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Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants
Miruna Gug1,2,3, Cristina Gug2,3, Aurora Alexandra Jurca4
1Doctoral School of Medicine, "Victor Babes" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
International Journal of Molecular Sciences
|May 4, 2026
Summary
Reproductive genetic carrier screening reveals a high prevalence of shared autosomal recessive disorder risk in Western Romania. This highlights the need for couple-based screening to inform reproductive choices and improve genetic counseling.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Population Screening
Background:
- Reproductive genetic carrier screening (RGCS) is crucial for identifying risks of autosomal recessive (AR) disorders in couples.
- Limited data exists on couple-level carrier status in Eastern Europe.
- This study addresses this gap by presenting the first couple-based RGCS analysis in Western Romania.
Purpose of the Study:
- To analyze the prevalence of individual and shared carrier status for AR disorders in couples in Western Romania.
- To assess reproductive risk and reproductive choices based on RGCS results.
- To provide data supporting the implementation of population-level screening programs.
Main Methods:
- Retrospective analysis of RGCS results from 247 couples (494 individuals) in Western Romania (2020-2024).
- Next-generation sequencing using an expanded panel targeting 302 genes, including 300 for AR disorders.
- Inclusion of pre- and post-test genetic counseling for all participants.
Main Results:
- Overall couple carrier frequency for pathogenic or likely pathogenic (PLP) variants was 64.37%.
- Shared carrier status for PLP variants in the same gene was found in 17.4% of couples.
- High-risk couples (43) made varied reproductive choices, including IVF and proceeding with pregnancy with or without prenatal testing.
Conclusions:
- Couple-based RGCS in Western Romania identified a substantial burden of shared carrier status for AR disorders.
- Findings support the implementation of population-level screening programs for improved reproductive risk assessment.
- Informed decision-making regarding reproductive choices can be enhanced through comprehensive genetic screening and counseling.
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