Molecular genetic research

Genetic marker analysis is a laboratory study that identifies specific DNA segments associated with hereditary diseases, predisposition to pathologies, or individual characteristics of the organism.
Determining individual predisposition to cancer, cardiovascular, and other diseases.

Genetic testing in pregnancy planning - prenatal and neonatal diagnostics.

Cytogenetic studies are laboratory methods that allow the study of human chromosomes to identify structural and quantitative anomalies. The most common methods include:

Karyotyping - determining the complete set of chromosomes (quantity and structure).
It is used for diagnosing hereditary syndromes (e. g. , Down syndrome, Turner syndrome, Klinefelter syndrome), infertility, recurrent pregnancy loss. It is applied in preparation for IVF and pregnancy planning.

FISH (fluorescent in situ hybridization) is a highly accurate method that detects microdeletions, duplications, and translocations of chromosomes. It is used in oncohematology (e. g. , in leukemias) and prenatal diagnostics. It allows for faster and more detailed detection of genetic anomalies than classical karyotyping.

Non-invasive prenatal testing (NIPT) is a modern method of genetic research of the fetus through the mother's blood. It allows for the determination of the risk of chromosomal anomalies with high accuracy without posing a threat to the mother and child.

What NIPT detects:

Down syndrome (trisomy 21),
Edwards syndrome (trisomy 18),
Patau syndrome (trisomy 13),
sex chromosome anomalies (X, Y),
some microdeletions and duplications

Advantages: NIPT is absolutely safe for the mother and fetus, can be conducted from the 10th week of pregnancy, has high accuracy (over 99% for trisomies), and serves as an alternative to invasive methods (chorionic villus sampling, amniocentesis) at the primary screening stage.