Expanded carrier screening for autosomal recessive condition…

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Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple‐based approach and examination of couples' views

Article 2019 EN Hybrid

BACKGROUND: Expanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X-linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper, we present a couple-based ECS test-o…

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9 authors
#AuthorInstitutionsORCID
1 Mirjam Plantinga Corresponding University Medical Center Gron… (NL) University of Groningen (NL)
2 Erwin Birnie University Medical Center Gron… (NL) University of Groningen (NL)
3 Juliëtte Schuurmans University Medical Center Gron… (NL) University of Groningen (NL) +1 —
4 Anne H. Buitenhuis University Medical Center Gron… (NL) University of Groningen (NL)
5 Elise Boersma University Medical Center Gron… (NL) University of Groningen (NL) —
6 Anneke Lucassen University of Southampton (GB)
7 Marian A. Verkerk University Medical Center Gron… (NL) University of Groningen (NL)
8 Irene M. van Langen University Medical Center Gron… (NL) University of Groningen (NL)
9 Adelita V. Ranchor University Medical Center Gron… (NL) University of Groningen (NL)

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