Concept of prenatal diagnosis

• Еmelyanenko Elena S.

Abstract

Aims - to suggest the improved model of prenatal (pre-delivery) diagnosis with defined algorithm of examination during the period of both preconception and prenatal screening, the implementation into clinical practice new technologies in the area of genetic examination during the period of prenatal screening and diagnosis.

Design. The review and analysis of existing approaches in prenatal screening and diagnosis to prevent the abnormal neonatal outcomes of children with severe mental and physical disabilities.

Material and methods. Information for this article was taken from the analysis of the results of domestic and foreign research publications, dedicated to the issues of prenatal diagnosis in the world clinical practice.

Results. Possible courses of the improvement of existing model of prenatal diagnosis were suggested to prevent the birth of children with congenital anomalies.

Conclusion. In the background of the negative population - based tendencies on the territory of Russian Federation during the last 10 years, while implementing the Concept of Demographic Policy of Russian Federation until 2015 the enhancement of the reproductive health of the population, health of children and teenagers, it is crucial to refine the existing concept of prenatal screening and diagnosis.

Keywords:prenatal (pre-delivery) diagnosis, screening for chromosomal abnormalities, noninvasive prenatal testing, chromosomal microarray analysis, invasive procedures

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