Chapter 18 - Cell-Based Noninvasive Prenatal Testing: A Promising Path for Prenatal Diagnosis

Abstract

Current noninvasive prenatal testing (NIPT) based on cell-free fetal DNA extracted from maternal plasma, has brought about a huge change in the field of prenatal testing, even though it should still be considered as a screening test with limited purpose rather than a diagnostic test. Cell-based NIPT could provide a very valuable alternative, as it is suitable for the detection of aneuploidies, subchromosomal copy number abnormalities, and single gene mutations. Fetal cells present in the maternal circulation have been a topic of interest for decades, with the current focus mainly being on trophoblastic cells and fetal nucleated red blood cells. This review gives an overview on how cell-based NIPT has evolved over the years, and what the current achievements and challenges are. Although no cell-based test is yet commercially available, it is clear that the development of this method is approaching clinical implementation.