Advances in Prenatal Screening and Non-Invasive Prenatal Testing

This chapter provides a comprehensive review of current methodologies in prenatal screening, with particular emphasis on the transformative role of cell-free fetal DNA (cfDNA) analysis and expanded carrier screening panels. It critically appraises the clinical performance, limitations, and ethical implications of non-invasive prenatal testing (NIPT) in both high-risk and general obstetric populations. Emerging technologies, including single-cell analysis and whole-genome sequencing approaches, are discussed in the context of future clinical translation.