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"Iffy" A/S and sequntial screen results (long...sorry)

kristenavtkristenavt member
in 2nd Trimester

Hey Ladies!  I usually just lurk on here but I could use advice/words of encouragement.  I am 29 yo and this is my first pregnancy.  We opted for sequential screening in the 1st and 2nd tri, mostly because we didn't know any better and thought "why not?"  We recently got our results back and our risk of DS went from 1:770 to 1:310 (all other trisomies were low risk).  Basically, this means we were not quite considered "high risk" (cutoff for "high risk" is 1:270) BUT I was at a higher risk than expected for my age range and my risk increased between the first blood draw and the second, which didn't exactly sit well with me and DH.

 My OB was great and was able to move my A/S date to today (orig scheduled for 1/8) because we were going to wait on any additional testing until our A/S was completed...and the thought of waiting another 10 days was excruciating. Today, most everything looked great except a small EIF was noted on our baby GIRL's (yay..team pink!) heart.  The doctor explained that EIF often shows on ultrasounds of normal babies as well as some with DS.  And, she said that had our sequential screen put is in the normal range before the A/S, that an EIF would be considered a normal variant and would not be a concern.  However, since my bloodwork came in at an elevated risk AND the EIF showed on US...they recommended either maternit21 or amnio since our risk has increased a bit again.

I guess I'm just trying to see if anyone else has been in this same boat?  I truly believe that in our case, the docs are just being overly cautious...and  I am trying to stay rational and realize that even w/ both of these results, our risk is still <1% for DS...but I'm not entirely sure how convinced I am.  We opted for the marternit21 test because its non-invasive and still diagnostic so we'll know in 7-10 days...but I'm curious if anyone else has been here in the meantime.  Thanks in advance and happy new year to all you mamas!!

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Re: &amp;quot;Iffy&amp;quot; A/S and sequntial screen results (long...sorry)

  • mommatotwo2mommatotwo2 member

    I'm sorry you are going through such a worrisome time. I've not been through down syndrome, specifically, but I did have a DD with a severe kidney birth defect identified at my 20 week ultrasound so I understand somewhat how you are feeling right now. Thankfully, you'll know in 7-10 days one way or another, so the agony of worry will not go on forever and you will have time to prepare if you do get news that your baby has DS.

    T&P, Good luck, and keep us posted. 

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  • mariamariamariamaria member
    I didn't do the sequential screening this time around, but did end up doing it with my DS because he had a soft marker for some trisomies (choroid plexus cysts on his brain). Everything turned out fine and he's a normal 3 year old (as of today actually!). With this pregnancy, my A/S showed an enlarged kidney (pylectasis) that we'll have to watch. It's a soft marker for down syndrome as well, but my OB wasn't concerned since no other markers showed up on the scan. I believe the same is typically true with an EIF and that it's a pretty common finding in babies without down syndrome, too. I'm sure everything is great, but hopefully the results will give you the relief you need to enjoy the rest of your pregnancy. GL!
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  • bumpuser8448316bumpuser8448316 member

    I don't do any of the testing, but if it was me, at this point, I wouldn't do any further testing. I would ride it out until delivery.

    If you need to know for sure or put your mind at ease, I would opt for the amnio.


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  • courty625courty625 member

    I don't have any advice as which test to use, but I have to disagree with skipping it all together. Not necessarily for the DS, but I would want to make sure the hospital was equipped to handle with the possibility of a heart issue. 

    Good luck to you and I hope you don't have to worry about this much longer. 

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  • DrswifeDrswife member
    I had the quad screen and my risk for my 2nd daughter was 1 in 60.  We had a high res ultrasound and they couldn't find any markers.  She was born perfectly healthy!  But, I know the emotions you are going through and it is the worst.  Try to keep it all in perspective until you get the test results. 
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  • kremerkskremerks
    I am 35 with this one so we did the maternit21 test and my doctor made it sound like this is really accurate and it's non-invasive - simple blood draw.  My OB has had patients lose children over amnio's, I know risk is low but it happens and I knew I never wanted to do that because it is what it is.  Good luck in your decision and I am sure it's all fine.
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  • SwedySwedy member

    I'm sorry you are going through a hard time with this, although I think your risk for DS is very very slim, I understand your worry.

    I did the NT scan along with blood work. NT scan came back fine, OB said it was normal. Then a week later a got a call from a genetic counceller who told me I have 1/15 for DS. I'm 32 so it's not due to my age...the average for my age is 1/390. So I have a 7% chance of my baby having DS. It scares me to death thinking about it. When I spoke with the genetic counceler she recommended doing and amnio. But I said no, I then asked her about materniT21 and she said I could do that. I'm going in on the 9th for my blood draw for materniT21. I'm very nervous but want to find out, one way or the other. 

    I sooo regret even doing the NT, I really didn't think about it nor did I research it. I just wanted to see my baby on the u/s :)

    I will never ever do the blood work for the NT again!

    I have a gut feeling my baby will be just fine but thinking about my chance being so much higher than others scares me.  

     

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  • MrsJodiKMrsJodiK

    I'm so glad to have found this thread as my NT results came back today after the second blood draw.  I was given a 1/115 chance of my child being born with downs.  I'm 35 which is what she said elevated the risk as well.  As you can imagine, I've been a ball of emotions since getting the phone call and can't stop crying which I know isn't good for baby.  Luckily, I have my anatomy scan tomorrow and my doctor is setting us up with a high risk doctor for a more advanced ultrasound first and if that comes back with markers she'll talk to us about an amnio.  I'm completely terrified of the amnio and risks.  Now I just wish I would have never done the NT test at all.  Thoughts and prayers that everything goes well with your results! 

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  • kristenavtkristenavt member
    I feel the same way...if we had not done the NT scan, the EIF on ultrasound would have been a non-issue.  Now I'm nervous about a <1% chance!!!!!  My husband and I have said we will NOT do the NT scan in any subsequent pregnancies.  We are at peace with anything that the materniT21 says because we absolutely love our little girl and nothing else matters...but the added stress is no fun!  Fingers crossed and T&P for you as I know what you're going through!  Keep us posted!
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  • kristenavtkristenavt member
    @MrsJodiK...are the MaterniT21 or Harmony tests available in your area?  From what my doc has said it is 99.1-99.7% accurate for DS diagnosis and it is just a blood draw (no risk to baby).  I'm sure your ultrasound will come back normal...which would decrease your risk to what I would think would be an acceptable level.  But, if you are like me and need to ease your mind, the blood tests might be a better (and safer option).  GL and keep us posted!
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  • MrsJodiKMrsJodiK
    @kristenavt - unfortunately my doctor's office doesn't offer either of those tests.  I did however have a great anatomy scan today and our doctor said that they saw no markers for downs on our little GIRL!  She is still sending us to a specialist to do a level 2 ultrasound but expects the specialist to adjust our numbers because everything looked so good today.  I finally feel at ease.  We'll wait until after those results before deciding but I'm feeling confident to say an amnio won't be necessary.  What a relief!
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