Collection
Preconception carrier screening
When a child is diagnosed with a severe autosomal recessive condition, parents often ask the question: “Could we have known before that both of us are carrier of this condition?” Technically speaking, the answer to this question is “yes”, but in practice preconception carrier screening is not accessible to most couples worldwide. Decades ago, screening offers started for Tay Sachs disease, a severe progressive lethal neurodegenerative condition, among Ashkenazi Jewish people, as well as haemoglobin disorders in the Mediterranean area. Recent years have made it possible to move from ancestry-based screening for one condition to universal screening for a larger number of conditions. The Journal of Community Genetics has a longstanding interest in Preconception Carrier Screening. Here we offer a list of recent articles on the subject. New submissions on the topic are welcome.
Editors
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Helena Kääriäinen, MD, PhD, PhD, NIHW, Helsinki, Finland
Genomics and Biomarkers Unit, National Institute for Health and Welfare, Helsinki, Finland
Articles (11 in this collection)
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Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population
Authors (first, second and last of 6)
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Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide
Authors (first, second and last of 4)
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Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals
Authors (first, second and last of 9)
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Consanguinity and genetic diseases among the Bedouin population in the Negev
Authors (first, second and last of 4)
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Haemoglobinopathies in India: estimates of blood requirements and treatment costs for the decade 2017–2026
Authors (first, second and last of 4)
