Proteomic Biomarkers of Maternal Plasma and Their Use in Noninvasive Prenatal Testing (NIPT)

Prenatal screening has been revolutionized by noninvasive prenatal testing (NIPT), which analyzes the cell-free fetal DNA (cffDNA) in maternal blood to provide complete and reliable information about fetal genetic disorders. Contrary to the conventional invasive diagnosis that involves directly analyzing fetal cells from amniocentesis or chorionic villus sampling, the cffDNA can be isolated from maternal plasma with no risk of miscarriage. The necessity and development of reliable serum biomarkers that are both sensitive and specific continues to be a top priority with regard to the early noninvasive prenatal identification of fetal aneuploidies. Recent developments in proteomic technology based on mass spectrometry have transformed the medical research. This chapter discusses the developing field of proteomic biomarkers in NIPT and its uses in prenatal screening. The main goal of this chapter is to provide a thorough overview of the proteomic biomarkers that have showed promise in raising the precision and dependability of NIPT. It explores particular protein biomarkers linked to chromosomal abnormalities such Down syndrome, Edwards syndrome, and Turner syndrome as well as other typical complications of pregnancy. The chapter also analyzes how these proteomic biomarkers might improve the sensitivity and specificity of NIPT while providing details on their clinical value and diagnostic performance.