![]() This increased rate has been estimated at around 25% from week 14 to term. This was partly due to increasing maternal age, but was as expected because more fetuses with Down’s syndrome are lost spontaneously than those that are chromosally normal. The number of fetuses and newborn infants with Down’s syndrome diagnosed prenatally or postnatally increased in the period 2000-5, with a slight decline in 2006 (fig 2 2).). Scans for malformations in the second trimester were offered to 28% of women. The triple test was not offered to all women but was done in about 10% of the population. In 2000 the uptake of invasive diagnostic testing in women aged 35 or more was less than 50%, whereas around 20% of all pregnant women had nuchal translucency ultrasonography. ![]() According to the previous guidelines from the Danish National Board of Health, pregnant women were to be offered chorionic villus sampling or amniocentesis if they were aged 35 or more, were at increased risk of carrying a fetus with Down’s syndrome on the basis of serum screening using a triple test in the second trimester, or were at risk of an inherited disease. Women with a risk above a defined cut-off (for example, 1:300) were to be offered an invasive diagnostic procedure (chorionic villus sampling or amniocentesis). ![]() On the basis of this assessment women were to be informed about their risk (given as odds, such as 1:1250) of carrying a fetus with Down’s syndrome. 1 These recommended that pregnant women should be offered information about screening methods in pregnancy and, if desired, a combined risk assessment for Down’s syndrome in the first trimester based on a combination of maternal age, nuchal translucency scanning, and a biochemical test for serum free β human chorionic gonadotrophin and pregnancy associated plasma protein A, called the double test. In September 2004 the Danish National Board of Health issued new guidelines for prenatal screening and diagnosis. ![]()
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