Prenatal diagnosis of haemophilia
- 1 March 1999
- journal article
- review article
- Published by Wiley in Haemophilia
- Vol. 5 (2) , 84-87
- https://doi.org/10.1046/j.1365-2516.1999.00295.x
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.Keywords
This publication has 13 references indexed in Scilit:
- Identifying carriers at high risk for negative reactions when performing prenatal diagnosis of haemophiliaHaemophilia, 1997
- The impact of prenatal diagnosis on the incidence of haemophilia in SwedenHaemophilia, 1995
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second editionNucleic Acids Research, 1994
- Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994Nucleic Acids Research, 1994
- Inversions disrupting the factor VIII gene are a common cause of severe haemophilia ANature Genetics, 1993
- Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversionsHuman Molecular Genetics, 1993
- Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD)Human Genetics, 1990
- How Do Carriers of Hemophilia Experience Prenatal Diagnosis (PND)?Carriers’Immediate and Later Reactions to Amniocentesis and Fetal Blood SamplingActa Paediatrica, 1989
- Chorionic villi sampling: Women's attitudesAmerican Journal of Medical Genetics, 1985
- Sampling pure fetal blood by fetoscopy in second trimester of pregnancy.BMJ, 1978