Evolution of Noninvasive Prenatal Screening: Past to Present

Prenatal screening has evolved significantly over the years. Earlier prenatal screening involved invasive procedures, which were limited by accuracy and invasiveness. Noninvasive methods like maternal serum screening followed but also had limitations. The 1990s saw the advent of cell-free fetal DNA (cffDNA), leading to noninvasive prenatal screening (NIPS). After the discovery of cffDNA, advances in its use have never stopped, ultimately leading to significant progress in this field. Initially considered as noninvasive prenatal diagnosis, NIPS has led on many fronts in fetal screening, addressing issues such as chromosomal aneuploidy, X-chromosome-related disorders, monogenic disorders, in addition to gender and RhD determination. As NIPS continues to evolve, its integration into routine prenatal care becomes increasingly essential. In this chapter, our goal is to explore some milestones and trace the evolution of NIPS over time.