Prenatal Screening Tests

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Many parents consider prenatal screening tests to check for abnormalities with their fetus, like Down Syndrome (Trisomy 21), Trisomy 18 (Edwards Syndrome), Trisomy 13, Trisomy 13 and Triploidy (known as the "trisomies"). With some some tests more invasive and riskier than others, parents wonder if it's worth it. Here, PSP members share their experiences with the different types of prenatal screening tests available.

 

Important Message from Park Slope Parents (PSP): Just a reminder, PSP member posts are not checked for accuracy. The content is for general informational purposes only and is not a substitute for medical advice. www.parkslopeparents.com is not intended to, and does not, provide medical advice diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on the PSP groups or on the www.parkslopeparents.com website.

 

This article talks about these specific tests:

 

Maternit21 Test - is a blood test that looks at the fetal DNA to determine whether the fetus carries an extra copy of chromosome 21 that causes Down syndrome. It can also reveal the sex of your baby.

Nuchal Test - is performed at 11 - 14 weeks and is an ultrasound that can help identify chromosomal conditions like Down syndrome.

Harmony Test - is a blood test that can detect the trisomies and down within 10 weeks from pregnancy.

Verifi Prenatal Test - is a blood draw that tests for the trisomies and is done in the first trimester.

Quad Screening - is a blood test done around 16 - 18 weeks and checks for AFP, hCG, estriol, Inhibin-A to check for things like spina bifida or anencephaly.

Amniocentesis and Chronic Villus Sampling (CVS) - is a more invasive procedure done at around 15 or 16 weeks that looks at the amniotic fluid that surrounds the fetus. It is done by putting a needle through the belly and into the uterus. It checks genetic information

 

What Parents Say:

 

MaterniT21 Test:

"We did the MaterniT21 test recently, at 10 weeks. We are in a bit of an odd situation, so it was done just in advance of CVS, which was necessary for different reasons. My provider said that if my insurance company did not happen to cover it, the maximum charge would be $250. Results came back quickly -- about 9 business days  -- and included info about T21, T18, T13 (and sex of the baby). We found them reassuring, given that results on these fronts from other testing were not expected for another 3-5 weeks. My understanding is that NT scanning is more inexact than these early blood tests but, as others have said, they are still collecting data since it is all very new."

 

Nuchal Test:

"After reviewing the literature, my husband and I elected not to do this early testing, and only to do the nuchal test.  There were several reasons: 1) we don't have a family history of chromosomal disorders; 2) we did not need to know the sex of the baby that early; 3) we knew that we would not end the pregnancy due to chromosomal disorders (Down Syndrome, etc).  I did the nuchal test and came back with excellent results, validating our choice not to do the early testing. Monthly ultrasounds gave us additional peace of mind (I was considered "high risk" because I was 35)."

"I had a nuchal translucency with my first when I was 38 because the advanced testing was not available yet.  I had the MaterniT21 with my second when I was 40 because it was available.  My understanding is that it is more accurate than a nuchal and almost as accurate as an amnio without the invasive aspect.  As I recall, it was performed around 12 weeks and is just a blood draw.  We got the results back shortly thereafter and a bonus is that you can also find out boy or girl at that time if you want to know.  With my second, they still did the nuchal measurements at my 20 week ultrasound, but I can't remember if I got the same blood workups that go hand in hand with that as I did with my first, since we had already gotten the results back from the MaterniT21 and weren't concerned anymore.  It wasn't cheap because it wasn't entirely covered by my insurance - I think we ended up paying about $1K in the end.  The cost will vary depending on your insurance.  You should call your insurance provider directly and ask."

"Hi! I had genetic testing done at Methodist Hospital. I didn't have too much of a choice (I was 36) and it went well. Our genetic counselor was very nice and informed. I had the Nuchal, then the blood test. I did not have an amnio because the blood test is 99% accurate. I also received all my ultrasounds at Methodist. I would recommend scheduling appointments early in the day. Also, parking is always difficult around there."

 "My understanding is that the nuchal test has a high false positive rate, and the new blood tests like the panorama etc. are overall more accurate. With my son I had a false positive on the nuchal (1/20) and was encouraged strongly to do the CVS. It wasn't that bad but it DID hurt (I had the abdominal version) and I did have both cramping and bleeding for a few days.  I wanted to chime in because some of the replies sounded like they didn't have pain.  It was pretty stressful waiting for the result (and waiting to be sure I wouldn't miscarry from the test).  My son was fine! Later on overall I was glad I did it, but I do feel I was sort of scared into an invasive procedure that has significant risks.  I am rh- and I am not sure anything that invades the baby's space/mixes your blood with theirs, etc. is actually a good idea. I am not sure I will ever take the nuchal test again!"

Harmony Test:

"Congratulation! I had Harmony done because I was already 35, when I had my 3nd one. According to my OB, it's 99% accurate. I choose harmony instead of the maternity21 because it's a bit cheaper ($800 for harmony compare to $2,500 for maternity21), just incase my insurance doesn't cover it. The result for will be the same, except maternity21 will tell you if you are having a boy or a girl. It's non invasive testing and I suggest you go for it."

"I had the early blood test, although not in Park Slope.  I am glad I had it done.  I was the first in my practice (Midwifery of Manhattan) to get the test (my daughter is now a year old) at Roosevelt St. Lukes.  I had the nuchal and quad screening and it came back with a slight risk for downs.  We saw the genetic counselor and my choices were: this new blood test; CVS; amnio; or no further testing.  I chose the new blood test (which came back as an infinitesimal chance for downs).  I don't remember the brand (maybe Harmony?).  Your provider should tell you if it replaces the nuchal and quad (I don't know the answer) but I do know that the blood test can only detect chromosomal defects (like trisomy and downs), so you will still need ultrasounds to assess for structural growth, etc. If I get pregnant again, I'd definitely get the blood test again."

"I had both Harmony and MaternT21 done AFTER my NST came back clean. This was just to confirm the information provided by the NST. I thinkmost women are still getting the NST done regardless if they qualify for the cell-free DNA screenings."

 

Verifi Test

"I got the Verifi test done.  I did that brand versus one of the others because it was what my doctor's office offered.  I googled extensively and thought they all sounded more or less comparable/similar, so I'm not sure whether there is a significant benefit in doing one over another.  My doctor felt that the Verifi was exceptionally accurate (99.1% was the number she quoted); based on my google research, I came to the conclusion that a negative result was indeed very accurate but that these tests were more likely to give a false positive than a false negative.  So I tried to prepare myself for that possibility.
My doctor advised doing the Nuchal in addition to the Verifi.  She said that the Nuchal tests for certain other defects that these blood tests do not test for.  Also, if you are like me and worried about probabilities, the Nuchal combined with the Verifi is more reassuring than the Verifi alone. I thought I was going to have to maybe pay a large co-pay or meet my deductible for the test, but so far, I have not seen a bill.  I only took the test about six weeks ago, though, so maybe the bill is still coming.  My understanding is that many of these tests will limit your out of pocket payment to only a certain amount, regardless of what your insurance covers, because they want to encourage people to use them.  I was over 35, though, so my "advanced maternal age" qualified me for pretty much any prenatal testing I wanted to do.
Now that it's over, I'm very glad I did it.  But that's easy to say because my tests came back negative (good results).  But since my insurance paid for it, for me, I didn't really see much downside.  The Verifi was completely non-invasive to the baby (just a needle for the blood draw in my arm).  The Nuchal was also pretty harmless (blood draw plus ultrasound).  I did feel some anxiety while waiting for the test results, but I think not knowing (or relying only on Nuchal) would have been worse for me personally.  And I didn't want to get CVS or amnio (just a personal feeling after already having dealt with pregnancy loss, not judging anyone's choices).  These are all such personal choices, but for me, more information is better, so I opted for any test that didn't carry a risk of harm to the fetus. Also, we were not interested in knowing the sex this early, but if you want to know the sex, they can tell you the sex as well.  Which may or may not be a benefit to you."

 

CVS testing

"I had my first baby at 36, my second at 40. I had an amnio the first time around and a CVS the second but don't remember why I went with a different procedure the second time. The amnio was more scary and upsetting for me, but it could have berm because I didn't like that doctor and it was my first baby. Afterward I went home and had a glass of wine (recommended) and rested. The CVS felt easier. The worst part was that they do it with a full bladder."

"I agree with the other posters that the procedure itself isn't awful. I had a  CVS done vaginally. Due to the location of the placenta there wasn't an option of using the abdominal needle but I gladly would have chosen the needle over vaginal!
The main benefit, as I saw, for CVS over Amnio is you are able to Get the test done much earlier in your pregnancy. This, we felt, was an advantage both in caring for our existing child as well as medically for myself. Any subsequent procedures you might choose have lower medical risks to the woman the earlier it is performed in terms of pregnancy.  There are also more assured results in using genetic material harvested from the placenta than what you get from blood work.
Talk openly and honestly the whole way through this with your partner and good luck."

"It wasn't that bad but it DID hurt (I had the abdominal version) and I did have both cramping and bleeding for a few days.  I wanted to chime in because some of the replies sounded like they didn't have pain.  It was pretty stressful waiting for the result (and waiting to be sure I wouldn't miscarry from the test).  My son was fine! Later on overall I was glad I did it, but I do feel I was sort of scared into an invasive procedure that has significant risks.  I am rh- and I am not sure anything that invades the baby's space/mixes your blood with theirs, etc. is actually a good idea. I am not sure I will ever take the Nuchal test again!"

 

As one mother reminds the group:

"A few important things to note about all these tests - including NST: they are merely screening tools. They are NOT absolute guarantees that a potential issue is present or not. There is a certain % of false-positives that will require further screening (likely amino as next line of testing). I personally was comfortable enough--and so was my doctor -- following the results of the three aforementioned tests to not get an amino. As opposed to these non-invasive screening tools, the amino carries a certain amount of risk of miscarriage that I was wasn't willing to take on.

In my case, my insurance paid for both tests. These tests have a high retail sticker price, but even if your insurance won't pay for it, you can get MaternT21 for, I believe, approx. $150. You need to contact their billing department. They offer this "discounted rate" because all of these tests need to increase their pool of testees in order to improve these tests.

So, would I do it all over again? Yep! But what I would urge anyone to do is make sure you understand how these tests work, what they test for, etc. I have seen many women falsely think they are 100% in the clear once they get negative results on all trisomies. This may not be the case in the same way if you get a positive result it may be false.