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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Why I can't find advanced hereditary disease screening in UK?

1 reply

LauraPan · 28/10/2019 20:57

Hello,
I am Italian and I wanted to take a antenatal test. At the beginning I noticed there are the harmony and variants (top on that of the NHS). But then I called an Italian friend that is a geneticist and told me about one called Genesafe (a bit expensive) that is far more advanced and covers things like cystic fibrosis... The thing is, I can find how to have it in Italy, Spain but not here... why is this? Do you know of a similar one? Or are there laws forbidding such testing?

OP posts:
JoanieCash · 28/10/2019 21:21

I don’t know with certainty the answer to your question but suspect Single gene NIPT is very new and tests need careful interpretation and probably not wise without genetic counselling first. For example there are so many different cystic fibrosis disease causing mutations, but the test probably only screens for the more common ones etc, or may not be very sensitive, or with false positive/negative results too, which may cause you excessive anxiety or to even terminate a healthy fetus etc. You could contact the company and ask which clinics in UK send them samples and then see someone (they may not tell you). It may be better to stick with tests where everyone aware of its limitations then seeking out a new test where less is known. Or go and see your friend/colleague in Italy.

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