100 - Antenatal diagnosis of genetic diseases: present and future
Autor(s): M. Ferrari, S. Galbiati, L. Cremonesi
Issue: RIMeL - IJLaM, Vol. 6, N. 2, 2010 (MAF Servizi srl ed.)
Page(s): 100-104
Invasive prenatal diagnosis based on the analysis of fetal DNA extracted from chorioni villi or amniocytes has been performed during the last 30 years and since then a variety of diagnostic protocols for molecular characterization of causative mutations in genetic diseases have been developed. The recent identification of fetal DNA in maternal plasma made possible the application of alternative non invasive procedures which do not constitute a risk for the fetus. Fetal DNA in maternal plasma is in the presence of an excess of maternal DNA which makes particularly difficult to distinguish between fetal and maternal sequences also because most genetic diseases are caused by point mutations. This demands the use of highly sensitive, accurate and accessible methodologies which have the potential to be applied in the routine clinical service.
Key-words: Antenatal diagnosis, genetic diseases, fetal DNA, pregnancy.