Prenatal diagnosis of haemophilia

被引：14
作者：
Ljung, RCR
机构：
[1] Malmo Univ Hosp, Univ Lund, Dept Paediat, Malmo, Sweden
[2] Malmo Univ Hosp, Univ Lund, Dept Coagulat Disorders, Malmo, Sweden
来源：
HAEMOPHILIA | 1999年 / 5卷 / 02期
关键词：
haemophilia A; haemophilia B; factor VIII; factor IX; prenatal diagnosis;
D O I：
10.1046/j.1365-2516.1999.00295.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11-12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal diagnosis. Carriers of haemophilia should be offered:adequate psychosocial support before, during and after the prenatal diagnostic procedures.
引用
收藏
页码：84 / 87
页数：4
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