Prospects for preconception genetic screening at the pregnancy planning stage

Abstract

To date, the active introduction of genetic technologies into practical medicine continues in the healthcare sector. The number of genetic diseases is growing, for which different gene therapy and targeted therapy options are emerging. At the same time, the genetic burden in the population is also increasing. The only way to reduce it is the universal introduction of primary preventive programs, the most significant of which is preconception screening, or carrier screening of monogenic diseases. In this review article, various options for preconception screening are considered in detail and the main categories of people for whom such a survey is indicated are identified. The latter are high school students, couples registering a marriage, couples planning a pregnancy, women in early pregnancy, relatives of family members of adolescents with established disabilities, as well as donors of sperm or eggs used in IVF cycles. A detailed historical perspective and examples of various international carrier screening programs for genetic diseases are given in this review. Our analysis shows that sequential testing for monogenic diseases is an appropriate screening strategy (the woman shall be examined first). As part of the screening, the ethnic composition of the population should be taken into account. However, in the case of a mixed population and a high frequency of migration, it is preferable to use an expanded panel that includes the most frequent diseases characteristic of the nationalities inhabiting a certain region. The best results are achieved with mandatory or almost mandatory screening. This review shows the main steps that have been taken in the Russian Federation over the past two years and describes the programs of the Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia. These include free screening programs for family members and relatives of patients with the most common diseases and couples with reproductive loss, as well as a carrier screening program for six major diseases at the expense of the patient. The summary part provides an assessment of the prospects for the practical use of carrier screening in the general population and high-risk groups, as well as for donors of reproductive material, in Russia.

Keywords

preconception screening / carrier screening / pregnancy planning / preimplantation genetic testing / prenatal diagnosis

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