2022/08/01 by Elena Kypri, Marios Ioannides, Achilleas Achilleos +3 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Parvovirus B19 Infection Studies #Prenatal Screening and Diagnostics #Renal and related cancers
paper · pdf · doi:10.1515/labmed-2022-0023
openalex publication_date 2022/08/01 · openalex created_date 2022/08/13 · openalex updated_date 2026/07/30
Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development the screening has expanded to other genetic conditions such as sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplications, structural chromosomal aberrations and monogenic diseases. Meanwhile, commercial providers are offering a number of different tests, with variable performance, the application of which needs to be carefully evaluated to apply to the true needs of clinical practice. In our review we present the different NIPT methodologies and discuss the main strengths and limitations in the context of providing a responsible pregnancy management.