European journal of human genetics : EJHG · 2024
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.
СтатьяОбзорConsensus StatementНазвание и аннотация: Перевод в очереди
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Vendrell Xavier, Abulí Anna, Serra Clara, Guillén Juan José, Rueda Joaquín, García-Planells Javier, Santos-Simarro Fernando, Quiroga Ramiro, Abellán Fernando, Oancea-Ionescu Raluca, Guillén-Navarro Encarna
Аннотация
Autosomal recessive or X-linked disorders are passed from parents to offspring through Mendelian inheritance patterns and may lead to severe clinical manifestations in early childhood development. Together, the Spanish Association of Human Genetics (AEGH), Association for the Study of Reproductive Biology (ASEBIR), Spanish Association of Genetic Counselling (SEAGEN), Spanish Fertility Society (SEF), Spanish Society of Clinical Genetics and Dysmorphology (SEGCD), and the Spanish Association of Prenatal Diagnostics (AEDP) developed a consensus statement for population-based genetic carrier screening (GCS). The presented opinion statement recommends that preconception GCS services be included in the public healthcare system to support couples' reproductive autonomy and timely medical decision-making. Program design and implementation strategies, as well as key technical, ethical, and legal considerations are discussed.