Noninvasive prenatal detection of genetic defects

Oever, Jessica Maria Elisabeth van den (2016)

Doctoral Thesis

Current prenatal diagnostics is mainly based on obtaining fetal DNA through invasive procedures such as chorionic villi sampling (CVS) or amniocentesis. These procedures are associated with a small, but significant risk of fetal loss. The discovery of the presence of cell-free fetal DNA (cffDNA) in maternal plasma opened possibilities for less of noninvasive alternative procedures. CffDNA is comprised of small fragments of fetal extracellular DNA derived from placental cells that go into apoptosis and can be detected already early in gestation. However, the majority of total cell-free DNA in maternal plasma is of maternal origin and the fetal contribution in the first trimester is relatively small. In this thesis, we describe novel applications and approaches for the use of cffDNA in noninvasive prenatal testing and diagnostics for a wide variaty of genetics defects such as fetal trisomy 21 (Down syndrome), hereditary breast cancer mutation detection and noninvasive detection of the expanded CAG repeat in Huntington disease.

• Repeat expansion
• Mutation
• Trisomy
• Prenatal
• Plasma
• Noninvasive
• NIPD
• NIPT
• cffDNA

• All authors: Oever, Jessica Maria Elisabeth van den
• Supervisor: Bakker, E.
• Co-supervisor: Boon, E.M.J.
• Qualification: Doctor (dr.)
• Awarding Institution: Department of Clinical Genetics, Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2016-02-03
• ISBN (print): 9789462954311