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Perinatal aspects of haemophilia

Economou, Marina; Banov, Laura and Ljung, Rolf LU (2014) In European Journal of Haematology 93. p.21-25
Abstract
Haemophilia is an X-linked recessive genetic disease of haemostasis. Women carriers may present with a bleeding tendency similar to milder forms of the disease. Haemophilic newborns present risk factors and patterns of bleeding that are challenging. Identification of carriers and genetic counselling before conception is considered optimal to help decide on available conception options and during pregnancy to help minimise bleeding risks for both carrier mother and affected baby. Preimplantation genetic diagnosis is attractive to many couples at risk of having a child with haemophilia and relevant technology is becoming more available although it has both practical and ethical limitations. Pregnancy in carriers should be managed by a... (More)
Haemophilia is an X-linked recessive genetic disease of haemostasis. Women carriers may present with a bleeding tendency similar to milder forms of the disease. Haemophilic newborns present risk factors and patterns of bleeding that are challenging. Identification of carriers and genetic counselling before conception is considered optimal to help decide on available conception options and during pregnancy to help minimise bleeding risks for both carrier mother and affected baby. Preimplantation genetic diagnosis is attractive to many couples at risk of having a child with haemophilia and relevant technology is becoming more available although it has both practical and ethical limitations. Pregnancy in carriers should be managed by a multidisciplinary team in a comprehensive treatment centre. The optimal mode of delivery for carriers expecting a baby known to have or being at risk of haemophilia is an issue of great debate. The general consensus among authors is avoidance of instrumental delivery, foetal scalp electrodes and blood sampling in pregnancies at risk of carrying an affected foetus, as well as early recourse to Caesarean section as guided by obstetric indications. Intracranial haemorrhage, although infrequent, is one the most devastating types of bleeding in haemophilic newborns and can occur regardless of the mode of delivery or the severity of haemophilia. Early screening is proposed for all infants with severe or moderate haemophilia who have had traumatic delivery and/or have evidence of extracranial haemorrhage. Women with postpartum haemorrhage should have a bleeding work-up. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
haemophilia, carrier, pregnancy, neonatal, intracranial haemorrhage
in
European Journal of Haematology
volume
93
pages
21 - 25
publisher
Wiley-Blackwell
external identifiers
  • wos:000338019900004
  • scopus:84902959327
ISSN
1600-0609
DOI
10.1111/ejh.12371
language
English
LU publication?
yes
id
e9321c04-6e96-416a-8137-387ab81e67b3 (old id 4608857)
date added to LUP
2014-09-01 07:38:06
date last changed
2017-04-30 04:40:42
@article{e9321c04-6e96-416a-8137-387ab81e67b3,
  abstract     = {Haemophilia is an X-linked recessive genetic disease of haemostasis. Women carriers may present with a bleeding tendency similar to milder forms of the disease. Haemophilic newborns present risk factors and patterns of bleeding that are challenging. Identification of carriers and genetic counselling before conception is considered optimal to help decide on available conception options and during pregnancy to help minimise bleeding risks for both carrier mother and affected baby. Preimplantation genetic diagnosis is attractive to many couples at risk of having a child with haemophilia and relevant technology is becoming more available although it has both practical and ethical limitations. Pregnancy in carriers should be managed by a multidisciplinary team in a comprehensive treatment centre. The optimal mode of delivery for carriers expecting a baby known to have or being at risk of haemophilia is an issue of great debate. The general consensus among authors is avoidance of instrumental delivery, foetal scalp electrodes and blood sampling in pregnancies at risk of carrying an affected foetus, as well as early recourse to Caesarean section as guided by obstetric indications. Intracranial haemorrhage, although infrequent, is one the most devastating types of bleeding in haemophilic newborns and can occur regardless of the mode of delivery or the severity of haemophilia. Early screening is proposed for all infants with severe or moderate haemophilia who have had traumatic delivery and/or have evidence of extracranial haemorrhage. Women with postpartum haemorrhage should have a bleeding work-up.},
  author       = {Economou, Marina and Banov, Laura and Ljung, Rolf},
  issn         = {1600-0609},
  keyword      = {haemophilia,carrier,pregnancy,neonatal,intracranial haemorrhage},
  language     = {eng},
  pages        = {21--25},
  publisher    = {Wiley-Blackwell},
  series       = {European Journal of Haematology},
  title        = {Perinatal aspects of haemophilia},
  url          = {http://dx.doi.org/10.1111/ejh.12371},
  volume       = {93},
  year         = {2014},
}