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The possibility to receive genetic information of the fetus from maternal blood during the course of pregnancy has been one of the main goals of research in prenatal medicine for decades. First, the detection of cell-free fetal DNA in maternal blood and finally, the de‐ velopment of the powerful technique of “next-generation sequencing” (NGS) were re‐ quired to finally transfer this analysis into clinical practice. Since its introduction in 2011, the clinical demand for the technique of non-invasive prenatal testing (NIPT) has been enormous. NIPT initially was available for the most common aneuploidies (trisomy 21, 13, and 18), but the varieties of diseases that can be detected prenatally by NIPT are in‐ creasing rapidly. In this chapter, we aim to describe the current basic concepts of NIPT, give an overview of the currently available NIPT tests and associated technical aspects. We will present our studies on the clinical uptake of NIPT into clinical care in two different European centers and its impact on prenatal diagnosis.

Clinical Implementation of Next-generation Sequencing in the Field of Prenatal Diagnostics