Abstract
Today, the problem of timely diagnosis of fetal genetic disorders is especially urgent for the medical community. At the moment, the most effective are molecular-genetic methods - a large and diverse group of methods designed to detect damage in the structure of a DNA section up to deciphering the primary sequence of bases. The emergence of molecular-genetic methods has opened up a new dimension in the study of human chromosomes and their viola- tion - the submicroscopic level. The main studies used by healthcare professionals are: determination of the karyo- type; study of the material of missed pregnancies; examination of oocytes and spermatozoa; prenatal invasive and non-invasive diagnostics; genetic counseling. The method of fluorescence in situ hybridization (FISH), allows you to objectively identify the nucleotide composition of a particular chromosome or locus. FISH assays are important for the clinical diagnosis of various chromosomal abnormalities, including deletions, duplications, and translocations.
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