Expanded targeted preconception screening panel in Israel: findings and insights.
Adi RechesVered Ofen GlassnerNurit GoldsteinJosepha YeshayaGalit DelmarEllie PortugaliTova HallasAmit WeinsteinAlina KurolapMichal BerkenstadtTal MantsourLiat Abu-GutsteinLiat Ries-LevaviHaike Reznik-WolfDoron Moshe BeharYuval YaronElon PrasHagit Baris FeldmanPublished in: Journal of medical genetics (2024)
This is the largest cohort of targeted ECSP testing, tailored to the diverse Israeli population. The IL-ECSP expands the identification of couples at risk and empowers their reproductive choices. We recommend endorsing an expanded targeted panel to the National Genetic Carrier Screening programme.