{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:48:54Z","timestamp":1788821334819,"version":"build-2803163510"},"reference-count":45,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Victor Babe\u0219 University of Medicine and Pharmacy of Timisoara, Romania"},{"id":[{"id":"https:\/\/ror.org\/00afdp487","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Reproductive genetic carrier screening (RGCS) is recommended preconceptionally or early pregnancy to identify the risk of autosomal recessive (AR) disorders in healthy couples. Data on shared carrier status at the couple\u2019s level remains limited in Eastern Europe. This study presents the first couple-based RGCS analysis in Western Romania. We retrospectively analyzed RGCS results from 247 couples with no known consanguinity at the time of evaluation (494 apparently unrelated individuals, aged 22\u201352 years), assessed at a single genetic center between 2020\u20132024. Next-generation sequencing was performed using an expanded panel targeting 302 genes, including 300 genes associated with AR onset disorders. This analysis was accompanied by both pre- and post-test genetic counseling. The prevalence of individual and shared carrier status and reproductive risk was assessed. Pathogenic or likely pathogenic (PLP) variants were identified in the study cohort, with an overall couple carrier frequency of 64.37%. Shared carrier status for PLP variants in the same gene was identified in 17.4%, including three couples carrying pathogenic variants in two shared genes. Additionally, 46.96% of couples carried pathogenic variants in different genes without overlapping. The most frequently shared genes with PLP variants were HFE, CFTR, SMN1, BTD, and COL7A1; 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.<\/jats:p>","DOI":"10.3390\/ijms27083581","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T10:11:04Z","timestamp":1776420664000},"page":"3581","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7548-9152","authenticated-orcid":false,"given":"Miruna","family":"Gug","sequence":"first","affiliation":[{"name":"Doctoral School of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Medical Genetics, Department of Microscopic Morphology, Faculty of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Medical Genetics Office Doctor Gug, 300200 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0111-6606","authenticated-orcid":false,"given":"Cristina","family":"Gug","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Microscopic Morphology, Faculty of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Medical Genetics Office Doctor Gug, 300200 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora Alexandra","family":"Jurca","sequence":"additional","affiliation":[{"name":"Doctoral School of Biological and Biomedical Sciences, University of Oradea, 410087 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8127-1834","authenticated-orcid":false,"given":"Tudor-Alexandru","family":"Popoiu","sequence":"additional","affiliation":[{"name":"Doctoral School of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Medical Informatics and Biostatistics, Department of Functional Sciences, Faculty of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raul","family":"Patrascu","sequence":"additional","affiliation":[{"name":"Physiology, Department of Functional Sciences, Faculty of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula Andreea","family":"Roman","sequence":"additional","affiliation":[{"name":"General Medicine, Faculty of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larisa","family":"Olteanu","sequence":"additional","affiliation":[{"name":"Medical Genetics Office Doctor Gug, 300200 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2647-4234","authenticated-orcid":false,"given":"Nicoleta","family":"Andreescu","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Microscopic Morphology, Faculty of Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Genomic Medicine Centre, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"ref_1","unstructured":"Eurordis Rare Diseases Europe (2026, February 26). 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