HUMANIORA; HUMANITIES; morality; biomedical ethics; genetic information; genetic testing; presymptomatic; values; rights; autonomy; well-being; justice; genetic counselling; Kantian ethics; authenticity; privacy; confidentiality; insurance;

    Sammanfattning : The focal point of this dissertation is the question of the value of and right to genetic information from presymptomatic genetic testing that may reveal risk of disease. This question is discussed regarding first parties, that is, the person on whom the test is performed, second parties, that is, blood relatives’ of first parties, and third parties, such as insurance companies and employers. LÄS MER

  3. 2. Improving Access and Quality of Genetic Counselling in Clinical Care in Sweden : The Value of eHealth Solutions and a Validated Outcome Measure

    Författare :Rebecka A. Pestoff; Cecilia Gunnarsson; Peter Johansson; Cathrine Bjørvatn; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetic counselling; Empowerment; Outcome measures; eHealth; Implementation;

    Sammanfattning : Genetic counselling is increasingly important for investigations into hereditary diseases in the field of clinical genetics. The increase in demand is due to the discovery of more genetically caused diseases, increased complexity and awareness of genetic testing. LÄS MER

  4. 3. “It is better to have tried, no matter what” : Psychological perspectives on pre-implantation genetic diagnosis (PGD)

    Författare :Stina Järvholm; Göteborgs universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Pre-implantation Genetic Diagnosis PGD ; Decision-making; Men and Women; Risk Factors; Depression; Anxiety; Marital Relationship; Counselling;

    Sammanfattning : Couples with the risk of transmitting a genetic disease face different diagnostic options when they wish to become parents. Pre-implantation genetic diagnosis (PGD) combines in vitro fertilization (IVF) with biopsy of the embryo. With PGD the couple can start a pregnancy knowing that the child will not be affected by the particular disease. LÄS MER

  5. 4. Genetic and epidemiological aspects of implantation defects : Studies on recurrent miscarriage, preeclampsia and oocyte donation

    Författare :Evangelia Elenis; Agneta Skoog Svanberg; Alkistis Skalkidou; Gunilla Sydsjö; Helena Åkerud; Anja Pinborg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Angiogenesis; genetic polymorphism; gestational hypertensive disorders; Histidine-rich glycoprotein; HRG; implantation defect; oocyte donation; placentation; preeclampsia; recurrent miscarriage; SNP.; Obstetrik och gynekologi; Obstetrics and Gynaecology;

    Sammanfattning : Implantation requires complex molecular and cellular events involving coagulation, angiogenesis and immunological processes that need to be well regulated for a pregnancy to establish and progress normally.  The overall aim of this thesis was to study different models associated with atypical angiogenesis, impaired implantation and/or placentation, such as recurrent miscarriage (RM), oocyte donation (OD) and preeclampsia. LÄS MER

  7. 5. Genetic studies of neurodevelopmental disorders

    Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. LÄS MER