Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants
; 14 additional shared genes with PLP variants were associated with severe, early-onset disorders. Forty-three couples were deemed high risk for AR conditions. Their reproductive choices varied, including in vitro fertilization or proceeding with pregnancy with or without prenatal testing. Couple-based RGCS revealed a substantial burden of shared AR carrier status in Western Romania, supporting the implementation of population-level screening programs to improve reproductive risk assessment and informed decision-making.
Authors
- Cristina Gug (ORCID: https://orcid.org/0000-0003-0111-6606)
- Larisa Olteanu (ORCID: https://orcid.org/0000-0002-3098-8190)
- Nicoleta Andreescu (ORCID: https://orcid.org/0000-0002-2647-4234)
- Aurora Alexandra Jurcă
- Raul Pătrașcu
- Tudor-Alexandru Popoiu (ORCID: https://orcid.org/0009-0005-8127-1834)
- Miruna-Cristiana Gug (ORCID: https://orcid.org/0000-0001-7548-9152)
- Paula Andreea Roman
Institutions
- University of Oradea (RO)
- American College of Medical Genetics (US)
- Victor Babeș University of Medicine and Pharmacy Timișoara (RO)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2026-04-17
- DOI
- https://doi.org/10.3390/ijms27083581
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Invitae