Screening for Down's syndrome

Staff profile block: 

Irene Miotto

Lead Midwife for Antenatal and Newborn Screening
Irene Miotto

It’s really special when parents who you’ve been supporting bring their babies in to visit us when they are born, or send cards.

Information about non-invasive testing

We are aware that testing of maternal blood to establish whether a baby has Down's is being offered privately in the UK.

Women should be aware that the place of non-invasive testing for Down’s Syndrome is not yet clear and is currently the subject of a large UK study in women undergoing amniocentesis and chorionic villus sampling (CVS) - called the RAPID Study.

We have no doubt that non-invasive screenings will become very important in the next few years, but as yet there is insufficient information to recommend its use. The following information sets out why:

  • The non-invasive test is a screening test and its accuracy is not yet considered to be sufficient to be used as a diagnostic test.
  • This means that if you have had a high risk screening result, and a negative result (in other words 'your baby does not have Down’s') from the non- invasive test, there is still a small chance that your baby could have Down’s.
  • It also means that a positive test (in other words 'your baby does have Down’s') would have to be checked by an amniocentesis or CVS
  • There is also a small risk that baby could have a chromosome abnormality that is not Down’s as the non-invasive test do not currently check for other chromosome abnormalities.

It is for this reason that we strongly recommend that whether or not you have the non-invasive test, you do come for a detailed scan here and discussion about whether it is appropriate to do an invasive test (CVS or amniocentesis).

The non-invasive form of testing is very new, and there is currently no guidance available from national bodies such as the National Screening Committee. We therefore felt it important for women to have some information from us. We would be very happy to discuss any of these issues further if you are in any doubt about what to do.

Contact the fetal medicine department

Tel: 01223 216 185

  

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