Advanced Genomic Approaches in Noninvasive Prenatal Screening: The Road from Conventional Karyotyping to Next-Generation Sequencing

In just one decade, noninvasive prenatal screening (NIPS) has emerged as a global application for screening viable trisomies 13, 18, and 21, poised to largely replace other screening tools and even definitive diagnostic tests. However, this transition has created a diagnostic gap, where biological and technical limitations may result in incorrect conclusions and decisions for individual pregnancies. In this chapter, we aim to address these challenges by discussing classical diagnostic karyotyping, next-generation sequencing, and other advanced genetic diagnostic tools alongside NIPS.