Article
Expanded targeted preconception screening panel in Israel: findings and insights.
Journal of medical genetics - 19 Jul 2024
Reches Adi, Ofen Glassner Vered, Goldstein Nurit, Yeshaya Josepha, Delmar Galit, Portugali Ellie, Hallas Tova, Weinstein Amit, Kurolap Alina, Berkenstadt Michal, Mantsour Tal, Abu-Gutstein Liat, Ries-Levavi Liat, Reznik-Wolf Haike, Behar Doron Moshe, Yaron Yuval, Pras Elon, Baris Feldman Hagit
Abstract excerpt
BACKGROUND: We aimed to analyse the efficacy and added value of a targeted Israeli expanded carrier screening panel (IL-ECSP), beyond the first-tier test covered by the Israeli Ministry of Health (IMOH) and the second-tier covered by the Health Maintenance Organisations (HMOs). METHODS: A curated variant-based IL-ECSP, tailored to the uniquely diverse Israeli population, was offered at two tertiary hospitals and...
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