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Confused about Down Syndrome/Edwards testing

4 replies

ml01omm · 07/01/2020 19:26

Sorry for the cross posting but I am confused and really need some answers.

I have just had my midwife booking in appointment, and I am confused about the screening for Down Syndrome.

The Midwife has said that they will only do the test at my 12 week scan. They will take the blood test and do the scan all on the same day.

Then, assuming I am high risk, I assume I'd go on to have the amneosentis (sorry for spelling) to confirm.

In this case, at 12 weeks I would be too late to have the NIPT/Harmony test? Does the NIPT test replace the amenosentis, or is it just a more accurate/less invasive version of the NHS initial blood test and scan?

I want all the screening, but want to try and make it as least invasive as possible.

Should I pay to have NIPT ahead of my NHS tests? Or would I still have to have an amneosentis regardless of whether I was high risk per NIPT or per NHS?

OP posts:
Johnson10 · 07/01/2020 19:39

NIPT doesn’t replace the amino. NIPT is non invasive & doesn’t carry a risk or miscarriage like the CVS or amino.
NIPT is a lot more accurate then the NHS testing method - 99% I think! But only an invasive test is 100%. Depends what tour NHS risk score is, whether you feel further testing is necessary. NIPT can be done from 10w until full term. I had this last week. Currently waiting results! X

Nanmumandmidwife · 07/01/2020 23:09

If you can, I would suggest wait and have the combined test (standard NHS test) first. If that gives a "high chance" result you are able to have additional testing paid for by the NHS. CVS/Amniocentesis is always offered (which one is decided by exactly how many weeks you are). In some hospitals you will also have the choice of NIPT.
If your hospital don't offer NIPT you could consider having it done privately if you get a concerning result from the combined test.
The differences as PP says are that invasive test is diagnostic (definite), NIPT is a sophisticate screening test (almost definite). Invasive test has chance of miscarriage, NIPT does not.
There is great info here www.arc-uk.org/tests-explained

User3billion · 08/01/2020 17:10

NIPT testing is another screening test & not a diagnostic. It's also not always 99% accurate either - there's a lot of factors involved & some research which is currently being undertaken shows it can be as less than 50% accurate.

Sanjai529 · 15/01/2020 08:06

Hi, I just wanted to ask regarding the above post. I had my 12 week scan yesterday and although everything was well with the baby they were unable to do the nuchal scan and get the measurements because the baby was in the wrong position.
This made me anxious as my sister in law has downs syndrome and I have been told that the quad blood test I will have at 16 weeks instead isn’t as accurate.
I want to be able to prepare myself and I know I will worry all the way to my 16 weeks before the blood test is done.
Can I ring my midwife and ask to be re scanned? I am currently 13 weeks and 1 day so the scan will have to be done sometime this week as to my knowledge it has to be done before 14 weeks?
Any help would be amazing as I am driving myself crazy worrying about it!
I have spoken to some of my friends and they said they were told if baby wasn’t behaving they would be asked back but we didn’t get that option?
Thanks so much
Alayna x

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