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Article

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants.

International journal of molecular sciences - 17 Apr 2026

Gug Miruna, Gug Cristina, Jurca Aurora Alexandra, Popoiu Tudor-Alexandru, Patrascu Raul, Roman Paula Andreea, Olteanu Larisa, Andreescu Nicoleta

Abstract excerpt

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's 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42074219
DOI: 10.3390/ijms27083581
PMCID: PMC13115674

Genes

AR
BTD
CFTR
COL7A1
HFE
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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