"Genomic analysis of cell-free fetal DNA for non-invasive prenatal testing"

Abstract

Prenatal assessment of fetal health is routinely offered throughout pregnancy to ensure that the most effective management can be provided to maintain fetal and maternal well-being. Currently, invasive testing such as amniocentesis and chorionic villi sampling is used for definitive diagnosis of fetal aneuploidy, which is associated with a 1% risk of iatrogenic fetal loss. For this reason, it was of great interest to discover non-invasive ways of obtaining fetal genetic material so that prenatal diagnosis can be applied to all pregnant women, regardless of age or objective risk of having a child with a genetic disease. The discovery of cell-free fetal DNA (cffDNA) in the mother's circulation has allowed the development of Non Invasive Prenetal Testing (NIPT) and today the development of methods and technologies for the optimal utilization and amplification of cffDNA is a key area of research.

The aim of the present thesis is to describe in detail prenatal diagnosis of chromosomal abnormalities that may occur in the fetus, such as trisomy 21, 18 and 13 or Turner monosomy using biochemical and ultrasound markers, with greater emphasis on the latest technology, non-invasive prenatal screening techniques.

Efforts are constantly being made to make non-invasive prenatal testing a routine screening in most countries, to increase the diagnostic value, to reduce the cost of NIPT services and to properly inform physicians and patients about the available NIPT options and the evaluation and interpretation of the produced results. Keywords: non-invasive prenatal testing/diagnosis (NIPT/NIPD), cell-free fetal DNA (cffDNA), chromosomal abnormalities, biochemical markers, Next-Generation Sequencing (NGS)

SAKALOGLOU Prodromos