AI Article Synopsis
- Autosomal recessive and X-linked disorders can have serious effects on childhood development and are inherited through specific Mendelian genetics patterns.
- A group of Spanish genetic and reproductive organizations issued a consensus statement advocating for population-based genetic carrier screening (GCS).
- They recommend integrating preconception GCS into public healthcare to enhance couples' reproductive choices and inform timely health decisions, addressing various technical, ethical, and legal factors in the process.
Article Abstract
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.
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| http://dx.doi.org/10.1038/s41431-024-01751-3 | DOI Listing |
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