产前诊断
鉴定(生物学)
遗传咨询
载波测试
医学
疾病
怀孕
遗传学
生物
病理
胎儿
植物
作者
Joanne Traeger‐Synodinos,Cornelis L. Harteveld,John Old,Mary Petrou,Renzo Galanello,Piero C. Giordano,Michael Angastioniotis,Barbara De la Salle,Shirley Henderson,Alison May
标识
DOI:10.1038/ejhg.2014.131
摘要
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.
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