Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study

  • Ekelund C
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Abstract

The objectives of the study were to evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates in the screened population in 2005 and 2006. The design was a population based cohort study. The setting was 19 Danish departments of gynaecology and obstetrics and a central cytogenetic registry 2000-7. The participants were 65,000 pregnancies per year. Primary outcomes measured were number of fetuses and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants with a postnatal diagnosis of Down's syndrome. The results were, the number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7,524 in 2000 to 3,510 in 2006. The detection rate in the screened population in 2005 was 86% (95% confidence interval 79% to 92%) and in 2006 was 93% (87% to 97%). The corresponding false positive rates were 3.9% (3.7% to 4.1%) and 3.3% (3.1% to 3.4%). The conclusion was the introduction of a combined risk assessment during the first trimester at a national level in Denmark halved the number of infants born with Down's syndrome. The strategy also resulted in a sharp decline in the number of chorionic villus samplings and amniocenteses carried out, even before full implementation of the policy. Cites five references. [Journal abstract]

Author-supplied keywords

  • Antenatal care
  • Cohort studies
  • Denmark
  • Downs syndrome
  • NHS
  • Pregnancy screening
  • Screening programmes

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Authors

  • Charlotte K Ekelund

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