Non-invasive prenatal testing for chromosomal aneuploidies

Abstract

The aim of this literature review is to give an overview of the conventional screening methods currently utilized for prenatal detection of chromosomal abnormalities and the development of non-invasive prenatal testing (NIPT) starting with the original discovery by Dennis Lo. The review will also try to summarize the different methods of cff-DNA based NIPTs for chromosomal aneuploidies (trisomy 21, 18 and 13) in the context of clinical experiences, efficacy, cost, ethics and limitations.