title: [Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system].
abstract: Prenatal diagnosis is an important element of health care in pregnant women. Until now, prenatal testing of genetically determined diseases was invasive. Identification in maternal plasma of cell-free fetal nucleic acids (cffNA) has created new opportunities, and gave rise to genetic non-invasive prenatal diagnosis (NIPD). They are three leading trends in NIPD, depending on the clinical application: analysis of hereditary diseases, analysis of aneuploidy and study of maternal-fetal conflict. In case of hereditary diseases, application of NIPD is limited to autosomal dominant disorders where the mutation is carried on the paternal allelle. It refers to problems with distinguish fetal derived cell-free DNA from maternal cell-free DNA. The important issue for using NIPD techniques in practice is to develop appropriate law regulation. This is of particular importance in the non-medical applications, when the aim of testing could be e.g. selection of fetuses. The development of effective methods for the analysis of free fetal DNA present in the mother's bloodstream is a matter of few years and show the progress made in the fields of molecular biology and medicine. It seems that non-invasive testing for a wider range of genetic disorders is a only a question of time.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, sylwia.rzonca@imid.med.pl.
authors.forename: Sylwia Olimpia
authors.initials: SO
authors.lastname: Rzońca
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal