| 1. |
- Ljung, R.C.R.
(författare)
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Prenatal diagnosis of haemophilia
- 1999
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 5:2, s. 84-87
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Forskningsöversikt (refereegranskat)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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| 2. |
- Tedgård, U., et al.
(författare)
-
Reproductive choices of haemophilia carriers
- 1999
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048. ; 106:2, s. 421-426
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Tidskriftsartikel (refereegranskat)abstract
- The actual reproductive choices made by slightly over a quarter of all the carriers of severe or moderate haemophilia in Sweden were investigated and compared with those of a randomly selected age-matched group of women who were not carriers of haemophilia. In general, the 105 carriers had the same number of children as other women of similar age. However, carriers who did not choose prenatal diagnosis (PD) often abstained from further pregnancies after the birth of a haemophilic child, and they had significantly fewer children than the remainder of the carriers, as well as fewer children than women in the control group. Logistic regression analysis showed choice of PD to be correlated to a positive attitude towards abortion following PD and a family history of haemophilia. Carriers who have experienced the complications of haemophilia or its treatment appear to be more in favor of PD than women whose haemophilic children have received modern treatment without complications.
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| 3. |
- Tedgård, Ulf, et al.
(författare)
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How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?
- 1999
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Ingår i: Clinical Genetics. - 0009-9163. ; 55:1, s. 26-33
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Tidskriftsartikel (refereegranskat)abstract
- A semistructured personal interview with 29 female carriers of hemophilia and 23 of their spouses was performed at a median of 3 1/2 years after the first chorionic villus sampling (CVS) and gene analysis. Carriers with a hemophilic father or brother, had high sense of coherence (SOC) scores, and thus would be expected to have good ability to handle the stress of prenatal diagnosis (PD). Prenatal diagnosis of hemophilia by CVS was generally well accepted by the women and their spouses. However, the period while waiting for test results was experienced as emotionally troublesome by both the women and their spouses; women reporting significantly more psychiatric or psychosomatic symptoms than men. Positive effects resulting from participation by the spouse on how the women experienced PD could not be identified. Selective abortion after first trimester PD was clearly experienced as emotionally painful by both the women and their spouses, these reactions being similar to, but not as pronounced as those found after second trimester selective abortion. Notably, signs of depressive mood were observed several years after the abortion, and the provision of psychosocial support should be recommended for couples who decide upon termination of pregnancy following PD.
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| 4. |
- Tedgård, U., et al.
(författare)
-
Long-term psychological effects of carrier testing and prenatal diagnosis of haemophilia: Comparison with a control group
- 1999
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Ingår i: Prenatal Diagnosis. - 1097-0223. ; 19:5, s. 411-417
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Tidskriftsartikel (refereegranskat)abstract
- The long-term psychological effects resulting from carrier testing and prenatal diagnosis (PD) of haemophilia were evaluated by comparing mental symptomatology scores (Symptom Check List, SCL-90) for 50 carriers of haemophilia who had undergone PD about five years earlier, 55 carriers who had not undergone PD and 262 control women who were not carriers. All of the women had children. Carrier testing for haemophilia per se and in combination with PD does not appear to have negative long-term psychological effects. A low tendency for somatization seems to be a factor characteristic of carriers considering PD for haemophilia and it was particularly salient when carriers had to consider the more invasive late PD procedures (amniocentesis and fetal blood sampling). Women who performed late PD appeared to represent a positive selection of carriers for whom a good sense of coherence and social support protected them from negative long-term psychological effects. It is reassuring that early PD by CVS, which is the current method of choice for PD for haemophilia, did not appear to have negative long-term psychological effects, even for women who had had an early abortion following PD.
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