Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis

摘要

The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include analysis of the fragment size distribution of cell-free fetal DNA isolated from amniotic fluid. The inventive methods allow for rapid screening of fetal characteristics such as chromosomal abnormalities and for prenatal diagnosis of a variety of diseases and conditions. Since the new methods do not require cell culture, they can be performed more rapidly than conventional fetal karyotypes.