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Prenatal diagnosis of haemophilia

Ljung, R.C.R. LU (1999) In Haemophilia 5(2). p.84-87
Abstract
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.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Factor IX, Factor VIII, Haemophilia A, Haemophilia B, Prenatal diagnosis, chorion villus sampling, diagnostic accuracy, DNA polymorphism, genetic counseling, genetic linkage, genotype, gestational age, hemophilia A, hemophilia B, heterozygote detection, human, prenatal diagnosis, priority journal, short survey, social psychology
in
Haemophilia
volume
5
issue
2
pages
4 pages
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • Scopus:0032955258
  • WOS:000079783300002
ISSN
1351-8216
DOI
10.1046/j.1365-2516.1999.00295.x
language
English
LU publication?
yes
id
6c85d421-172b-4c87-ae1e-9d6fcfee9e89
date added to LUP
2016-11-25 14:20:12
date last changed
2016-11-30 10:40:50
@misc{6c85d421-172b-4c87-ae1e-9d6fcfee9e89,
  abstract     = {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.},
  author       = {Ljung, R.C.R.},
  issn         = {1351-8216},
  keyword      = {Factor IX,Factor VIII,Haemophilia A,Haemophilia B,Prenatal diagnosis,chorion villus sampling,diagnostic accuracy,DNA polymorphism,genetic counseling,genetic linkage,genotype,gestational age,hemophilia A,hemophilia B,heterozygote detection,human,prenatal diagnosis,priority journal,short survey,social psychology},
  language     = {eng},
  month        = {11},
  number       = {2},
  pages        = {84--87},
  publisher    = {ARRAY(0x8c45e40)},
  series       = {Haemophilia},
  title        = {Prenatal diagnosis of haemophilia},
  url          = {http://dx.doi.org/10.1046/j.1365-2516.1999.00295.x},
  volume       = {5},
  year         = {1999},
}