Down syndrome screening risk came back as 1 in 174 UPDATE

[Gym knickers]

I'm so upset. I originally didn't want the test as my midwife friend told me they cause uneccesary worry but I did with my daughter so thought I should do the same this time. Results took 4 weeks and when I rang they said the woman who sends letters is off sick but if there was any need to worry they would have rang.
I phoned again today and they said they'd tell me on phone as results were there- 1 in 174 which she said was screen negative. 1 in 150 is screen positive so I am right on the cusp!!! I am only 29 and result with my dd was 1 in 14560. I'm so worried and scared. Midwife says they don't advise amino as technically classed as low risk but it's so high! I'm worried sick. I don't want amino if I can avoid it, and wouldn't terminate but I'm terrified of 2 under 2 with learning difficulties also

 

[LuxAeterna]

That's a low risk, and a screen negative risk profile (it varies -- it was 250 at the MFM practice with my youngest). I wouldn't worry about it. Perhaps you can address your concerns with your midwife before having the level II ultrasound that way they can hopefully rule out markers for Ds.

 

[kmumtobe]

Hi, our downs results came back at 1:45 based on the nuchal fold alone (3.5mm, im 27), my bloods were clear and being classed high risk we've had a heart scan which has come back clear too. We are waiting it out for our 20 week scan to see if they can see any soft markers. We've said we will only do an amnio if they find anything else of concern which so far they haven't. Your risk works out at a 0.57%.. I know how easier said than done it is but try not to worry yourself, if someone gave you that risk for anything else in life you'd turn a blind eye 'well that wont happen'. Obviously yes there is a chance but it is still very minimal. You must be very close to your 20 week scan now? They will look for things like thigh bone length, nasal bone, heart defects.. things which when put together can be signs of downs. Please try keep calm till you've had these checks, there's a 99% chance your baby is fine and there always a risk of anything in pregnancy/having a child

 

[Hellymay83]

Mine came back as 1 in 180 my midwife told me that anything over 1 in 150 is classed as low risk, I'm 30.. I was initially worried but my midwife told me it's still low...

 

[petitpas]

There is a non-invasive blood test you could have that gives you a yes/no answer but it is not yet available on the NHS and costs around £400. If you have the money it might be worth it to stop you worrying.
This is one of the clinics that carry out the test:
https://www.thisismy.co.uk/nipt-non-invasive-prenatal-testing/?gclid=CLmt19_-6L8CFW-WtAod7ycAwg

As the other ladies have said, you are still not considered high risk but I totally understand that you might be anxious

 

[Christinee]

I had that test when i was pregnant with my daughter. I was a nervous wreck my entire pregnancy because of it! (i turned down amniocentisis)... she turned out to be fine and is very smart.

 

[Gym knickers]

Thanks everyone, I really wasn't expecting this. I know nhs classes it as low risk but it seems incredibly high especially considering my age. I don't think I could risk an amino but don't think I could afford that test either. I just feel sick with worry. My 20 week scan is on Thursday. I just need to get there now and see what that brings. Had a scan at 13w5d and all was perfect. She said nasal bone present and nt under 2.0 all measurements were fine. I think that's why I felt so confident but now feel like the next 20 weeks will be agonising. We will love and want this baby no matter what but I am really scared!

 

[Claire788]

I went to thisismy, and my Chromosomal testing was £295.00 basically for a yes, no answer one way or the other. I'd def recommend it for peace of mind (maybe whip round time with the family!!)

 

[Bmama]

You can get non-invasive blood tests as the other women stated, they analyze the fetal cells so are 99.9% conclusive. Some are the panorama, Materni21.

I know it's easier said than done but try not to stress too much about it, and if it helps you have peace of mind get the blood tests done. Your risk is technically low so I wouldn't worry

 

[Feronia]

That's only a 0.574% chance of down syndrome! Very low odds!

 

[dae114]

I had the quad screen done in my first pregnancy. I was 25, and it came back as a 1:14 positive screen for Down syndrome. I was devastated but too scared to do amnio, as it carries a miscarriage risk. I decided to do the maternity 21 test, a blood test that can check for Down syndrome and is much more accurate. It ended up that my son was fine, and he is now a healthy a healthy 22 month old. I am 6 months pregnant with my second, and this time I skipped that awful quad screen altogether and did something called the panorama test, which is similar to the maternity 21. The quad screen and others like it have a rather high rate of false positive results, and even though your results aren't technically classified as positive, I can imagine the stress you are going through. Best of luck and chances are your baby is completely healthy!

 

[ChocLover]

my Harmony test showed me at low risk (<1 in 10,000) but I MAY have a secondary marker for Downs (nasal bone present - but not as developed as it should be) ... but its not clear (it was fine on one scan pic - and not fine on the other two - so not clear if its just an ultra sound tech error or the baby's hand casting a shadow etc) so I have to go back next week for a free second scan.

IF the second scan shows the marker is definitely present - I would probably still have the amnio - even though, because of the Harmony result - I'd still be low risk. That's just my choice though. I don't see the miscarriage risk (1 in 200 for the amnio alone without CVS) as that high and it doesn't scare me that much. Whereas .. an uncertainty with Downs .. I would just rather know.

Even if the marker is present next week - they wouldn't advise an amnio - but they will offer it because, as they say, I'm the one who takes home the baby. And I'll do it - yes, you wouldn't want to miscarry a healthy baby - but look.. the normal base rate for miscarriage is 2% anyway throughout your pregnancy .. I'd just rather know when the info is out there available for me to know.

So.. in your shoes - I would do the amnio. But if aborting is absolutely not an option then there's much less reason to do the amnio. The main reason then becomes certainty and peace of mind. But the value of those things are not to be underestimated!

 

[petitpas]

Choclover, I'm confused. I thought the harmony test gave yes/no results, not risk numbers?

 

[ChocLover]

Afraid not .. I wish it did but only the amino or CVS can give you that. If you are high risk then you will get back a "positive" on Harmony. Otherwise you get low risk and a number. It's meant to be insanely accurate - in that if low risk it's on the rarest of cases that your child does have Downs .. But it's not 100 per cent accurate.

 

[Gym knickers]

Hi ladies,
Thank you all so much for your responses. I had my 20 week anomaly scan today and baby is looking perfect. I spoke at length with a midwife in antenatal afterwards and she made me feel a lot better. She said that since 50% of babies with Down's syndrome are picked up at scans then technically my risk is now halved again. She also have me loads of reassuring statistics and explained how results work and why the cut off is 1 in 150. Had a big cry and still feeling a bit anxious but I'm
Going to try and put it behind me now. I wouldn't ever terminate and this baby will be adored always so just thinking positive xx

 

[LadyHutch]

I was 35 years old and my son came back 1:89 risk. He's just fine. This one, I am 38, and had a harmony. Haven't gotten the results of that yet, but based on NT, risk is very low.

I wouldn't sweat it. 1:174 is very, very low risk.

 

[Bmama]

Just wanted to add- my quad screen results gave me a 1:10 risk for trisomy-18. I wen to visit a specialist this week, thinking I was going to have an amnio, and he told me the center that anaylzed my results miscalculated my risk ratio! It's so hard not to think about the results you are given, but they only paint a one-sided picture and drs certainly can make mistakes. Usually Drs can pick up soft markers for chromosomal abnormalities on an ultrasound, so it's absolutely wonderful news that your baby looked perfect on the ultrasound! Sending some your way, I know how stressful these tests can be!

 

[Gym knickers]

Just wanted to add- my quad screen results gave me a 1:10 risk for trisomy-18. I wen to visit a specialist this week, thinking I was going to have an amnio, and he told me the center that anaylzed my results miscalculated my risk ratio! It's so hard not to think about the results you are given, but they only paint a one-sided picture and drs certainly can make mistakes. Usually Drs can pick up soft markers for chromosomal abnormalities on an ultrasound, so it's absolutely wonderful news that your baby looked perfect on the ultrasound! Sending some your way, I know how stressful these tests can be!

I saw your thread- what an amazing relief for you! Im so pleased you had good news. I'm sorry you had such a worrying time! Let's hope for an uneventful second half for both of us!

 

[kmumtobe]

Hi, that's great news your scan went well and no markers found I really hope you can put it behind you i know it'll be easier said than done but it really does sound like you've nothing to worry about. Good luck!

 

[Gym knickers]

Just a quick update for anyone who finds themselves in a similar position. On Tuesday I gave birth to a gorgeous healthy baby girl with no chromosomal issues at all . She was 7lb 1oz and is doing extremely well! I spoke to the midwife who agrees that the quad screen is very unreliable and can cause a lot of uneccessary worry. My advice would be to think carefully about what you will do with the results before you have this test done. I will not be having it again!! Good luck to all you 2nd tri ladies, see you in baby club soon!