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Prenatal diagnosis ...
Prenatal diagnosis of haemophilia
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- Ljung, R.C.R. (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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(creator_code:org_t)
- 2002-04-25
- 1999
- Engelska 4 s.
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 5:2, s. 84-87
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- 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
Publikations- och innehållstyp
- for (ämneskategori)
- ref (ämneskategori)
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