Abstract
The article considers issues of legal regulation of preconception diagnostics (preconception screening) targeted to studying carriage of monogenic diseases and facilitating implementation by potential parents their informed choice. It is emphasized that currently in the Russian Federation there is no comprehensive legal regulation of preconception screening. The existing legal regulation is fragmented. The development of relevant legal regulation requires to take into account targeted nature of preconception screening that is to be clearly distinguished from so-called opportunistic screening i.e. examination for no apparent reasons, indications or purpose. Besides, future normative regulation is to provide accessibility of this type of examination for patients, including its cost reduction.
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