Search for dissertations about: "fetal karyotype"

Found 5 swedish dissertations containing the words fetal karyotype.

2. 1. 12-14 week scan with emphasis on risk assessment for fetal structural malformations and fetal loss

   Author : Maria-Dorothea Westin; gynekologisk och prenatal ultraljudsdiagnostik Obstetrisk; []
   Keywords : 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;

   Abstract : 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. READ MORE

4. 2. Spontaneous abortion : risk factors and measurement of exposures

   Author : Lena George; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Case-control study; caffeine; cotinine; environmental tobacco smoke; epidemiology; fetal karyotype; folate; maternal smoking; pregnancy; repeated spontaneous abortion; risk assessment; smoking cessation; spontaneous abortion; validation study;

   Abstract : The overall objectives of this thesis were to increase the understanding of the etiology of spontaneous abortion and repeated spontaneous abortion, and to evaluate possibilities of exposure assessment during pregnancy. Data from a Swedish population-based case-control study of spontaneous abortion, performed in Uppsala County 1996-98, formed the base for the three first studies of the thesis. READ MORE

5. 3. Counting molecules in cell-free DNA and single cells RNA

   Author : Kasper Karlsson; Karolinska Institutet; Karolinska Institutet; []
   Keywords : UMI;

   Abstract : The field of Molecular Biology got started in earnest with the discovery of the molecular structure of DNA. This lead to a surge of interest into the relationships between DNA, RNA and proteins, and to the development of fundamental tools for manipulating those substances, such as cutting, ligating, amplifying, visualizing and size-selecting DNA. READ MORE

6. 4. Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome

   Author : Evaldas Laurencikas; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Metacarpophalangeal pattern profile MCPP ; hypochondroplasia; Leri-Weill dyschondrosteosis; Turner syndrome; Discriminant analysis; short stature.;

   Abstract : The skeletal system, including the hand skeleton, is affected by a large number of skeletal dysplasias. Clinical and radiological abnormalities of the skeletal system in hypochondroplasia (HCP), dyschondrosteosis (LWD) and Turner syndrome (TS) may be rather subtle and difficult to recognize, particularly in young individuals, which can lead to an unnecessary delay of the diagnosis. READ MORE

7. 5. Clinical and molecular genetic characterization of congenital malformations

   Author : Johanna Winberg; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. READ MORE