Nikolenko M. The concept of prenatal genetic screening based on the unified laboratory standards and quality control system

Described below is the theoretical grounding and the new solution to the applied scientific problems in genetics, derived from the development of an integrated concept of prenatal genetic screening based on the unified system of laboratory standards, standardized diagnostic criteria and methodological requirements for each stage of prenatal screening. A program for individual genetic risk assessment has been modified based upon derived data for certain pathological and physiological states that affect the levels of biochemical markers, as well as the information about proven interpopulation differences within the parameters' distribution. The work proved the highest specifics of PAPP-A in the 1st trimester for chromosomal abnormalities and the possibility of using this marker in predicting of obstetric complications. A study found a fundamentally new pattern of changes in the level of free-beta hCG in the presence or absence of congenital heart defects in fetuses with Down syndrome.Statistical modeling and meta-analysis established that ranked prenatal screening strategy based on an assessment of biochemical and ultrasound markers of the 1st trimester and the 2nd trimester screening of only pregnant women with intermediate risk is the best one for the following criteria: detection rate of pathology and the number of false positive results. The outlined strategy and proposed system of quality control with three-level monitoring results, can be recommended for introduction in Ukraine.