Quad Screen- elevated risk for Trisomy 18

sweetcrash

This is my third pregnancy. I'm 17 weeks and 5 days along. With my first two, I didn't have the quad screen done. This time, since I'm almost 33, I did. The midwife explained to me that it's just a screening and not to panic if the results come back as "elevated risk". Sure enough, one week later and I got a call saying the baby is at an elevated risk for Trisomy 18. The risk ratio is 1 in 15. I know this happens and there's a good chance the baby is okay. But combined with a few other things (I'm measuring slightly larger than I should be, haven't felt the baby kick, have had a nervous feeling this whole pregnancy) I am extremely worried. I'm hormonal as it is and I've spent two days crying, after reading that trisomy 18 is usually fatal.

I was reading that the "false positive" rate for the quad screen for trisomy 18 is .5%, much lower than for trisomy 21. 

Has anyone experienced this? I see posts about it but it seems like many people had a much different risk ratio. Mine seems high and I'm worried.

I have to wait a week to get the MaterniT 21 test, and then up to 5 business days for the results and they refuse to move my ultrasound up to check for markers. (It's scheduled for 6/19)  

Any advice or sharing your experiences, good or bad, would help. I feel so alone. We waited until 15 weeks to tell our family and I was finally getting really excited. Now I'm a nervous wreck.

Thanks!

lilpoots

I don't have personal experience,  but I'm very sorry you're going through this. 

delujm0

Can you not ask your doctor for CVS or amniocentesis?  MaterniT21 is still just a screener, it won't give you an absolute positive/negative result.  Granted, it is a BETTER screener than the quad screen, but considering you already have had one screen done that showed elevated risk, what's the point of waiting any longer to get amnio done?  I'm not saying that this would necessarily be your choice, but if you wanted to terminate your pregnancy due to a true positive result, you are running out of time to do so in many states, so I'd think waiting 2 weeks for MaterniT21, which won't even give you a true positive/negative, would be a waste of time.  I would ask about diagnostic testing ASAP in your position.  I am sorry that you are going through this.

sweetcrash

When they did the quad screen, I told myself I wouldn't terminate the pregnancy either way. But if this next test is positive, I would consider it. Looking at some of the horrible things babies with trisomy 18 deal with, I feel like it is a possibility for me. I didn't ask about the amnio, just trusted that this is what they have to do next. I did get them to move up my appointment to tomorrow. I am also worried about the time. They refuse to do an ultrasound early to check for markers. I'll ask about the amniocentesis tomorrow. I worry about the possibility of miscarriage with an amnio. I agree though, I'm running out of time to decide and it would be hard to bring myself to do it this far along. I'll let you guys know what happens.

lilpoots

Glad they moved your appointment up. FX

delujm0

Risk of miscarriage with amniocentesis is incredibly low today.  Most of the medical studies that lead to the miscarriage rate that is currently quoted are from 20-30 years ago.  With improvements to ultrasound and other medical technology, the risk is truly a lot lower.  It is also hard to determine whether the amnio itself truly lead to the marriage - today there are so many advanced screening tests that generally the only people that have amnio done are those that are at a higher risk of miscarriage due to genetic abnormalities to begin with.  Personally, I would opt for the amnio to get a definite answer whether or not I was considering termination.  Otherwise I'd spend the whole pregnancy worried about what was potentially going to happen.

 

If they can do the blood draw for the MaterniT21 ASAP, those results are generally pretty quick at least.  I'm not sure why they want you to wait a week before doing that - you can get accurate results from that test as early as 10 weeks.  If that test shows low risk you could skip the amnio (which would probably take a while to get scheduled anyway, so you might be able to get this done in the meantime).

 

Why won't they do an ultrasound to check for markers?  Generally the quad screen is done in conjunction with an NT scan ultrasound to check for markers of genetic conditions.  Did they not do that for you?  It's usually done around 12 weeks.

sweetcrash

Thank you for the amnio information. I didn't know that. They claim the ultrasound, if done now, wouldn't show the things they need to check for at the typical mid-pregnancy ultrasound. I disagree since I'm 18 weeks and everything I read says 18-21 weeks is when they usually do it. I'm frustrated with this ob/gyn office. They seem to be overwhelmed with patients. Unfortunately, it is the only one near my small town that takes my insurance. I'm in the waiting room now to get the Maternit 21 test. Hoping to get these results early next week.  

delujm0

Maybe they just can't get you scheduled for an ultrasound at 18 weeks if they're that busy.  I had my anatomy scan with DD at 18 weeks, though I waited until 20 weeks this time.  I had Panorama done (similar to MaterniT21) over Thanksgiving weekend, and still had results in about 4 days.  Hopefully you get those back very soon and can plan your next move from there.  Though I would ask about amnio today and even try to schedule it if they'll let you - you can always cancel if MaterniT21 comes back as low risk (which would indicate a testing error in the quad screen), but at least you'd have it on the books.  If they can't schedule a last minute ultrasound, it might be challenging to schedule amnio (though that is generally done at the hospital instead of in the office).

mrsguzman1002

This may not be what you want to hear because it definitely wasn't what I wanted to hear but you have to let go because you can't control any of this. I'm not is this particular boat but I have a short cervix and a liver problem which raise my risks for premature birth(my first was 2 months early) and still birth. I'm 24 weeks and I'm still having a hard time not worrying but at the end of the day no matter how much we cry or worry whatever happens happens and unfortunately there's nothing we can do about it and worrying just makes it worse and us miserable. We will get through all of this no matter what happens at times I feel I'm not as much of a woman as others because I need so much help and medication to be pregnant and women remind me it's not my fault and I'm doing everything I can to ensure a safe birth. Which I'm sure you're doing the same. Take a day off have the hubby watch the kids and go get your toes done or whatever makes you feel good. But try to let it go. I know its much harder than it sounds but we gotta try. Hang in there girl 

sweetcrash

Thank you everyone. And thank you mrsguzman. I'm trying to put it out of my mind. I'll find out the results this week. But I'm trying to remind myself I can't change it anyway.

sweetcrash

I am so happy! They still didn't have my results, so the nurse called to see if they had them. The results were negative for all the Trisomies they tested for. And it's a boy! I am so relieved. I started crying when she told me. Thanks for all the encouragement!