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Original poster

Downs Risk 1:11 waiting for NIPT results

51 replies

user1483777778 · 07/01/2017 08:49

I'm new to this group and I'm after some encouragement. My combined bloods and NT came back as a risk rating of 1:11 for Down syndrome. We've been advised to take the NIPT test and then depending on that result the CVS. My NIPT results are due back from Wednesday and my CVS in scheduled for Friday. I haven't been told the readings of my blood work and I've not received the report. The scans all looked positive and fine apart from the NT 3.4mm. Anyone had the NIPT and then had the CVS for reassurance?

OP posts:

Fcukthetww · 07/01/2017 09:19

Hi, didn't want to read and run. Literally just had our NIPT back this week and reading the results, it's 99.9% accurate in identifying when there are no trisomy's present so if it's negative then you probably won't need CVS. Our obstetrician said if it came back positive then an amniocentesis is the most definitive test because you can have mosaicism of the placenta and the baby could not have any trisomy but the CVS would show Downs in that case, whereas an amniocentesis will differentiate between placental and chromosomal abnormalities. Hope all turns out well for you xx

SarahOoo · 07/01/2017 10:54

Our NT was 3.4 back in October. We did have our blood results which showed them to be about half of what they should have so our risk for all three Ts was 1:85 & 1:78. We went straight to a CVS the next day mainly because we were sort of only shown that route, they mentioned they'd do the Harmony test too but I had no idea what they was in amongst the tears and worry.

Ours came back clear though, we had a heart scan the same day as the anomaly scan and that was fine too.

It's a very strange and worrying time between the test and the results and there are a lot of threads on MN that may help, I hope you can remain level headed as possible. I didn't call Arc but have heard amazing things so do get in contact if you need to speak with someone.

harleysmammy · 07/01/2017 16:04

I had a good nt result with my son so i dont know first hand anything about this really but my parents were told there was a VERY VERY high chance i had downs, it was literally 1:5 i think and my mother had to have the amnio. Even that said i would have downs, i came out okay. Even if it all comes back high risk, they do get it wrong sometimes x

Mooseville · 07/01/2017 17:53

Hi, I'm currently 19 weeks and were told at our 12 week scan that we were 1:10 risk. Our nuchal was 2.9mm. We had the NIPT and that came back as 1:1000000 but it was the worst week ever waiting for those results. Just try to think positive, the NHS tests have a really high false positive rate - up to 40% in older women over 40. Think of it like you've a 93% chance of everything being ok rather than 1:11 that it has DS. Since I've spoken about this after getting high risk I've had loads of people tell me how they too were high risk and all so far have been fine - although obviously someone somewhere has to have the bad news.

Good Luck!

Original poster

user1483777778 · 07/01/2017 22:13

Thank you for your replies I really appreciate your time. I find it all so confusing so we are trying to gather as much information as possible and strangely reading stories of others seems to be the only thing that is keeping me calm. My little boy is also keeping me very busy as two year olds do so I thank my stars for him.

I will post back the results either way, my story might help someone else searching for this subject.

Thanks all

OP posts:

MollyHuaCha · 07/01/2017 22:22

Statistics giving likelihood of Downs can be stressful - my thoughts and good wishes to you all . I'm not planning any more babies, but if I were, I would decline these tests. Now I am older and wiser, I have to question their purpose.

Johno85 · 07/01/2017 22:48

Hiya. Sorry to hear you're having such a worrying time. I've just had the Harmony test as although I was still classed as "low risk" at 1 in 185 it seemed a little close to 150. Plus I have other haematology stuff to deal with so went straight for the Harmony. Results should be thurs or Friday. A colleague had a risk of 1 in 22 from Nhs and had the Harmony and her daughter is perfectly healthy. Another had 1 in 77 and had an amino and all is well with her little boy. If the NIPT is like Harmony then it's 99.9% accurate. Everything crossed for you x

Original poster

user1483777778 · 08/01/2017 06:33

Hi Johno85

The NIPT is the just the term non invasive prenatal testing and the results will be screened with Genesis Serenity. I think they are all different companies that offer the same test, we've had to be very adamant that we don't want to know the sex of the baby so had to ask them to blank that out of the report. We've known about our risk rating since the 30th December but what with bank holidays we seem to have just been waiting an eternity already. I was so relieved to go back to work after the Christmas break so I could focus on something else for a change.

I think the not knowing is worse than knowing the result but we're preparing for both situations.

OP posts:

ricepolo · 08/01/2017 06:57

The dual test isn't great. With DC2 we got a high risk ratio despite a normal nuchal. We went for a very detailed private scan which checked 13(?) key DS markers and our ratio dropped to something tiny. However when they added in blood results it went back up to something relatively higher. The doctor advised me that for some reason my bloods send the results screwy (DC2 was healthy) so we refused the test with DC3 and will do with DC4 in a few weeks: for me it's not accurate.

Seahawk80 · 08/01/2017 07:59

Sorry that you are good through this. Thanks came back as 1/13 3 weeks ago. Id already had the harmony test and was waiting for the results. I ended up
Having a CVS the same day for various reasons. The cvs was all clear and the harmony results were 1/10000 .

I hope that it goes well for you and do try to focus on the over 90% chance that everything is fine. The NHS tests create so much unrcessary heartache.

Seahawk80 · 08/01/2017 07:59

"mine" not Thanks

Original poster

user1483777778 · 08/01/2017 21:36

Hi Seahawk80

How did you feel after the CVS and how did you feel the day after? I'm petrified of it but feel in my heart I will want to know for sure the results. Someone needs to be that 1 and if it's me I need to be completely prepared.

OP posts:

missmapp · 08/01/2017 21:41

I had a 1 in 4 result with DS 2. ,We had an amnio which came back clear. We then went on to have other tests which showed he had a genetic disorder and heart condition. He is now 9 , healthy and fab.
The wait is hard but knowledge is powerful. Good lck

Suzytwoshoes · 08/01/2017 21:46

Easier said than done but try to put it out of your mind until you've had the test.

a lot of results come back fine after the first test and stress you out for no reason try to stay positive and think I will cross that bridge if the time comes.

FrankAndBeans · 08/01/2017 22:27

I had a NT measurement of over 5mm, but a 1 in 250 odd. I had a CVS and there was a genetic issue and heart defect and our baby was too poorly. The numbers can be so off. I wish you all the best. It is the most horrendous time of a persons life waiting for these kind of results

Pitapotamus · 08/01/2017 22:38

You probably won't be that 1, but if you are it doesn't need to be the end of the world. Google "don't be sorry". It should take you to a really lovely blog written by a mum of a little boy with Downs Syndrome.

Seahawk80 · 08/01/2017 22:39

Hi user
The CVS was uncomfortable but not as bad as I feared. I felt a bit cranky afterwards but paracetamol helped. I took it really easy for about 4 days afterwards but that was because I had some bleeding. If it hadn't been for the bleeding I'd have felt pretty much back to normal the next day.

I've had a few scans since and all seems fine with the baby. I have had quite a few bleeds in this pregnancy so I think I'm just prone to it. The bleeding wasn't very heavy and most people don't have it.

Which hospital are you at? I hope you're doing ok, it's such a hard time but like others have said try not to stress too much (easier said than done I know)

Seahawk80 · 08/01/2017 22:39

Crampy -
Not cranky - I can't seem to type anymore!

Original poster

user1483777778 · 09/01/2017 21:14

Hi Seahawk80
A West Midlands hospital. I'm okay until I sit with little to do luckily that's not often. The result from this NIPT cannot come soon enough. The wait is torture.

Thank you for your feedback ladies I really appreciate it.

OP posts:

Seahawk80 · 09/01/2017 21:16

Good luck. I really hope that it is ok for you. I found reading a book that really held my interest helped. Read 2 Harry Potter books waiting for the results.

Original poster

user1483777778 · 09/01/2017 21:32

Frankandbeans

Sorry to read about your baby, you sound like a very strong person

OP posts:

FrankAndBeans · 09/01/2017 21:54

If it's Birmingham hospital I highly recommend them, they were amazing. Best of luck for you OP.

Original poster

user1483777778 · 13/01/2017 08:53

Still waiting for my NIPT result and the amino test was cancelled for today and rebooked for Monday which will give me more time to think about having it depending on the result of the NIPT. I feel sick to my stomach with worry today. I've been so positive this week and today a nervous wreck on the verge of an emotional breakdown. Can't stand not knowing it's just awful. I did call yesterday but they weren't ready. Oh this is just awful.

OP posts:

Mooseville · 13/01/2017 09:48

I really sympathise. This wait is the absolute worst. Just keep trying to stay positive, over 90% chance everything will be fine. I hope you hear the news you need today. Xx

Isadora2007 · 13/01/2017 14:30

Sorry to hear they didn't have your result ready. The waiting really is the worst isn't it. Hope you have answers soon.

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