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Prænatal diagnostik af kromosomsygdomme efter indførelse af risikovurdering for Downs syndrom

Forfatter(e)
Afdelingslæge Susanne Kjærgaard, afdelingslæge Johanne M.D. Hahnemann, overlæge Lillian Skibsted, overlæge Lisa Neerup Jensen, overlæge Lene Sperling, overlæge Helle Zingenberg, overlæge Anette Kristiansen & professor Karen Brøndum-Nielsen Kennedy Centret, Glostrup Hospital, Gynækologisk-obstetrisk Afdeling, Gentofte Hospital, Gynækologisk-obstetrisk Afdeling, Herlev Hospital, Gynækologisk-obstetrisk Afdeling, Roskilde Sygehus, Gynækologisk-obstetrisk Afdeling, og Næstved Sygehus, Gynækologisk-obstetrisk Afdeling,
Reference: 
Ugeskr Læger 2008;170(14):1152-1156
Blad nummer: 
Sidetal: 
1152-1156
Summary Prenatal diagnosis of chromosome aberrations after implementation of screening for Downs syndrome. Ugeskr Læger 2008;170(14):1152-1156 Introduction. First trimester screening for Down's syndrome was evaluated by the National Board of Health in 2004, and recommended to all pregnant women in the form of an informed choice. We have reviewed prenatal and postnatal chromosome aberrations in 3 counties in Denmark during the years of implementation in 2004, 2005 and 2006. Materials and methods. Risk evaluation based on combined screening (fetal nuchal translucency measurement and serum screening of the pregnant woman) was introduced in the counties of Copenhagen, Roskilde and Storstrom, covering approximately 1.1 million inhabitants. We registered the number of chorionic villus biopsies (CVS) and amniocenteses (AC), as well as the number of cases with trisomy, triploidy and sex chromosome aberrations found prenatally. We also registered the number of children born with Downs syndrome during the period. Results. The number of CVS/AC decreased from 1382 to 790, or 40%. There was an increase in the number of foetuses diagnosed with trisomy 21: in 2004 trisomy 21 was diagnosed in 12 foetuses, in 2006 the number was 30. The number of children born with Downs syndrome was 10 and 5 in 2004 and 2006, respectively. National figures from the Danish central cytogenetic registry confirm a decrease in children born with Downs syndrome. Conclusion. The implementation of combined screening in 3 counties resulted in a reduction in invasive procedures (chorionic villus samples and amniocenteses) by 40%, which is in accordance with the aims of the National Board of Health. As expected, a significant increase in the number of prenatally diagnosed foetuses with trisomy 21 was observed. The number of children born with Down syndrome decreased, but the numbers are small. The investigation does not review aspects of organisation or counselling and psychosocial issues.
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