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NIPT/Screening tests


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#1 mlc77

Posted 12 August 2016 - 10:16 AM

Hi all,

I had my blood test this week to have the NIPT Harmony test to screen for chromosomal abnormalities. Given I'm 38 and the constant mentioning of my 'advanced maternal age' (yeah, thanks, I'll get my walking stick on the way out of the consult room) I've tried to stay a bit distant emotionally during this pregnancy (my second, have a daughter who is nearly 6) until we've cleared the screening and early morphology scan (still 2.5wks away).

But this week I've had to pull out the mat' pants and I'm finding myself engaging more and more with the pregnancy (caring more about those little daily email updates about nose forming and elbows being able to bend!) and of course with that, has come more anxiety about the screening results.

My last pregnancy was just risk factors based around the scan and 10wk blood test but the NIPT type test wasn't yet available. I had great (very low) risk factors (same as a 16yo) so I think I've been a bit nonchalant about being older. However when I had the test this week, the genetic counsellor mentioned my risk for DS is 1:160 just based on age alone. That kind of brought it home.

For those not having screening - all good! I found our first year with a healthy newborn so hard that I know I'm not made of the right stuff to be able to deal with major health issues, but those who do have my utmost respect.

I should get my results next week some time via phone call. I realise I'm probably one of the first to have the test as my EDD is 05 March.

I thought I'd start a thread where perhaps those who are having screening done can share the journey and anxieties together!

:heart:

#2 Nutty nut

Posted 13 August 2016 - 12:55 PM

How rude! I had my first at 38, my second at 40, and all going well it will be my third at 42. My obstetrician did mention in passing the higher genetic risk, which i am well aware of, but I'd be mighty annoyed if everyone kept harping on about it.

I had my test done Thursday, so should get it back close to when you do. If it's any comfort, my background risk of the 3 trisomies is 1 in 50, so you're in a much better position than I am! EDD allowing for a 24 day cycle 4th March.

Edited by Red nut, 13 August 2016 - 12:57 PM.


#3 mlc77

Posted 14 August 2016 - 08:13 AM

Ha! Thanks Red nut, that gave me a much needed giggle!

I keep focussing on the 'that's 49/50 who are fine', right?

:)

#4 greenthumbs

Posted 14 August 2016 - 08:28 AM

Not in this DIG, but just wanted to say, keep busy. Distract yourself as much as possible. I had the NIPT test with DS2 as DS1 had been deemed high risk when I was just 32 and then the regular screening for DS2 came back as even higher risk (1:21). It was such a long two week wait and the only advice I have is to keep yourself as busy as possible. Try not to overthink anything, as there is no point until you know the results.

Good luck! :smile:

#5 Treadyourownpath

Posted 14 August 2016 - 04:05 PM

I started a thread under the Older Mums section about being called Advanced Maternal Age and risks etc when pregnant earlier this year with my third at 37, lots of support and advice from others.

Try not to stress until you get the NIPT results and go from there. Good luck 😊

#6 sydowens

Posted 15 August 2016 - 03:20 PM

I'm 36 and chose not to do the screening test at this point as just by being 36 I'm already high risk. My OB says if I don't plan to do further invasive testing now, then the 20 wks morphology scan will tell us all we need to know.

What is to be will!

Good luck to you

#7 laciem

Posted 15 August 2016 - 04:17 PM

I'm doing the NIPT test and am "only" 30.

I honestly don't know what I'd do with a positive result but I want the chance to know early so DP and I can talk it through.

The way my doctor explained it is that older women may have a higher risk but most pregnancies with Down's syndrome and other chromosomal disorders are younger mothers (more pregnancies in this age group). It can happen to anyone

I still haven't booked my test as I react badly after blood tests so need to find a time when DP can come with me.

I do find myself feeling more anxious about how the pregnancy is going closer to tests and scans. When I don't have results coming up I just assume it is all fine but when there is a test coming up I worry a little that the results will be bad.

Edited by laciem, 15 August 2016 - 04:18 PM.


#8 mlc77

Posted 15 August 2016 - 09:00 PM

I or my results back today (on the 4th business day after test - earlier than I was told to expect!). All came back low risk - major relief!

And now we know we're welcoming a second daughter... Time to start hunting names, drawing blank this time around. Good luck to everyone else still waiting on results.

:)

#9 Nutty nut

Posted 17 August 2016 - 08:32 PM

We're in the clear too! What a relief!

#10 Nutty nut

Posted 27 August 2016 - 03:09 PM

Ultrasound all normal: it's amazing what they can see so early. Anyone else?

#11 Perth_mumma

Posted 27 August 2016 - 06:54 PM

Waiting waiting! Been one week almost but told it takes two so I will be keeping my eye on the phone this week...

#12 Furfeathersfleece

Posted 28 August 2016 - 11:38 AM

Hi everyone. I'm due 23 March.  I am very unwell with hyperemesis so haven't joined in dig discussions as I'm feeling quite detached from the pregnancy. Hope to become more involved as my health improves.

I'm about to do the harmony test through sonic genetics. Has anyone had this test specifically? Did they phone through results? How many days did it take? I'm most anxious just to find out the sex tbh...I'm really hoping it helps me connect with the pregnancy. It's been a very difficult couple of months.

#13 laciem

Posted 28 August 2016 - 01:25 PM

Interestingly the lady who took my blood said the tests are more likely to fail and need retesting when done at 10 weeks vs 12 and later. Glad I waited until 12 weeks as I loathe blood tests.

Still waiting for my results, 8 days now including weekends.

My GP said she would text me the results if clear or call me in if I need to be retested or they come back high risk.

I had hoped I'd get the results back before US on Monday but that seems very unlikely now.

Edited by laciem, 28 August 2016 - 01:25 PM.


#14 MerryClumsyXmas

Posted 13 September 2016 - 12:50 PM

I am so confused :(  
I tried to get referred/booked in to do a "12 week scan" thinking that the NT scan was a part of this.  It's separate.  When I tried to update my referral I was told I would need a new blood test form too as i would need to get a NIPT test.  I don't think I want a NIPT test?! Well, i do. But im not sure?!  
I thought I could elect to do a NIPT test *IF* my NT scan came back odd.  
I now feel like I've been talked into taking it, finding out things I dont necessarily need/want to know and paying $ we shouldnt have to ?!  

i'm really undecided and so is DH about what we would do if the results came back that we did, in fact, have a baby with DS on the way.  DH doesnt think he wants to know at all because he thinks if he knew about it ahead of time he would want to terminate but if he didn't know and the kid was born wiht it it wouldn't worry him whereas I want to know so that I can mentally prepare myself and 'grieve' the baby i was hoping for and get ready for the baby i would be getting!!  (if that makes sense).  I wouldn't terminate based soley on DS.  He would.

Edited by Clumsy86, 13 September 2016 - 12:51 PM.


#15 laciem

Posted 13 September 2016 - 02:25 PM

I was given a choice:

NT bloods + NT scan (they calculate risk from looking at both)

Or

Harmony blood test + anatomy scan

The harmony option was more expensive but I was happy enough to pay for the increased accuracy.

The scan was great to see the baby and check that all the normal stuff was happening, size, heart, limbs, etc.

#16 MerryClumsyXmas

Posted 13 September 2016 - 06:57 PM

View Postlaciem, on 13 September 2016 - 02:25 PM, said:

I was given a choice:

NT bloods + NT scan (they calculate risk from looking at both)

Or

Harmony blood test + anatomy scan

The harmony option was more expensive but I was happy enough to pay for the increased accuracy.

The scan was great to see the baby and check that all the normal stuff was happening, size, heart, limbs, etc.

Hmm maybe I had a miscommunication with the dr.  Maybe the bloods I'm getting are the NT bloods?  It's labelled as something like PAPP a & b from memory (too lazy to get up and grab the form)

#17 Wango

Posted 13 September 2016 - 09:06 PM

Papp A is the NT bloods.   It's a protein.   NT bloods also check for HCG level.  The PappA and HCG results from the NT bloods when analysed with the nuchal fold measurement from the NT scan gives you the risk score for certain chromosome abnormalities.


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