Positive Quad Screening

alissadd · January 2015

Hi all. I new to the boards. I really needed to vent and possibly get some advice.

About 10 days ago I did the blood work for the quad screen, which I'm sure most of you know (and may have been through) is the screening to test for the likelihood of spina bifida and downs syndrome. A few days after that I got a call back that my test came back positive. I started crying my eyes out at work. After a long tearful phone call to my husband, I started making the phone calls to get additional testing. We are going tomorrow for a consult visit and sonogram. It's been 5 very long days of worrying. Whenever people start to ask how I'm doing (with the pregnancy) I want to snap. Several times I've just started crying and ranting at my poor husband because the stress got to me. We were supposed to go last Saturday to have the anatomy ultrasound and find out the baby's gender. We weer going to have a date night afterwards. I have been looking forward to it for weeks. But that got cancelled, and all moved to the appointment with the genetic counselor. Something that should have been really happy has just turned into something dreadful.

I know a lot of people have come up positive and had nothing wrong with their babies. I'm trying not to worry, but how can I not? The thought of something catastrophic being wrong that I would have to terminate makes me want to break down all over again. I've felt the little wiggle worm moving around for weeks now. I don't want to destroy it. And if it's somewhere in between, then what? I've asked myself that over and over. I don't know. The emotional part of me says keep it no matter what and the logical part of me says that bringing a child into the world that is disabled is just hard on parent and child. And as a person who always internalizes problems, I feel like this is all my fault. Even though he has done everything to support me, I feel like I've let my husband down. Things reproduce all the time. There isn't any skill to it. It just happens. And somehow I've screwed that up.

What really makes really angry though is my OB/GYN's lack of communication. I barely got any explanation from them. They hardly explained that this was a screening and not an actual test. The few questions I got out before I started bawling they couldn't answer. I asked if the test came up positive for spina bifida or downs and the secretary couldn't answer. The answer I got was 'you remember that test you took a few days ago?' Yeah, how could I forget them drawing blood for a test! The test was for multiple things. Which one came back positive? No answer. They didn't give me the odds (1:whatever, as most people I've seen online have gotten) or tell my what added to my risk factor (like id it because I'm in my 30's or what). The girl told me 'you may just be in a high risk group.' Which to me, implied that the test could have been diagnostic, not just a risk screening. When you are on the verge of crying, you don't think to ask these questions. Most of the information I've gotten has been from the internet and other people who have gone through this. I don't really understand how a test that only has a 5% false positive rate has so many people that have had 'false positives' and healthy babies.

Anyway, sorry for the long post, but I needed to get it out. If anyone would like to share stories, I'd appreciate it.

nicolec3 · January 2015

When I was pregnant with my DD I was told the test came back positive for an open neural tube defect. They called me at work since they couldn't reach me at home. I felt like my world came crashing down. It took about a month to get the level II ultrasound. Thankfully everything was fine. I hope the same thing for you. The MFM doc said my blood could have just been mislabeled. When I went for my monthly check for my current pregnancy they gave me the paperwork to get tested again for an open neural tube defect. Even though it was ten years ago it felt like yesterday.

KonaCoffeeBean · January 2015

First of all, I am really sorry you are going through this. Try not to let your mind wonder too much until you have the results of a diagnostic test.

Secondly, just a general comment, I don't understand why people refer to an abnormal result on a screening test as a "false positive." It's not a positive at all, just higher than ordinary odds. If the expected odds are 1:2,000 and yours are 1:100, then you're going to get some additional testing. "False positive" to me means being told your child as a condition, and then it turns out the child does not have the condition. The screening test just tells you what your odds are, are there is nothing inaccurate about that.

nicolec3 · January 2015

KonaCoffeeBean said:
First of all, I am really sorry you are going through this. Try not to let your mind wonder too much until you have the results of a diagnostic test.

Secondly, just a general comment, I don't understand why people refer to an abnormal result on a screening test as a "false positive." It's not a positive at all, just higher than ordinary odds. If the expected odds are 1:2,000 and yours are 1:100, then you're going to get some additional testing. "False positive" to me means being told your child as a condition, and then it turns out the child does not have the condition. The screening test just tells you what your odds are, are there is nothing inaccurate about that.

I agree with the positive/false positive. It sounds a lot less scary and intimidating if your doctor's office would call and instead of saying results are positive maybe say there is a 1 in 1,000 chance your baby has blank. It would have helped when I got my call 10 years ago and didn't understand. When we got genetic testing with my current pregnancy even the genetic counselor used the term positive. No it's a screening it is just the odds. While still upsetting I can deal with numbers.

alissadd · January 2015

KonaCoffeeBean said:

First of all, I am really sorry you are going through this. Try not to let your mind wonder too much until you have the results of a diagnostic test.

Secondly, just a general comment, I don't understand why people refer to an abnormal result on a screening test as a "false positive." It's not a positive at all, just higher than ordinary odds. If the expected odds are 1:2,000 and yours are 1:100, then you're going to get some additional testing. "False positive" to me means being told your child as a condition, and then it turns out the child does not have the condition. The screening test just tells you what your odds are, are there is nothing inaccurate about that.

I think positive is really bad wording for this sort of test since it isn't telling you definitively if you have something or not. Even the most logical people will freak out when they hear a doctor say a test came back positive. I think high or low risk is better wording for a test that is supposed to give you odds, not a yes or no answer. People who work with the public more are at higher risk to catch the flu, but they aren't referred to as 'positive'. They are at higher risk. I'm not arguing the accuracy of assessing that there is a risk, but labeling something using a word commonly thought of as black or white when the actual situation is grey is misleading.

jclx2 · January 2015

i'm sorry that you are going through this. particularly with the lack of communications from your OB. I had a similar situation. even though the quad screen test was done by the OB, the result was communicated by the genetic counselor. I was told that according to my age and baby's gestational age, the risk should be less than 1/375 but the test has come out to be 1/285. While they didn't label it as "positive", they said this means my baby has an increased risk of down syndrome. Also, when you calculate that in % points, the increase risk if less than 0.1%. As always, the quad screen test only search for markers and not actually diagnose the condition itself. Only amnio can do that. However, I understand all the emotions that you are going through right now. I had those moments too when I received the news and waiting to see the genetic counselor. My advice would be to ask for the numbers to see what your result is and that may help. Also, having an increased risk just means that you need additional testing. These screening test is not 100% accurate. I opted for a level II ultrasound. Unfortunately, the sonogram was done at 17 weeks so the MFM doctor didn't get a clear picture of the heart and face. Therefore, they couldn't give me an adjusted risk. I was given a choice of either an amnio or free cell fetal DNA test. DH and I opted for the DNA test and the result came back with a new adjusted risk of 1/10,000. I'm sorry that you are going through this. Again, my advice is to ask as many questions as you can when you see the genetic counselors. Demand for more information!

pixieprincss · January 2015

Ditto above about increased risk factor and not a "positive" and that the definition of 'false positive' is misused most of the time. This is terrible phrasing from the OBs office and it is unprofessional of them to have not explained to you what the increased risk factor is, perhaps even sending over the lab results, or perhaps requesting that you retest for certain risk factors. I had high AFP with DS1 and our risk of T18 or NTD was 1:170ish. I repeated the test and it was similarly flagged. After an ultrasound, T18 was ruled out at the NTD risk went to something like 1:2000. After much worry, our baby seemed to be born just fine. At about age 2, his body was big enough that we could finally see the tiniest extra dimple on his back that may, in fact, have been an NTD that closed up on its own. So, even in the case of a true "positive" there can be a huge spectrum of impact.

jelina · January 2015

My quad screen came back with a positive marker for an open neural tube defect with DD. The odds were 1:63. I opted out of the amniocentesis. She is a perfectly healthy 2.5 year old now.

alissadd · February 2015

Thanks everyone for your support. I am happy to report that the results from the genetic counselor were very positive. The baby is only at a 1:1000 risk of Downs (which is as low as it goes) so no worries there. There only thing that was elevated was my AFP. The counselor said my AFP was at 2.9 (2.5 and below is normal). She's never seen any birth defects with anyone less than 4.0. So I'm being monitored for possible signs of preeclampsia and premature labor. The ultrasound looked clean and they repeated the quad screening to see if the levels had changed. What a load off!

We also found out we're having a boy. We're very excited.

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