P-509 Unveiling reproductive risks: a retrospective analysis…

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  • DOI 10.1093/humrep/deae108.849
  • OpenAlex ID W4400297072
  • Type Conference-abstract
  • Language EN
  • Published 01 Jul 2024
  • Volume 39 (Supplement_1)
  • Source Human Reproduction
  • Publisher Oxford University Press
  • Countries 1
  • Institutions 1
  • Added 05 Jul 2024
  • Updated 27 Oct 2026
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P-509 Unveiling reproductive risks: a retrospective analysis of carrier screening in 873 non-consanguineous couples

Conference-abstract 2024 EN

Abstract Study question What is the prevalence of at-risk couples for recessive genetic diseases, and can preconception carrier testing effectively identify these potential couples at risk? Summary answer High-risk couples, comprising mostly carriers of the ABCA4 and HBB genes, accounted for 3.7% of the analyzed cases, while another 3.2% categorized as moderate risk. What is known already It is wi…

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UN Sustainable Development Goals
1 SDGs
Authors & Affiliations
11 authors
#AuthorInstitutionsORCID
1 Ariadna Bellés — —
2 Jeanid Guillén — —
3 Gilberto Ramírez López — —
4 Aurora Sánchez Díaz — —
5 L Armengol-Dulcet Quantitative Genomics Medicine… (ES) —
6 Andrea Domingo-Gallego Quantitative Genomics Medicine… (ES)
7 Maria Segura Puimedon Quantitative Genomics Medicine… (ES)
8 Daniel Mataró — —
9 Mina Popovic —
10 Irene Miguel-Escalada —
11 Almudena Rodríguez-Aranda — —

Data: OpenAlex