Advanced

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)
Please use this url to cite or link to this publication:
author
organization
publishing date
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
pages
1 pages
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
conference name
XXIII Congress of the International Society on Thrombosis and Haemostasis
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
2016-12-07 10:04:21
@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.},
  articleno    = {P-TU-492},
  author       = {Ljung, R. and MÅRTENSSON, ANNIKA},
  issn         = {1538-7933},
  keyword      = {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    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  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},
  volume       = {9},
  year         = {2011},
}