Molecular analysis of fetal nucleic acids for prenatal investigations
Prenatal investigations are an integral part of modern obstetrics care. Major advances in molecular genetics have led to the development of services, such as genetic counselling, prenatal and preimplantation diagnosis, that cater for the investigation of fetal genetic and chromosomal abnormalities. In recent years, extra demands have been placed on these services as a result of the emerging sociocultural trend to delay childbirth and to maintain smaller family units. However, current prenatal investigative programmes rely on fetal tissue sampling procedures such as amniocentesis and chorionic villus sampling for the provision of a confirmatory diagnosis. By virtue of their invasive nature, these procedures are associated with a risk of spontaneous abortion. Hence, there have been ongoing efforts to develop safer alternatives to conventional prenatal diagnostic procedures. This thesis focuses on the development of molecular approaches and protocols which facilitate the implementation of safer alternatives to the prenatal diagnostic methods in current clinical use. The recent discovery of the existence of fetal nucleic acids in plasma and serum of pregnant women has led to new exciting possibilities for the development of non-invasive prenatal diagnostic approaches. Hence, studies described in this thesis examine methods and protocols that would enhance the application of circulating fetal DNA detection for pregnancy monitoring or prenatal diagnosis. During the course of this work, a number of traditionally perceived challenges to circulating fetal nucleic acid analysis have been overcome. Lastly, the potential impact and implications of the work in this thesis are discussed and speculated.
0541: Biomedical research