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 development of the powerful technique of “next-generation sequencing” (NGS) were required 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 increasing rapidly.
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