I had my 12 week scan (at 13 weeks) on Monday. The Nuchal Translucency was high 6.4 mm and combined with the blood test our risk of Down Syndrome is low 1:10000 but our risk of Patau's or Edward's is as high as it could be 1:2.
I am 37 years old, so I realise I am at increased risk.
Has anyone ever had such high risk results and it has gone on to be a low risk result following further scans, Nipt or amnio?
How accurate is the NHS combined test?
Hoping for a miracle but expecting the worst.
Thank you x
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AracLl
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First of all congratulations 🥳 on your bundle of joy - really really happy for you 😊Combined screening is not as accurate as the NIPT blood test or you can be invasive and have the amniocentesis… that’s the thing, the choice is yours. Both are more accurate than the NT screening.
I know a few people have had a large NT measurement where they’ve been scanned by a consultant and the measurement was of normal measurement x
I'm sorry this is so stressful.. If you decide to go for genetic testing - which gives you the most certainty without the risk of amniocentesis- I'm happy to recommend the clinic in London that did mine. Took 6 working days and it included various scans. Good luck! ❤
You should be offered NIPT on the NHS given the high risk identified on your 12 week scan. Have they not offered you this (or amniocentesis)? You can get NIPT done privately, usually for under 500 quid, but in your case it should usually be available on the NHS.
I'm sorry they have flagged a high risk for an abnormality and really hope you get some more helpful answers xx
Yes my baby had NT of 9.5mm. Wasn’t given a positive outcome at all. However they done a chromosome test ( took sample from the placenta and was proved not to have any chromosome issues at all. I then had loads of extra and specialized cardiac scan for the baby and every time everything came bk normal. He is now a healthy 10 month boy. He does have a slight extra skin behind his neck but disappearing as he grows. Still to this day not sure what the cause was. My guess was that his lymphatic system was still catching up. My advice don’t google as I found nothing positive and I was googling every day. In the end I just prayed that he would be fine
The Harmony test (a simple blood test+ultrasound) is more accurate than the NHS 12 weeks combined scan (an NHS nurse told me this). It costs around 500 pounds. I read that if they need to carry out a further examination, the same clinic will offer you the amniocentesis exam for free (I am not sure about the latter). There are a few clinics in London and spread around the country that offers it. Apart from this, there is also the amniocentesis exam through the NHS. I noticed that in the UK this exam is regarded as 'invasive' and dangerous, etc. However, my cousin did for her 3 children (even if the ultrasounds were normal) and my mother-in-law did the same for her 3 children in the 80's in London. And many congratulations!!!!
Hey AracLl, I’m sorry to hear you’re having such a stressful time. There’s been a few women on here with high NT readings. A friend through NIPT and detailed scans and then opted for CVS testing (similar to amniocentesis but used to extract cells in the placenta - think it can be performed at earlier point) and all came back completely fine in the end. So it can definitely happen. Hang in there and try and stay as positive as you can til testing. Xx
Hi AracLl sorry to hear that your NT has come back bigger than you hoped. I had a normal NT measurement at 12 weeks but my blood results along with my age (37) gave me a high risk result. Therefore I had the NIPT blood test done through the hospital and NHS and that came back low risk. I think there are a lot of false positives and a lot of it is linked to age. However I understand with that scan result you will be more anxious. It seems so unfair when we have finally beaten the odds to reach the 12 weeks stage and then a scan comes back ‘abnormal’, you wonder when will you get a break. Definitely speak to the maternity ward, there should be a specific midwife who does the NIPT tests and can answer all the questions you might have. Personally I wasn’t willing to go down the amnio route, but it’s a very personal choice. Wish there was more we could say/do. But def hang onto the positive stories on here from other women. Big hugs xx
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Very low AMH story of hope: 12 week scan update *sensitive* 
** sensitive ** 12 week scan 
SENSITIVE 12 weeks scan 
Not the best 12 week scan. 
