Sökning: "prenatal diagnosis"

Visar resultat 6 - 10 av 54 avhandlingar innehållade orden prenatal diagnosis.

  1. 6. New molecular tools for prenatal diagnosis

    Författare :Ellika Sahlin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified. The studies included in this thesis have taken advantage of the dramatic progress in medical genetics, in order to develop and evaluate new procedures to diagnose genetic disorders in fetal life. LÄS MER

  2. 7. To Grasp the Unexpected : Information Following a Prenatal Diagnosis of Congenital Heart Defect in the Fetus

    Författare :Tommy Carlsson; Elisabet Mattsson; Gunnar Bergman; Barbro Wadensten; Susanne Georgsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Congenital Heart Defects; Consumer Health Information; Internet; Popular Works; Prenatal Diagnosis; Website Quality; Caring Sciences; Vårdvetenskap; Medicinsk vetenskap; Medical Science;

    Sammanfattning : The aim was to explore experiences and needs of information following a prenatal diagnosis of congenital heart defect, and to assess the quality of publicly available information websites about congenital heart defects. Study I was a qualitative interview study that explored experiences among 11 parents to prenatally diagnosed children. LÄS MER

  3. 8. Prenatal diagnosis of structural malformations and chromosome anomalies : Detection, influence of Body Mass Index and ways to improve screening

    Författare :Eric Hildebrand; Marie Blomberg; Tomas Gottvall; Jan Brynhildsen; Ove Axelsson; Linköpings universitet; []
    Nyckelord :;

    Sammanfattning : Introduction: Prenatal diagnosis of structural malformations and chromosome anomalies is possible in the presence of an effective screening with ultrasound during pregnancy. The continuous evolution of the ultrasound equipment facilitates the examination. LÄS MER

  4. 9. 12-14 week scan with emphasis on risk assessment for fetal structural malformations and fetal loss

    Författare :Maria-Dorothea Westin; gynekologisk och prenatal ultraljudsdiagnostik Obstetrisk; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Obstetrik; gynekologi; andrologi; reproduktion; sexualitet; reproduction; sexuality; Obstetrics; gynaecology; andrology; Miscarriage; Malformation; Congenital cardiac defect; Nuchal translucency; Prenatal diagnosis; Medicin människa och djur ; Medicine human and vertebrates ; Risk assessment;

    Sammanfattning : The aim was to evaluate first trimester nuchal translucency (NT) measurement for detection and risk assessment of fetal malformations and fetal loss. 39 572 pregnant women were randomised to either a routine ultrasound scan at 12-14 weeks including NT measurement or to a routine scan at 18-20 weeks. LÄS MER

  5. 10. Prenatal diagnosis in routine antenatal care : a randomised controlled trial

    Författare :Sissel Saltvedt; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Ultrasound; fetal ultrasonography; Down s syndrome; chromosomal disorder; nuchal translucency; genetic screening; prenatal diagnosis; abnormalities; gestational age; in vitro fertilization; fetometry; dating formulas; false positive reactions; anxiety;

    Sammanfattning : Nuchal translucency (NT) measurement combined with maternal age has been shown to identify women at an increased risk of carrying a fetus with Down's syndrome (DS) more accurately than does maternal age alone. The aim of this study was to evaluate more widely the effects of two different strategies for prenatal diagnosis. LÄS MER