Down's Syndrome test

[HappyGirl86]

Hi All,

Just had my dating scan yesterday. I was so nervous but luckily the little person was punching and kicking away which was lovely to see. I signed to have the Down's Syndrome test and the sonographer (apologies if I've spelt this wrong) was really trying to get a measure of the back of the neck/head but baby was refusing to move into the right position. She was trying so hard; tipping me back, tipping me over, nothing worked and baby even flipped on its belly as if to refuse...haha! She tried for ages. The sonographer said they can also test by a blood test at 14 weeks so as I'm 13 and 3 days I am going back next week for a blood test. She said that there is no difference in the sort of result the tests give but I just wondered if anyone else had had this experience?
I almost feel like I'm being done out of the test being done properly but maybe I'm just over thinking it!
Any advice would be great, thank you!

[GoooRooo]

I had this in my first pregnancy. I had the blood tests instead. Sometimes they just can't see the neck clearly enough.

In this pregnance I had the neck (NT) reading AND the blood tests.

[HappyGirl86]

Thanks Goorooo, it's nothing to be concerned about if they can't measure the neck clearly is it?

[PavilionGrey]

I think it depends what you would do with the results tbh. If you would continue regardless, then yes, by all means wait for the quad test at 14/15 weeks.

If you think you might terminate, then you might wish to consider alternatives as the quad test is less accurate, and in the event that a problem was found, by the time you had had CVS/amino + some time to think, your options would be very limited (you would probably be too late to have a surgical termination under a general for example)

In your shoes, I would probably opt for some form of NIPT (Harmony/Panorama etc) but it is ultimately up to you.

[PavilionGrey]

X post...no, I don't think the fact they couldn't get a clear shot is an issue in and of itself.

I'd be asking some questions about why they left you so late for the NT test though. It tests for all sorts of issues, not just Downs - I'd be quite cross if I were you and pushing for another try ASAP.

[PavilionGrey]

...if they got you in on Monday, you might just be in the window, 13 + 6 is the cutoff...

[GoooRooo]

HappyGirl no nothing to worry about in itself it's quite common and not an indication anything is wrong, just that they can't see for a clear reading.

We decided we wouldn't terminate for Downs anyway so waited for the blood test.

[contractor6]

Happy girl, don't think the movement is anything to wore about, my twelve week scan bump was flip flopping but the were able to measure and I had the blood test in addition. Good luck with pregnancy x

[LorryHen]

This happened to me as my baby was very wiggly. They got me jumping around the room and rolling over and over.... He then decided to fall asleep in the worst possible position

Anyway I had the quad test (the name of the blood test after 14 weeks) and results came back 1:100,000 and 20 week scan was fine. I'm 27 weeks now so not being able to get the nuchal measurement wasn't a indication of a problem at all.

Best of luck !

[HappyGirl86]

Thanks everyone for their replies, good to hear different experiences and opinions.
They sent me for my dating scan on Friday. I would have gone sooner but they said I didn't need to go until then. A few of my friends haven't had scans until 13 weeks either.

[Skiptonlass]

The quad test (what they will do after 13.6) isn't as reliable, just bear that in mind.

It's not anything worrying if they can't measure the nuchal fold due to wriggliness per se, (wriggly is perfectly normal) but without it, the results aren't as accurate.

[HappyGirl86]

The hospital said the quad test is only 1-2% less reliable. Now I'm wondering if they've fobbed me off.

[Skiptonlass]

How old are you? The bloods plus nuchal fold are a little over 90%, the quad is (from memory, someone correct me if I'm wrong!) 80% ish over 35 and 75% ish if under.

Basically, quad will detect 80% of babies with downs and has a 5% false positive rate.

[PavilionGrey]

Skipton lass is right, the test is way less accurate than the combined test for chromosomal abnormalities, plus it can't pick up a range of abnormalities that the combined test can (heart problems etc)

The hospital dropped the ball by allowing you to miss the window for the combined test IMO, and yes, they are now fobbing you off. 13 weeks would have been fine, but the window closes at 13 + 6 as this is when the pocket of fluid that the Nuchal Translucency test measures begins to be re absorbed by the fetus.

Fwiw, the Nuchal Fold test (checking Nuchal skin thickness at 18-20 weeks) is a completely different test from the Nuchal translucency test (measuring pocket of Nuchal fluid at 11-14 weeks). They often seem to be muddled up on mn, but they aren't the same thing at all.

[PavilionGrey]

Ah, sorry just reread, so you did have the scan in the correct window, they were still cutting it fine though, as issues like this can occur and now you are prob too late for a rescan.

Bit less clear cut in that case. No less annoying for you though. As I said, I would give some careful thought to what action you would consider in the event of a problem as this will inform your next steps...

[Artandco]

Both times I had first test around 20 weeks, nothing before. They tested for the same things as would have done earlier. We wouldn't have terminated anyway so dates didn't really matter

[PotteringAlong]

Equally, I know someone who had the nuchal fold measured, came 1:20000 and her baby was born with downs. If you want a definitive answer you need a different test anyway. All you get this way is a probability

[Skiptonlass]

Yes, they are slightly fobbing you off. I'd have been quite pissed off with their timings tbh. Our hospital gets women in between week 12-13 exactly because of this issue, so you have time to retest if the foetus doesn't cooperate on the day.


As pps have said, these are screening tests - they give you a probability, not a definitive result. If you want more accurate results you have two options: a nipt (non invasive prenatal testing) test like harmony, or an actual diagnostic test like amnio/cvs

The nipt has no risk to you or the baby, the amnio/cvs has a small but real risk of miscarriage. We had a test like harmony done and it was (for me) money well spent.

how you proceed is up to you and of course depends on your own feelings about what you would do if tests did reveal an issue. If youd carry on with the pregnancy even if tests picked something up, then it's a moot point.

Personally, I'd have the quad test anyway, and I'd certainly be mentioning to your midwife that you're not pleased you've missed the nuchal test window. If the quad comes back as anything other than low risk, you could have the nipt done. Again, it is technically a screening test but it is over 99% accurate. If there's any doubt there/intermediate result then you could go for the amnio.

[HappyGirl86]

Skipton lass, I'm 29