P715: Trends in genetic testing for consanguineous couples: …
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- DOI 10.1016/j.gimo.2026.104207
- OpenAlex ID W7133762029
- Type Conference-abstract
- Language EN
- Published 01 Jan 2026
- Volume 4
- Pages 104207
- Source Genetics in Medicine Open
- Publisher Elsevier BV
- Countries 1
- Institutions 3
- Added 06 Mar 2026
- Updated 26 Sep 2026
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P715: Trends in genetic testing for consanguineous couples: A single center cohort study
Conference-abstract 2026 EN Gold
Consanguineous couples have increased risk for autosomal recessive (AR) diseases and fetal anomalies. Since 2021, the American College of Medical Genetics and Genomics (ACMG) has recommended Tier 4 expanded carrier screening (ECS), which includes less common conditions, for consanguineous patients. We aimed to assess carrier screening uptake and rates of fetal anomalies in consanguineous patients.
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UN Sustainable Development Goals
1 SDGsAuthors & Affiliations
10 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Joselle O'Brien | Maimonides Medical Center (US) | |
| 2 | Estephanie Garcia | SUNY Downstate Health Sciences… (US) | — |
| 3 | Eliana Wachstock | Yeshiva University (US) | — |
| 4 | Emily Schlussel Markovic | Maimonides Medical Center (US) | |
| 5 | Itamar D. Futterman | Maimonides Medical Center (US) | |
| 6 | Robyn Weiss | Maimonides Medical Center (US) | — |
| 7 | Nelli Fisher | Maimonides Medical Center (US) | |
| 8 | Shoshana Haberman | Maimonides Medical Center (US) | — |
| 9 | Rodney Anthony McLaren | Maimonides Medical Center (US) | |
| 10 | Tirtza Spiegel Strauss | Maimonides Medical Center (US) |
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