NT 5.4 mm 4th pregnancy given 1/9 chance of ds

[MrsKate]

Hi I’m 36 and this is my 4th pregnancy I’m 13 weeks I went for scan and NT measurement was 5.4 mm and blood test result given a a risk of 1/9 for DS I’m not coping well as struggle with anxiety and depression etc .i have amniocentesis booked on the 26th aug .anybody been in a similar situation xx

I haven’t been in this situation but I’m a similar age and pregnant. I haven’t had the scan yet. But I’m planning to have the Harmony test privately which is a non-invasive blood test which can detect DS and other conditions. It’s around £400. Is this an option for you?

Sorry to hear what you're going through OP, it's truly an awful time.
I've been in a similar position and have just had my amniocentesis and waiting for a result. I was given high risk on the combined test for Edwards syndrome and was then offered NIPT through the nhs - another blood test but this time they look for fetal DNA in the mother's blood. Takes about a week for results to come through.
It is very accurate for detecting DS, however, is still only a screen and the result will tell you if you are at low risk or high risk. It is not a diagnostic test.

I was told that if the risk is low, you can rest assured and not have any further diagnostic. If the risk comes back high, you really need to have amniocentesis/CVS to get a definitive answer.

I would suggest having the NIPT - you'll read many stories here of high risk combined tests turning out to be low risk on the NIPT. Obviously that's not the case for everyone, but don't lose hope just yet.

@MrsKate You are in a very difficult place & the next few weeks will be tough for you and your family. Because the NT is raised (above 3.5mm), NIPT would not be the investigation recommended for you. NIPT is mainly used as an advanced screening test for Downs, Edwards and Patau syndrome, but other chromosomal issues can occur which can’t be checked for by NIPT.

If the amino gives a normal result you should be offered a specialist heart scan for your baby, as a raised NT can also be an indicator for a structural heart issue.
There is some useful info on this website yourmidwife.org.uk/antenatal-screening-tests/increased-nuchal-translucency-nt/
Sending you love x

I got my results today from bloods and we are high risk with a 1 in 8 chance.

They were unable to get the measurements as my scans so I had a quad test last week. I have been a bit in shock all day and I don't know what to do from here.

My second child was stillborn so I am monitored more regularly. I'm currently 17 weeks, I think we are going to have the test but I'm also terrified of it causing a miscarriage, I know the stastics are low but stastics seem to follow me and I'm feeling lost.

I hope your test goes well, does anyone know how long the results take to come back?

@lareid life is horribly unfair. I am so sorry for your loss. Did they see anything unusual on your scan? Even though they couldn’t get an accurate measurement they will have been able to comment weather the NT looked usual or unusual. If normal appearances, NIPT could be worth considering. Have your hospital mentioned that?
NIPT results usually take about a week (sometimes less). Invasive test results are usually around 3 working days.

@Sussexmidwife thank you for your reply.

At my first scan I was 11 and 5 and they said the baby was too small to do the check.

I then had a scan the following week under the rainbow clinic (my first with them) and they said if the baby was in the same position they will be unable to do the checks but not to worry as they can do a Quad test at 16 weeks. I had a scan the next day with the normal scan department and the baby was in an awkward position that they just couldn't get it, she had be go for a walk to try and move it but no luck so they didn't mention anything about if the NT looked unusual or not.

I was then scanned at 15 weeks and they said everything looked OK but again baby was awkward. I have had 5 scans between 9 weeks and 15 and not one has been a good scan picture to bring back for my husband as he can't attend any.

I got the quad results yesterday and I already had a scan booked in today with my consultant so I guess I will talk everything through there.

Is the NIPT the non invasive private blood test? We have looked into it but if the results came back likley we would then go for the amniocentesis test which although does have its risks will give us a definite answer.

I'm so scared, I've not been able to sleep and I feel sick. 1 in 8 just seems really high and I don't know what I would do if it does come back with positive results.

x