Expanded carrier screening for reproductive risk assessment:…
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- DOI 10.1002/jgc4.1676
- PMID https://pubmed.ncbi.nlm.nih.gov/36756860
- OpenAlex ID W4319655584
- Type Article
- Language EN
- Published 09 Feb 2023
- Volume 32 (3)
- Pages 540–557
- Source Journal of Genetic Counseling
- Publisher Wiley
- FWCI 26.41
- Countries 1
- Institutions 9
- Added 10 Feb 2023
- Updated 31 Oct 2026
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Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors
Article 2023 EN Bronze
Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity-based screening, which requires accurate knowledge o…
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1 SDGsAuthors & Affiliations
9 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Katelynn G. Sagaser Corresponding | Johns Hopkins University (US) Johns Hopkins Medicine (US) | |
| 2 | Jennifer R. Malinowski | — | |
| 3 | Lauren E. Westerfield | Baylor College of Medicine (US) Texas Children's Hospital (US) | |
| 4 | Jennifer Proffitt | Invitae (United States) (US) | |
| 5 | Melissa A. Hicks | Detroit Medical Center (US) | |
| 6 | Tomi L. Toler | Washington University in St. L… (US) | |
| 7 | Karin J. Blakemore | Johns Hopkins University (US) Johns Hopkins Medicine (US) | |
| 8 | Blair Stevens | The University of Texas Health… (US) | |
| 9 | Lisa M. Oakes | Guardant (United States) (US) |
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