Quad Screen

crs89

*TW* I received my quad screen results back and my doctor is recommending further testing because my levels for Down Syndrome came back abnormal.  Has anyone else gone through a positive result from this screen and needed "further testing"? What does that entail?  I'm google searching and finding a lot of different possibilities from NIPT, amniocentesis, etc. I was curious how invasive the "further tests" would be. 

These results have been very emotional for me...even though I know it's just a screen and not a diagnosis. I'm trying to stay positive, but my emotions are not listening to my logic and I'm still very emotional to even need to the further testing. 

(FYI - I tried to search to see if there was any other threads with the quad screen as a topic and didn't see anything specific to this.  The closest thing I found was the NT/NIPT thread...which didn't quite answer my question.)

Thanks! 

nomangos23

@crs89 I'm so sorry you got concerning results, but like you said, it's just an indicator, not a diagnosis. Have you had your anatomy scan yet? There are often soft markers of down syndrome that a tech can see. 

Secondary testing will likely be an amnio. I had one in my first pregnancy. It wasn't pleasant but was worth the discomfort in order to have answers. Some don't want answers. I wanted to be as prepared as I could possibly be to make the most informed decision. Sending BIG hugs to you as you wade through this terrifying and confusing time. 

ternsetc

@crs89 no experience to share, but thinking of you during this stressful time and wishing you the best. Has your Dr suggested an appointment with someone to talk you through the options for further testing?

crs89

@nomangos23 Thank you for the BIG hug! I need that right now! I think I'd fall into the same category...I'd want to be as prepared as I possibly could for a baby with special needs.  If I didn't, I think I would worry and stress about it for the next 20 weeks. I have my anatomy scan this coming Monday...I had a gender scan last Tuesday and she said at a glance every thing looks good, but it wasn't an in depth look at anything other than gender.  

My OB is referring me to a specialist and I'm currently waiting on a call to set up an appointment. 

zuuls_mom

Sending you love and hoping all comes back ok in the next round of testing! 

themadcamel

I would definitely want to know/learn more too. It sounds like you’re on a good course to get more definitive answers. Lots of hugs and good vibes to see you through this stressful time. ❤️

swamplass

@crs89

My doctor also used the term "positive" to describe a screening result, which, in addition to being crazy stress-inducing, is inaccurate. The results of your quad screen give you a chance or probability of there being a chromosomal difference, like a trisomy. Results should be described in terms of probability (e.g., 1 in 5, or 1 in 30, 1 in 100, etc).

That's great that you have the referral to the specialist. My doctor set this up for me, but I wish I'd gotten their office number ahead of time so I'd ask for that. 

Ask for: (1) a copy of the report from your quad screen; (2) a referral to a maternal fetal medicine specialist (MFM, also known as a perinatologist) - sounds like you have this already; (3) an anatomy scan; and (4) NIPT (which is a blood draw that at baby's DNA circulating in your blood). (These are the things my OB recommended when my sequential screen results came back at an elevated risk for trisomy 18.)

You could have blood drawn this week for NIPT. Mine took about two weeks to come back though.

Your anatomy scan is coming up on Monday, maybe they could see you sooner to minimize the wait/ stress. I had my anatomy scan appointment immediately followed by the consultation with the MFM/ perinatologist. Following the scan she described the results of the scan in terms of what we would see if trisomy 18 were present. (I ended up doing an amniocentesis immediately following the anatomy scan and consultation, and these results came back before the NIPT which I had drawn prior to this appointment.) At your scan on Monday make sure they are aware of your quad screen results and ask to consult with the doctor ASAP regarding the anatomy scan results, either in person or on the phone. Tell the sonographer, tell the person who checks you in, tell everyone, so your message makes it to the doctor.

I'm sorry you are going through this uncertainty and stress and I am sending positive vibes your way! ♥️ 

swamplass

@crs89 sorry adding a few things just re-read your original post!

NIPT is noninvasive (blood draw), amniocentesis is invasive. If they recommend one or both ultimately it is your choice. (I chose to do the amniocentesis even though my anatomy scan looked good, because the uncertainty was too stressful for me. I wanted as much info as possible.)

~~ virtual hug ~~

calliah

I’m so sorry you’re facing this news and in limbo. 
They will probably do an amnio. You’ll have your anatomy scan and will probably have a level 2 at an MFM office. They will probably also do a fetal echo since the heart can be a big cause of concern with T21. 

Hugs to you. I hope you can get answers soon. 

blitzybee

Thinking of you @crs89 . I hope you get some more information soon. Sending hugs your way. 

sourlemon

Lurking from August. I had an abnormal quad screen with my first pregnancy. They did extra ultrasounds but the NIPT wasnt offered/covered by insurance (it was brand new at the time) and I declined the amnio due to the risks. All of the follow up ultrasounds looked good and they downgraded my "chance" of something being wrong to a very slight chance (maybe 1/1000) by the time the baby was born. Even with that, it caused so much stress for the rest of that pregnancy and the first thing I asked when she was born was if she had Downs. She didnt. A few years later we discovered a correctable heart defect, but other than that she was/is perfectly healthy.

I have refused quad screens (and other genetic testing) for my other pregnancies because my experience then. It wouldnt have changed anything for us and we did lots of research when the initial abnormal screen came back, so I have taken on the "worry less" approach since then and refused the tests.