Expanded carrier screening for autosomal recessive condition…
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- DOI 10.1002/pd.5437
- PMID https://pubmed.ncbi.nlm.nih.gov/30756401
- PMCID https://www.ncbi.nlm.nih.gov/pmc/articles/6593986
- OpenAlex ID W2912237471
- Type Article
- Language EN
- Published 13 Feb 2019
- Volume 39 (5)
- Pages 369–378
- Source Prenatal Diagnosis
- Publisher Wiley
- FWCI 4.66
- Countries 2
- Institutions 3
- Added 21 Feb 2019
- Updated 31 Oct 2026
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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
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4.66
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1 SDGsAuthors & Affiliations
9 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 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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