EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Autor: | Traeger-Synodinos, J., Harteveld, C.L., Old, J.M., Petrou, M., Galanello, R., Giordano, P., Angastioniotis, M., Salle, B. de la, Henderson, S., May, A., EMQN Haemoglobinopathies Best |
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Jazyk: | angličtina |
Rok vydání: | 2014 |
Předmět: |
medicine.medical_specialty
Genotype Prenatal diagnosis Genome-wide association study Pregnancy Prenatal Diagnosis Genetics medicine Humans Genetic Testing Allele Intensive care medicine Genetics (clinical) Disease burden Alleles Genetic testing Oligonucleotide Array Sequence Analysis medicine.diagnostic_test business.industry Genetic Variation Hemoglobin A Hematology Sequence Analysis DNA medicine.disease R1 Corrigenda Hemoglobinopathies Policy Practice Guidelines as Topic Identification (biology) Female business Genome-Wide Association Study |
Zdroj: | European Journal of Human Genetics European Journal of Human Genetics, 23(4), 426-437 |
ISSN: | 1476-5438 1018-4813 |
Popis: | Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially ‘atypical’ cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis. |
Databáze: | OpenAIRE |
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