Friday, 7 June 2013

Down Syndrome testing

Did you know? Roughly 750 babies are born with down syndrome through the UK each year.

 Downs syndrome is caused by an extra copy of chromosome 21. This occurs purely by chance.

Women can have an optional blood test at 14 weeks 2 days to 20 weeks to decipher their chances of having a baby with downs syndrome. Once they're given an estimate, such as 1 in 100 or 1 in 600 chance that the 

Women are then given the option for more tests. 

They can either have a Chorionic villus sampling (CVS) involves testing a small sample of the placenta, or an amniocentesis test, which analyses the amniotic fluid around the baby. These tests are risky and have have a 1 in 100 rate in miscarriage


Prof Kypros Nicolaides, who is the leading researcher has developed a new, safer and more accurate way of testing. This will enable women to know whether they have a 99% chance, or less than one in 10,000 that their baby has Down's syndrome, which is remarkable.

This now gives women more choice in regards to their unborn baby. The next steps to take are undoubtedly in the hands of the mother.

Unfortunately, these tests cost £400 a pop. Due to the expense the NHS are not covering this test as of yet for all women. Prof Nicolaides is running a prospective study over the next two years withing the NHS with over 20,000 women. 

This test is available privately, but hopefully with time the cost will fall and it will become available on the NHS. 

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For any questions on this topic please email our midwives on

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