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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/6c85d421-172b-4c87-ae1e-9d6fcfee9e89
- author
- Ljung, R.C.R.
LU
- organization
- publishing date
- 1999-11-25
- 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
- Wiley-Blackwell
- external identifiers
-
- scopus:0032955258
- pmid:10215954
- 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
- 2022-01-30 07:50:00
@article{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}},
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}},
language = {{eng}},
month = {{11}},
number = {{2}},
pages = {{84--87}},
publisher = {{Wiley-Blackwell}},
series = {{Haemophilia}},
title = {{Prenatal diagnosis of haemophilia}},
url = {{http://dx.doi.org/10.1046/j.1365-2516.1999.00295.x}},
doi = {{10.1046/j.1365-2516.1999.00295.x}},
volume = {{5}},
year = {{1999}},
}