Thirty-years' experience of prenatal diagnosis of haemophilia in Sweden
Ljung, R. LU
and MÅRTENSSON, ANNIKA
LU
(2011)
XXIII Congress of the International Society on Thrombosis and Haemostasis
In Journal of Thrombosis and Haemostasis
9.
p.462-462
- Abstract
- Aims: To study the number, outcome and reasons for prenatal diagnosis (PND) and how it has affected the incidence of haemophilia, the number of siblings and the number of potential carriers in the families. Study Group: Women in SWE, compromising over 95% of total, who underwent PND of haemophilia during the years 1970-2010. A total of 46 women were identified who together underwent 79 PND procedures. Method: Structured personal interview and registry of laboratory analysis. So far, 27 women have been interviewed. Preliminary Results: 19/79 PND had been performed by analysis of foetal blood, 55/79 by genetic analysis of chorionic villi sampling and 5/79 by analysis of amniotic fluid. A total of 24 foetuses were found to be affected with... (More)
- Aims: To study the number, outcome and reasons for prenatal diagnosis (PND) and how it has affected the incidence of haemophilia, the number of siblings and the number of potential carriers in the families. Study Group: Women in SWE, compromising over 95% of total, who underwent PND of haemophilia during the years 1970-2010. A total of 46 women were identified who together underwent 79 PND procedures. Method: Structured personal interview and registry of laboratory analysis. So far, 27 women have been interviewed. Preliminary Results: 19/79 PND had been performed by analysis of foetal blood, 55/79 by genetic analysis of chorionic villi sampling and 5/79 by analysis of amniotic fluid. A total of 24 foetuses were found to be affected with haemophilia and 13/24 were aborted. The 24 foetuses affected with haemophilia were carried by 20 women. Twelve of these 20 women chose to end their pregnancy because of the findings. The preliminary results suggest that the drop in incidence of haemophilia due to PND in the 1990s no longer exists since almost half of the women today use PND to prepare themselves and their families psychologically to have a child with haemophilia and not to terminate the pregnancy. Furthermore, there seem to be more women becoming mothers since the improvement of care, thus giving birth to more children, both boys and girls, the latter being possible carriers. Conclusions: PND of haemophilia is still requested, but the number of affected foetuses aborted has diminished. Furthermore, the number of siblings seems to have increased, so the number of future carriers will also increase. (Less)
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- author
- Ljung, R.
LU
and MÅRTENSSON, ANNIKA
LU
- organization
- publishing date
- 2011-07-01
- type
- Contribution to journal
- publication status
- published
- keywords
- hemophilia, hemostasis, thrombosis, prenatal diagnosis, society, human, female, fetus, child, pregnancy, sibling, male, boy, girl, interview, register, laboratory, blood, genetic analysis, chorion villus sampling, amnion fluid, mother
- in
- Journal of Thrombosis and Haemostasis
- volume
- 9
- article number
- P-TU-492
- pages
- 1 pages
- publisher
- Wiley-Blackwell
- conference name
- XXIII Congress of the International Society on Thrombosis and Haemostasis
- conference location
- Kyoto, Japan
- conference dates
- 2011-07-23 - 2011-07-28
- ISSN
- 1538-7933
- DOI
- 10.1111/j.1538-7836.2011.04380_2.x
- language
- English
- LU publication?
- yes
- id
- 3c07977e-b8a8-4c9d-a8ad-91b11c0d5be0
- date added to LUP
- 2016-11-25 14:26:25
- date last changed
- 2018-11-21 21:27:40
@misc{3c07977e-b8a8-4c9d-a8ad-91b11c0d5be0,
abstract = {{Aims: To study the number, outcome and reasons for prenatal diagnosis (PND) and how it has affected the incidence of haemophilia, the number of siblings and the number of potential carriers in the families. Study Group: Women in SWE, compromising over 95% of total, who underwent PND of haemophilia during the years 1970-2010. A total of 46 women were identified who together underwent 79 PND procedures. Method: Structured personal interview and registry of laboratory analysis. So far, 27 women have been interviewed. Preliminary Results: 19/79 PND had been performed by analysis of foetal blood, 55/79 by genetic analysis of chorionic villi sampling and 5/79 by analysis of amniotic fluid. A total of 24 foetuses were found to be affected with haemophilia and 13/24 were aborted. The 24 foetuses affected with haemophilia were carried by 20 women. Twelve of these 20 women chose to end their pregnancy because of the findings. The preliminary results suggest that the drop in incidence of haemophilia due to PND in the 1990s no longer exists since almost half of the women today use PND to prepare themselves and their families psychologically to have a child with haemophilia and not to terminate the pregnancy. Furthermore, there seem to be more women becoming mothers since the improvement of care, thus giving birth to more children, both boys and girls, the latter being possible carriers. Conclusions: PND of haemophilia is still requested, but the number of affected foetuses aborted has diminished. Furthermore, the number of siblings seems to have increased, so the number of future carriers will also increase.}},
author = {{Ljung, R. and MÅRTENSSON, ANNIKA}},
issn = {{1538-7933}},
keywords = {{hemophilia; hemostasis; thrombosis; prenatal diagnosis; society; human; female; fetus; child; pregnancy; sibling; male; boy; girl; interview; register; laboratory; blood; genetic analysis; chorion villus sampling; amnion fluid; mother}},
language = {{eng}},
month = {{07}},
note = {{Conference Abstract}},
pages = {{462--462}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Thrombosis and Haemostasis}},
title = {{Thirty-years' experience of prenatal diagnosis of haemophilia in Sweden}},
url = {{http://dx.doi.org/10.1111/j.1538-7836.2011.04380_2.x}},
doi = {{10.1111/j.1538-7836.2011.04380_2.x}},
volume = {{9}},
year = {{2011}},
}