Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges

Area of Science:

• Genetics
• Reproductive Health
• Medical Screening

Background:

• First preconception screening conducted in Russia.
• Focus on identifying carriers of autosomal recessive and X-linked diseases.
• Addresses challenges in implementing genetic screening programs.

Purpose of the Study:

• Evaluate reproductive risk in couples planning pregnancy.
• Assess the utility of a targeted gene panel for preconception screening.
• Determine carrier frequencies of pathogenic variants in the Russian population.

Main Methods:

• Targeted sequencing of 33 genes associated with 29 autosomal recessive and 4 X-linked diseases.
• Analysis of frequent pathogenic variants in SMN1, DMD, CFTR, and CYP21A2 genes.
• Sequential screening protocol with initial testing of the female partner.

Main Results:

• 35.8% of women were carriers of at least one pathogenic or likely pathogenic variant.
• 7.9% of women carried variants in two or more genes.
• Six couples (3.6%) were identified at high risk for genetic disorders in offspring.

Conclusions:

• The gene panel demonstrates high clinical utility for evaluating reproductive risk.
• Observed variant frequencies differ from theoretical expectations.
• Comprehensive genetic counseling is crucial for informed reproductive decisions.