Possibilities of molecular genetic analysis for prenatal diagnosis

Abstract

Many genetic disorders are found in the prenatal period. The ability to detect them has increased significantly as molecular genetic testing methods have been improved and introduced into clinical practice. Indications for prenatal genetic testing vary widely, and include abnormalities found on ultrasound or aneuploidy screening, family anamnesis of genetic disorders in the parents, advanced age of the mother and/or father. Interpretation of genetic variants identified in the prenatal period presents a unique challenge due to the need to make important decisions regarding pregnancy continuation and perinatal management. This review analyzes the methods that are used for genetic testing, including preimplantation genetic testing of embryos, cell-free DNA testing, as well as diagnostic procedures such as chorionic villus sampling, amniocentesis or percutaneous umbilical cord blood sampling, which provide samples for a wide range of genetic tests. The analysis of the advantages and disadvantages of various fetus genetic diagnostic methods, as well as strategies for their optimal use during perinatal care, was carried out.