AMA and testing-update

lizok22 · December 2013

Hi all, so I will be 37 when LO is born and been given a ton of tests this pregnancy. First the nt and ultra screen which came up borderline for Down's syndrome. Then the maternit21 which was negative. Now my OB ran a quad screen which also came up high for downs. I thought she was just testing for spina bifida and NtDs. She called me herself to tell me that the maternit21 is only 99% accurate and asked if I wanted an amnio. (I don't). I have worried this Entire pregnancy and I feel like I cannot just be happy. We still have not told anyone because I am in constant fear. This is also my first pregnancy after 2 losses this year. Can anyone share some experience and can I just trust the maternit21 at this point? I searched online extensively and found a few false positives but no false negatives.

Update: had level 2 ultrasound/ early anatomy scan at 17 weeks and it could not have looked better. No soft or hard markers found and we are having a boy!

dragonfly711 · December 2013

Hello

I am 39 almost 40. I had the NT scan done and it was fine. We also did the Materni21 test and that was fine as well.

I had a loss in Feb and I honestly do not want an amnio. If we have a baby with Down's we will still be happy, hubby has a nephew with Downs.

I thought that some of these tests would come up high for Down's due to our ages.

dragonfly711 · December 2013

I found this, not sure if it helps you or not.

https://www.babycenter.com/0_nuchal-translucency-screening_118.bc?page=3#articlesection6

What do the results mean?You'll want to talk with your practitioner or a genetic counselor about how to interpret the results because unless you have a lot of experience with statistical analysis and evaluating medical tests, they can be confusing. And even if you're a wizard with statistics, you'll need help understanding your options.

You'll get your results in the form of a ratio that expresses your baby's chances of having a chromosomal defect.

For example, you may be told that your baby's chances of having Down syndrome are 1 in 30 or 1 in 4,000. A risk of 1 in 30 means that for every 30 women with this same result, one baby will have Down syndrome and 29 will not. A risk of 1 in 4,000 means that for every 4,000 women with this result, one baby will have it and 3,999 will not. The higher the second number, the lower the risk.

You may also be told that your results are "normal" or "abnormal," depending on whether they are below or above a specified cutoff. For example, some tests use a cutoff of 1 in 250. So a result of 1 in 4,000 would be considered normal because the risk that there's a problem is lower than 1 in 250. A ratio of 1 in 30 would be considered abnormal because that risk is higher than 1 in 250.

Remember that a normal screening result (screen negative) isn't a guarantee that your baby has normal chromosomes, but it does suggest that a problem is unlikely. Likewise, an abnormal screening result (screen positive) doesn't mean that your baby has a chromosomal problem — just that he's more likely to have one. In fact, most screen-positive babies turn out not to have a problem.

(If your baby's nuchal fold measurement is above the 99th percentile for his gestational age, he's also considered to be at increased risk for major congenital heart disease, so you'll be given a special ultrasound called a fetal echocardiogram. If your baby has a heart defect, he'll need to be monitored with regular ultrasounds and delivered at a medical center equipped to handle this condition.)

lizok22 · December 2013

Hi dragonfly, I've seen you around here a but.

You are lucky, dr. Says she didn't know why it as coming up elevated because all my hormone levels looked fine.

dragonfly711 · December 2013

not sure if their explaination helps or not.

https://www.mayoclinic.com/health/quad-screen/MY00127/DSECTION=results

Quad Screen

Results

By Mayo Clinic staff

Your health care provider will use your age, race and the results of the quad screen to gauge your risk of carrying a baby who has certain chromosomal conditions or neural tube defects. Other factors — such as your personal or family health history — also might affect your risk.

Quad screen results are given as a probability, such as a 1 in 5,000 risk of carrying a baby who has Down syndrome. Generally, the test is considered positive if the risk is 1 in 250 to 1 in 300.

Keep in mind that a positive quad screen simply means that levels of some or all of the substances measured in your blood were outside the normal range. This can happen for various reasons, including:

A miscalculation of how long you've been pregnant
A multiple pregnancy
In vitro fertilization
The presence of other medical conditions, such as diabetes
Smoking during pregnancy

If your test results are positive, your health care provider might recommend an ultrasound to verify the baby's gestational age and confirm the number of babies. During the ultrasound, your health care provider will also evaluate your baby's growth, study the placenta and identify possible abnormalities.

The quad screen correctly identifies about 80 percent of women who are carrying a baby who has Down syndrome. About 5 percent of women have a false-positive result, meaning that the test result is positive but the baby doesn't actually have Down syndrome.

When you consider your test results, remember that the quad screen only indicates your overall risk of carrying a baby who has certain chromosomal conditions or neural tube defects. A low-risk result doesn't guarantee that your baby won't have one of these conditions. Likewise, a high-risk result doesn't guarantee that your baby will be born with one of these conditions.

Often, positive test results are an invitation to consider secondary testing. For example:

Noninvasive prenatal testing. If you're at high risk of a chromosomal condition, you might consider a new prenatal screening test that analyzes fetal DNA circulating within your blood. This blood test evaluates your risk of carrying a baby who has Down syndrome, as well as various other chromosomal conditions — perhaps helping you avoid testing that's more invasive.
Targeted ultrasound. If you're at high risk of a neural tube defect, your health care provider might suggest a targeted ultrasound — perhaps accompanied by amniocentesis. Ultrasound isn't an effective screening tool for Down syndrome.
Chorionic villus sampling (CVS). CVS can be used to diagnose chromosomal conditions, such as Down syndrome. During CVS, which is usually done during the first trimester, a sample of tissue from the placenta is removed for testing. CVS poses a slight risk of miscarriage and isn't useful in detecting neural tube defects, such as spina bifida.
Amniocentesis. Amniocentesis can be used to diagnose both chromosomal conditions, such as Down syndrome, and neural tube defects, such as spina bifida. During amniocentesis, which is usually done during the second trimester, a sample of amniotic fluid is removed from the uterus for testing. Like CVS, amniocentesis poses a slight risk of miscarriage.

Your health care provider or a genetic counselor will help you understand your test results and what the results mean for your pregnancy.

lizok22 · December 2013

Thanks I already had the maternit21 and it was negative do I guess I fall into the 5% false positive range and should not worry. Haha easier said than done.

dragonfly711 · December 2013

lizok22 said:

Hi dragonfly, I've seen you around here a but. You are lucky, dr. Says she didn't know why it as coming up elevated because all my hormone levels looked fine.

oh man, i am sorry, not what you want to hear the Dr say. I know I would not want the amnio, I am too scared for that, unless I had to for some major reason.

dragonfly711 · December 2013

lizok22 said:

Thanks I already had the maternit21 and it was negative do I guess I fall into the 5% false positive range and should not worry. Haha easier said than done.

@ lizok22. yes easier said than done. I still worry about mc, I think I will worry this entire pregnancy. Not all the time but some days are worse than others.

MommyAtty · December 2013

I'm really confused as to why, after Materniti21, they did more testing. According to my peri and my OB, the new early tests (I did one through a diff brand, but the same concept) are as accurate as if not more accurate than amnio. With fewer risks. No test is 100% accurate but ones that take your baby's DNA out of your blood are pretty darned close. I think you should ask more questions or see if there's a genetic counselor you can talk with.

dragonfly711 · December 2013

MommyAtty said:

I'm really confused as to why, after Materniti21, they did more testing. According to my peri and my OB, the new early tests (I did one through a diff brand, but the same concept) are as accurate as if not more accurate than amnio. With fewer risks. No test is 100% accurate but ones that take your baby's DNA out of your blood are pretty darned close. I think you should ask more questions or see if there's a genetic counselor you can talk with.

I was thinking the same thing. i am really surprised they did not have you talk to a genetic counselor. When we were there, we were there for almost 2 hours talking to the counselor and having the US down. He went through everything and even did a family tree of our families.

Gave us options of testing it was so informative and crazy at the same time how much they can do now.

rcbuko · December 2013

My first child was a false positive for Downs Syndrome after the NT scan. We were offered the amino but declined because like you, I had already suffered two losses at that point and didn't want to risk the small chance of miscarriage from the amino. They did a level 2 ultrasound which showed no soft markers and she was born without Down Syndrome. With this pregnancy, I had the Verifi done as well as the NT scan and quad screen blood draw. The doctor didn't do the first trimester blood scan that normally accompanies the NT scan since I was already having the Verifi done. After getting the false positive with my first baby, I put more stock in how the baby looks visually on the ultrasound. Does the neck look good? Ask them if they can do a level 2 ultrasound to put you more at ease. I really think that you have nothing to worry about and that there is something that can explain away the blood results. The other ladies cited some good reasons for that.

lizok22 · December 2013

Thanks so much ladies for responding. Are you saying your doctor does not do further testing after the maternit21 is negative? They did offer a level 2 ultrasound which they said I can do this week. I would not terminate this baby unless they find fatal abnormalities. I have worked too hard to get here! This is all just so upsetting.

dragonfly711 · December 2013

lizok22 said:

Thanks so much ladies for responding. Are you saying your doctor does not do further testing after the maternit21 is negative? They did offer a level 2 ultrasound which they said I can do this week. I would not terminate this baby unless they find fatal abnormalities u have worked too hard to get here! This is all just so upsetting.

@lizok22

as far as I know I am not having any more testing just another US at 16 weeks and 20 weeks not sure from there from the same Dr office where I had my NT scan.

I go back next Thursday but I am only seeing the US tech not the Dr.

( I had NT scan and Materni21)

Beachgal72 · December 2013

I also had a scare after my quad scan where it came back as "positive" screen for Down's with a ratio of 1 in 92. But previously to that I had screened negative on my NT scan and associated bloodwork, and also screened negative on the Verifi test (same as Maternity 21). At that time my OB said I shouldn't worry and she did not recommend further, invasive testing unless something worrisome showed up at my anatomy scan. So I waited nervously for a few weeks until my anatomy scan and everything went just fine with that -- no soft markers, heart looked great, everything in proportion, etc. So again I was advised NOT to do an amnio unless I really really wanted to. I have decided that the majority of the tests all show no problems and from what I have read the quad is notorious for giving positive ratios to AMAs since the cutoffs are so low. If I were you I would trust the Maternity 21 results and wait for your anatomy scan/level 2 ultra to see if there is any reason to do further testing.

kelley72 · December 2013

just thoughts and prayers for you as I am confused also by why after good NT results and good Mat21 the "bad" results of the quad screen, which aren't as tailor made to you. I hope all goes wonderfully for the rest of your pregnancy and that your Level 2 ultrasound shows a happy healthy lo!

obscurereference · December 2013

I have heard that the quad screen is notorious for false positives. Like PPs, I'm really surprised they ran that test and I would ignore it if I were you!

lizok22 · December 2013

Thanks to all, it's good to see other older gala here dealing with the same issues! Beach gal, we have almost identical stats. Hopefully my ultrasound will go well this week. I must admit the anxiety is raised . So far, all scans have been good. Hope my good streak continues, I could use some good news. 2013 was awful, hopefully 2014 will be looking up!

MommyAtty · December 2013

lizok22 said:

Thanks so much ladies for responding. Are you saying your doctor does not do further testing after the maternit21 is negative? They did offer a level 2 ultrasound which they said I can do this week. I would not terminate this baby unless they find fatal abnormalities. I have worked too hard to get here! This is all just so upsetting.

Yes, my peri asked if I wanted amnio or any other testing, and when i said I had done the Panorama (diff brand of Mat21) with good results, she said "oh, then you're done. congratulations!" We did the anatomy scan that same day, and everything was fine. My OB does the anatomy scan for anyone AMA, regardless of test results, just to be sure there are no other issues. So that wasn't to check the Panorama, just his SOP.

QOTR · January 2014

congratulations on the updated report. I'm glad everything is looking well.

springbeduk2 · January 2014

So glad to see your update that everything looked good in the a/s! Hooray!

Also I agree with pp that it was strange they had you get so many tests done - With having the Maternit21, I didn't have to have any others done (even the NT scan) except for only just the one part of what would otherwise be a quad screen to check for spina bifida risk. In fact it didn't seem to even be an option to get more done in addition, until the a/s.

I hope the a/s results can help you relax and keep the PGAL-brain at bay (it can be so evil!) and enjoy getting ready to meet your baby boy!

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