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

ABSTRACT: Background/Objectives: This study reports on findings from the first preconception screening performed in Russia and provides a comprehensive discussion of the significant results and challenges faced during the implementation of the project. Methods: Using a targeted sequencing panel of 33 genes (associated with 29 autosomal recessive and 4 X-linked diseases), we analyzed 165 couples considering pregnancy. The screening design also included analysis of the frequent pathogenic variants in the SMN1, DMD, CFTR, and CYP21A2 genes that may not be detected through the next-generation sequencing approach. The sequential screening protocol, wherein the female partner was tested first, was used. Results: The results revealed that 35.8% of women (

SUBMITTER: Glotov AS 

PROVIDER: S-EPMC12841009 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature