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The impact of prenatal diagnosis on the incidence of haemophilia in Sweden
Author(s) -
LJUNG ROLF,
Kling S.,
Tedgird U.
Publication year - 1995
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.1995.tb00066.x
Subject(s) - medicine , haemophilia , prenatal diagnosis , incidence (geometry) , haemophilia a , haemophilia b , pediatrics , pregnancy , obstetrics , demography , fetus , genetics , physics , sociology , biology , optics
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.