Checking for Down's syndrome in pregnancy

The prospect of having a baby with Down syndrome cause considerable anxiety among women, particularly those over the age of 35. There are tests available to check for this type of fetal abnormality, but they are carried out late in the pregnancy and also carry with them the risk of a possible miscarriage.

However, improvements in ultrasound and blood tests now mean that women can have effective for Down syndrome carried out earlier in the pregnancy and without any possible risks of miscarriage being induced by the test.

A major new study headed by an Irish consultant has shown that over 95% of Down syndrome cases can now be detected in early pregnancy. Results of the study published in the New England Journal of Medicine demonstrate that new ultrasound and blood tests are now widely available that can detect over 95% of cases of Down syndrome as early as 10 to 12 weeks into a pregnancy.

Over 38,000 pregnant women were provided with a range of ultrasound and blood screening tests at 10 to 13 weeks and then at 15 to 18 weeks gestation. The study found that screening in the first three months of a pregnancy provided a detection rate of Down syndrome of up to 87%, and that other combinations of screening produced a detection rate of 96%.

Traditional tests for Down syndrome, chorionic villus sampling or amniocentesis, both carry a small risk of miscarriage. Women who are interested in the reassurance that these tests provide should be asking their doctors or midwives for early access to combined ultrasound and blood tests. There are technical challenges for health professionals in performing the special ultrasounds involved properly, as measurements that are off by even a fraction of a millimetre can give very inaccurate results.

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