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The impact of prenatal diagnosis on the incidence of haemophilia in Sweden

LJUNG, ROLF LU orcid ; Kling, S. LU and Tedgård, Ulf LU (1995) In Haemophilia 1(3). p.190-193
Abstract

Summary A demographic survey was made of all children (n= 137) born with severe or moderate haemophilia in Sweden during the period 1970‐92. Bn addition, all prenatal diagnoses (n= 86) performing during the period were evaluated. The annual incidence of severe and moderate haemophilia, having remained constant for decades, increased from 0.78/10,000 males in the 1970s to 1.34 in the 1980s, levelling off at 1.31 in the 1990s. Although prenatal diagnosis did not affect the incidence of haemophilia in the 1970s and 1980s, it did so in the 1990s, because the incidence would have been 40% higher (1.83) had not prental diagnosis been available and 16 affected fetuses been aborted. The average proportion of sporadic cases, 62%, remained almost... (More)

Summary A demographic survey was made of all children (n= 137) born with severe or moderate haemophilia in Sweden during the period 1970‐92. Bn addition, all prenatal diagnoses (n= 86) performing during the period were evaluated. The annual incidence of severe and moderate haemophilia, having remained constant for decades, increased from 0.78/10,000 males in the 1970s to 1.34 in the 1980s, levelling off at 1.31 in the 1990s. Although prenatal diagnosis did not affect the incidence of haemophilia in the 1970s and 1980s, it did so in the 1990s, because the incidence would have been 40% higher (1.83) had not prental diagnosis been available and 16 affected fetuses been aborted. The average proportion of sporadic cases, 62%, remained almost unchanged during the study period, suggesting mutation rates to be constant. There were fewere children in families with known haemophilia than in sporadic families, but no evidence was found to suggest that the frequency of female offspring (i.e. potential carriers) born in haemophilia families had increased since the option of prenatal diagnosis was introduced.

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author
; and
organization
publishing date
type
Contribution to journal
publication status
published
keywords
epidemiology, factor IX, factor VIII, haemophilia A, haemophilia B, prenatal diagnosis
in
Haemophilia
volume
1
issue
3
pages
190 - 193
publisher
Wiley-Blackwell
external identifiers
  • scopus:84980304661
ISSN
1351-8216
DOI
10.1111/j.1365-2516.1995.tb00066.x
language
English
LU publication?
yes
id
e2804b77-9926-4d5b-a6f7-b46c3fb423b0
date added to LUP
2016-11-25 15:41:17
date last changed
2021-09-19 05:02:22
@article{e2804b77-9926-4d5b-a6f7-b46c3fb423b0,
  abstract     = {{<p>Summary A demographic survey was made of all children (n= 137) born with severe or moderate haemophilia in Sweden during the period 1970‐92. Bn addition, all prenatal diagnoses (n= 86) performing during the period were evaluated. The annual incidence of severe and moderate haemophilia, having remained constant for decades, increased from 0.78/10,000 males in the 1970s to 1.34 in the 1980s, levelling off at 1.31 in the 1990s. Although prenatal diagnosis did not affect the incidence of haemophilia in the 1970s and 1980s, it did so in the 1990s, because the incidence would have been 40% higher (1.83) had not prental diagnosis been available and 16 affected fetuses been aborted. The average proportion of sporadic cases, 62%, remained almost unchanged during the study period, suggesting mutation rates to be constant. There were fewere children in families with known haemophilia than in sporadic families, but no evidence was found to suggest that the frequency of female offspring (i.e. potential carriers) born in haemophilia families had increased since the option of prenatal diagnosis was introduced.</p>}},
  author       = {{LJUNG, ROLF and Kling, S. and Tedgård, Ulf}},
  issn         = {{1351-8216}},
  keywords     = {{epidemiology; factor IX; factor VIII; haemophilia A; haemophilia B; prenatal diagnosis}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{190--193}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Haemophilia}},
  title        = {{The impact of prenatal diagnosis on the incidence of haemophilia in Sweden}},
  url          = {{http://dx.doi.org/10.1111/j.1365-2516.1995.tb00066.x}},
  doi          = {{10.1111/j.1365-2516.1995.tb00066.x}},
  volume       = {{1}},
  year         = {{1995}},
}