Supervisors info:
ΠαπαΪωάννου Γεώργιος Κωνσταντίνος, Διδάκτωρ, Ιατρική σχολή, ΕΚΠΑ
Καλανταρίδου Σοφία, Καθηγήτρια, Ιατρική σχολή, ΕΚΠΑ
Ευαγγελινάκης Νικόλαος, Διδάκτωρ, Ιατρική σχολή, ΕΚΠΑ
Summary:
Prenatal screening has undergone remarkable progress in recent years, offering new methods of detecting fetal genetic information with minimal risk to mother and fetus. An important breakthrough is the discovery and use of fetal extracellular DNA (cffDNA), i.e. Cell Free Fetal DNA, in maternal blood, which has revolutionized prenatal assessments and expanded the field of non-invasive prenatal diagnosis (NIPT).Cell Free Fetal DNA refers to fetal DNA fragments that circulate freely in the pregnant woman's bloodstream, can be isolated and analyzed to obtain valuable genetic information about the developing fetus.The discovery of cffDNA opened up new possibilities for prenatal screening, allowing non-invasive detection of fetal genetic abnormalities, including chromosomal aneuploidy, single-gene diseases and other conditions. Through extensive research, our understanding of the biological and physical characteristics of cffDNA has improved, shedding light on its origin, size, clearance profiles, and sequence characteristics.These ideas have paved the way for the development of cfDNA enrichment methods, facilitating non-invasive prenatal diagnosis and offering many advantages over traditional invasive methods, such as reduced risks to the fetus and greater patient acceptance.
However, despite the promising applications of cfDNA testing, there are also challenges and limitations that need to be addressed.The potential for false-positive or false-negative results, variable levels of cffDNA in maternal blood, expensive technology, and ethical and social factors are among the issues that require careful consideration (Nicolaides et al., 2013; Wright & Burton, 2011). Ensuring the accuracy and reliability of the cffDNA assay requires strict quality control measures, standardization, and ongoing research to improve its performance and expand its applications (Lau et al., 2013).In this survey, we will delve into the biological, physical, and clinical perspectives of cfDNA testing, exploring its origins, characteristics, applications, and challenges. We will review the existing literature to provide an in-depth analysis of cfDNA testing, including history, molecular characteristics, extraction and analysis methods, clinical applications, advantages, limitations, and future perspectives. By thoroughly reviewing current knowledge and research gaps in cfDNA testing, we aim to provide a comprehensive overview of this rapidly evolving field, highlighting its implications and potential for improving prenatal care and genetic screening in pregnancy.
Keywords:
NIPT, CffDNA, Non, Invasive, Prenatal, Testing
