Modern view of preconception carrier screening

Abstract

The article provides an overview current literature covering the issues of preconception carrier screening.

Hereditary diseases make a large contribution to disability, deterioration in quality of life and reduction in life expectancy, primarily among the child population. Treatment and rehabilitation of patients with hereditary diseases is accompanied by serious economic costs, as well as psychological and social problems. In many countries, preference for preventive measures over treatment measures is enshrined in law. Awareness of preconception carrier screening among non-genetic doctors and the general population is currently very low.

The development and introduction into practical healthcare of effective approaches to the prevention of hereditary diseases is of paramount importance in reproductive medicine. Conducting expanded carrier screening before pregnancy will allow for identifying in future parents the latent carriage of hereditary diseases responsible for infertility, miscarriage, infant or child mortality, and fetal development abnormalities, as well as formulating optimal tactics to prepare and introduce pregnancy, including the use of diagnostic and preventive measures.

Keywords

preconception carrier screening / hereditary diseases / autosomal recessive diseases / carrier screening / prevention

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