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Early Down’s syndrome screening not available here

The BBC reports that pregnant women in Wales are still waiting for access to a screening test two years after it was recommended.

The National Institute for Clinical Excellence (Nice) said in its revised guidelines in June 2008 that all pregnant women should be offered, on the NHS, a combined scan and blood tests for foetal chromosomal problems. But currently, women are only offered a different blood test after 15 weeks.

The recommended test is a specialised ultrasound scan checking for raised levels of fluid at the back of the foetus’ neck, which can indicate chromosomal abnormalities such as Down’s or Edward’s syndromes. It is done alongside a blood test which looks for raised levels of certain proteins and hormones, which can also suggest a problem. It has to be carried out between 11 weeks and 13 weeks plus six days of a pregnancy.

The Welsh Government say that subject to the development of the plans and availability of funding, they aim to deliver the screening from April 2011.

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  1. senn says

    In my own opinion, I hope they do not offer the screening as an indication of either Down’sor Edward’s syndrome which could lead to Abortion and Wales has the highest Abortion rate in the UK without adding to it

  2. Dr. Christopher Wood says

    So it’s not actually a chromosomal test that we are talking about. Meaning, the words “a combined scan and blood tests for fetal chromosomal problems” is not a combined chromosomal test at all. In fact we are dealing with probabilities and quite a bit of human subjectivity. Meaning, some mothers will abort a perfectly healthy baby because there was no direct chromosomal test done. There is of course a chromosomal test, but it’s risky. I remember when I worked as a path lab technician (called a more fancy name now) the hospital where I worked in London processed collected blood samples. It was pretty much well know that it was a very risky procedure and otherwise perfectly healthy babies were seriously injured – a pin-prick to you or me or any adult is not a big deal (assuming normal blood clotting reaction), but for a developing baby – it’s a BIG MASSIVE PROBLEM with, for example, deformed appendages the end result. So be careful what you wish for. Healthy babies will be aborted – it’s a statistical thing.
    PS I am a scientist not a medic, and I remember my mum telling me that I was X-rayed while in her womb – it was a standard procedure ‘back then’ – mothers were told it was harmless – yeah right, mostly harmless to the mother, quite a different thing to the developing rapid cell dividing fetus in the mother’s womb. To some extent medicine moves forward based on errors. Liberal use of X-rays yesterday v. liberal use of ultra-sound today – what will tomorrow teach us?

  3. Dr. Christopher Wood says

    PS … the chromosomal ‘blood test’ involved collecting a sample very close to the developing fetus. It was a dangerous procedure because of the risk of contact with the baby’s body or more likely with one of their developing limbs – meaning a pin-prick could have incredibly bad consequences for the baby inadvertently pin-pricked. The sample was stained on a slide in the lab and the individual chromosomes of the baby examined for the tell tail chromosomal abnormality for Down’s syndrome. The blood test today? Mother’s blood examined for tell-tale proteins etc. Not an ideal test, it is way below 100% accurate hence the need for a specialized ultrasound scan and a probability finding. It’s not 100% accurate. Far from it. “Be careful what you wish for.”
    Christopher Wood, PhD not MD