Interphase fish: A helpful assay in prenatal cytogenetics diagnosis

Abstract

Since its introduction around the end of the 1970s, interphase fluorescence in situ hybridization (FISH) supports both classical and recent techniques for determining fetal karyotypes during prenatal diagnosis, quickly providing relevant information for the management of pregnancy. Interphase FISH plays an important role in the study of pregnancies with malformations, in mosaicism conditions, in confirming or excluding aneuploidy detected by non-invasive prenatal testing, and in the diagnosis of contiguous gene syndromes due to microdeletions. The availability of many commercial probes from different genomic regions makes this method versatile and easy to apply in the pathways of prenatal diagnosis and fetal care.