# Abnormal Quad screen results- trisomy 18



## Bmama

I have been debating posting this for awhile keeping the hope that my screen is a false positive, but I wanted to see if there are any mamas out there going through the same thing. 

I wasn't even going to have genetic testing done, since our ds is healthy, but I have a new dr in a new town we moved to, and she kind of pushed it on us- as she explained "the quad screen is just an extra vile of blood". I figured it can't hurt right? So a few days after giving blood I got a call from my Dr's office asking me to come back in to discuss my results. Honestly I thought perhaps I had elevated proteins or sugars in my blood, I could never have imagined anything as devastating as the news she broke to me. Our quad screen results came back high risk for trisomy 18 and our risk ratio was 1/10. They flag anything under 1/100, and my Dr hadn't seen numbers like mine so high. Unfortunately my Dr wasn't all too helpful explaining trisomy 18 other than "it's a fatal condition" and after these results come back we need to speak to a genetics counselor. She didn't offer me hope or mention that there are false positives, so the meeting left me deflated and emotionally shattered. I do trust her though because she has been dealing with high risk pregnancies for 20 years, but I wish she had given me some hope to hold on to. We went on to have the panorama DNA testing which my Dr says will be more conclusive. I should hear back about our results this week, and until them I am an anxious mess! 

Anyone gone through a similar experience? I would love to hear about it if you don't mind sharing, but I know it can bring up some tough emotions. 

At this moment I feel at ease that whatever is meant to be will be, and I put my faith and trust in Gods hands at this point. :flower:


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## jensgt

I hope your panorama shows a different result. Have you had a nuchal fold ultrasound yet? I just wanted to say that my panorama took 2 weeks to come back...so I hope yours comes back quicker but I read it's pretty common for it to take that long.


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## Bmama

Thank you, I had no idea it could take that long! Going to keep myself busy planning my son's first birthday. 

We didn't have the NT ultrasound done this time around. My midwife back in my hometown really only likes to do the 20 week anatomy scan unless you want extra testing done.


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## Nikko88

Risk factors are tricky. Just because there is a chance doesn't mean it's going to happen. Keep that in mind before researching anything on trisomy 18 (Edwards syndrome). Best to wait for a confirming scan or DNA testing. It took less than a week for me to get my MaterniT21 DNA testing back.


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## kit10grl

Bmama said:


> I have been debating posting this for awhile keeping the hope that my screen is a false positive, but I wanted to see if there are any mamas out there going through the same thing.
> 
> I wasn't even going to have genetic testing done, since our ds is healthy, but I have a new dr in a new town we moved to, and she kind of pushed it on us- as she explained "the quad screen is just an extra vile of blood". I figured it can't hurt right? So a few days after giving blood I got a call from my Dr's office asking me to come back in to discuss my results. Honestly I thought perhaps I had elevated proteins or sugars in my blood, I could never have imagined anything as devastating as the news she broke to me. Our quad screen results came back high risk for trisomy 18 and our risk ratio was 1/10. They flag anything under 1/100, and my Dr hadn't seen numbers like mine so high. Unfortunately my Dr wasn't all too helpful explaining trisomy 18 other than "it's a fatal condition" and after these results come back we need to speak to a genetics counselor. *She didn't offer me hope or mention that there are false positives*, so the meeting left me deflated and emotionally shattered. I do trust her though because she has been dealing with high risk pregnancies for 20 years, but I wish she had given me some hope to hold on to. We went on to have the panorama DNA testing which my Dr says will be more conclusive. I should hear back about our results this week, and until them I am an anxious mess!
> 
> Anyone gone through a similar experience? I would love to hear about it if you don't mind sharing, but I know it can bring up some tough emotions.
> 
> At this moment I feel at ease that whatever is meant to be will be, and I put my faith and trust in Gods hands at this point. :flower:

Your doctor wouldnt say that the test you had gives false positives because it doesnt give a positive or negative result. Its a risk factor so when you have low risk numbers and end up being the 1 in however many it doesnt mean the test was wrong like a lot of people think it just means that on that occasion it was the 1 and not the other percentage.

DD was a 1 in 15,000 risk and we were the 1. But with 1 in 10 results there are still 9 chances yoru child will be unaffected. Our amnio came back clear as DD's condition isnt tested for so even with all the testing in the world there is an element of risk. It's so hard not to worry but you will find the counsellors will be more equipped to answer your questions hopefully they can give you some peace of mind till your tests come back.


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## Bmama

Thank you for responding Kit, and I am sorry to hear that your daughter's condition went undetected. It amazes me that with all the advances in prenatal testing they still can't detect everything. I will definitely love our baby no matter what, and like you said there is still a 9/10 chance everything is okay.

The reason I had posted I wish my dr said something about 'false positives' is because when she initially discussed my results she said that we had 'screened positive' for tri-18. I just wish she had been a bit more sensitive with her wording and said the screen showed we were high risk, instead of a 'screen positive'. After all this testing is done I am going to look for a new dr in my area.


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## Nikko88

Doctors aren't great with interpreting genetic information. If there is a problem, try to see a genetic counselor.


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## victoria1987

I'm am so sorry that you are going though this as trisomy 18 is such a scary one. It is true that it is considered "incompatible with life" (which is just a terrible phrase). We had a trisomy 18 scare ourselves as my son's 20 week scan showed cysts in his brain which is a soft marker for the condition. I had the triple screen done but due to a muck up with the lab they lost my bloods and did not tell me until it was too late to re-do them! 

I had gone back for a level two u/s to check for other markers and will find out the results tomorrow. Since we don't have a risk ratio for the triple screen we will need to decide on an amino if other markers were present on the last scan. It's really terrifying and I feel for you! I made the mistake of reading all about this disorder and really upset myself. Hopefully the genetics counsellor will be of some help. Just be prepared as I have heard that many of them can be very negative and can really scare you! Try not to get too upset until you have a concrete result (ie. Amino). Although 1:10 is very high for this test remember that it still means that you have a 90% chance that your LO is perfectly healthy!
Good luck, my thoughts are with you!


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## Bmama

Thank you ladies for your encouraging words and sharing your stories <3 

Victoria- Did you get your ultrasound results? Hoping everything is going well with your little guy!

Just wanted to update that my panorama results came back inconclusive, and I was referred to a maternal fetal medicine specialist for a level 2 ultrasound and amnio. Heading to the appointment, which is 3 hours away, on Tuesday. I have been feeling baby kick away, and my belly has definitely popped, so overall I am being positive although now I am a bit scared of the amnio procedure. Anyone have it done before?


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## steph.

I'm sorry you are going through this. We had 1:20 risk of down syndrome and the doctor was also very negative when she spoke to me. I had the amnio and it came back clear, she is 9 months old now, doesn't have down's and is as cheeky as can be!

The amnio itself was very straightforward. They did an ultrasound beforehand, found the perfect spot to put the needle in, put it in, got the fluid, and took it out. It lasted about 2 minutes. Then they gave me a cup of tea and cookies, and sent me home to rest. The worst part is waiting for the results. Hope you hear good news, remember there is a 90% chance all is well xxx


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## jensgt

A friend of my husband told me a nightmare story the other day about when she was pregnant with her daughter. She went for an ultrasound halfway through the pregnancy and they said her amniotic fluid was pretty much gone and there was not much chance the baby would make it. They told her her daughter would have downs syndrome and then later told her based on growth scans that her daughter would have dwarfism. She ended up being born perfectly healthy with no issues at all. Doctors can get things really wrong sometimes.


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## bdb84

First off, super big hugs. :hugs: I can only imagine the stress you are under right now worrying about your baby. 

I do not have any personal experience with this, other than a dear friend whose daughter was born with T-18. If there are any questions you'd like me ask, I would not hesitate to play telephone for the two of you. I'm sure she'd be extremely willing to lend advice. 

But my bets are with that 90% that your baby will be just fine. :hugs:


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## Bmama

I really appreciate all your responses ladies :) I know Drs aren't perfect and I am set on having this baby no matter what!

bdb84 I will certainly message you if my results come back with t-18, as I know I will have questions for your friend. Thank you for offering to play telephone :hugs:


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## twinkletots

I have also had an amnio and the procedure itself is uncomfortable rather than painful.
I had some cramping the day afterwards and was convinced I was miscarrying but it can be normal to have some cramping for a couple of days afterwards.
Good luck x


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## Bmama

Thank you all again for your support and well wishes, it seriously kept me so positive <3 I am very very very happy to report that baby looks perfectly healthy and is not at any increased risk for chromosomal abnormalities. 

Although I am SO happy with the good news, I can't help but be pissed at the Drs because we found out from the specialist that my dr had "miscalculated" my risk!!! She entered the wrong due date and it completely put my risk through the roof! After the specialist re-calculated my risks with the correct due date, my risk went from 1:10 to 1:32,000. Then we did the level 2 ultrasound which confirmed baby is structurally normal and right on target for growth. It was probably the best news I've ever gotten in my life, and all I could think about was how happy I was to have I healthy baby I didn't even hear the tech tell me we were team blue :blue: 

This just goes to show me that Drs make mistakes and to take everything they say with a grain of salt. And to certainly trust my instincts!

:hugs: Thank you ladies again for all your support, this is why I <3 bnb!


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## steph.

Congratulations on a healthy little boy! Can't believe they miscalculated your risk!!! You'd think they would double check before giving you the biggest fright of your life :wacko:


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## Bmama

steph. said:


> Congratulations on a healthy little boy! Can't believe they miscalculated your risk!!! You'd think they would double check before giving you the biggest fright of your life :wacko:

Thank you! and that was exactly the first thought that ran through my head!! well that and it's definitely time to find a new doctor!


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## nickyb

Wow I can't believe they did that to u ! What a roller coaster so so pleased for u that all is well and congrats on team blue :hugs:


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## bdb84

This is amazing news! <3 Congratulations on your little boy!


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