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1st Trimester Screenings?

5K views 39 replies 14 participants last post by  Serafina33 
#1 ·
This is my first pregnancy being of "advanced maternal age" and I'm not very familiar with the newer types of screenings available.

I saw someone mention screening in the roll call (due date) thread.

What, if any, will you be doing? What's available?
 
#2 ·
I won't be doing any screenings except a 20 week US to check for any major abnormalities. But there is a new one out there called the Verifi test by progenity that checks for trisomies (trisomy 18,21, 13) Turner's and Klinefelter's as well as a host of other chromosomal abnormalities and you can also check baby's gender with this anytime after 10 weeks. You can google itThere's also one you can do if you're Rh negative to check baby's blood type so you know if you need RhoGam and that one can also test baby's gender. These are both blood tests.

Here's a link to progenity's site for more info: http://progenity.com/non-invasive-prenatal-testing.

I think the max cost is $200 if your insurance won't cover it.
 
#3 ·
I think we will be doing the Harmony or Verifi for peace of mind (my son has Down syndrome) however the result will not likely make a difference about whether or not we have a baby in July. I am very at peace about the whole thing. If anyone has questions about what having a child with Down syndrome is REALLY like (not the scary stuff you read on Wikipedia, in most cases anyway) feel free to PM me. Our son is absolutely wonderful and at almost 2 1/2 is a major stinker. He talks and walks and is extremely healthy and smart. :D
 
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#6 ·
I'm interested in these tests as well. We had a huge scare with my third pregnancy and dh is terrified of something happening again. It was a long, horrible month, of testing and amnios and ultrasounds. Seems like this could clear it up in one simple test.
 
#10 ·
This article is interesting as it explains that it isn't fetal cells that are tested in the mother's blood but placental cells.

This can result in false results:

In one of the presentations, the presenter explained how a patient had received a positive NIPT result that ultimately was found to derive from what's called "placental mosaicism." "Mosaicism" occurs in the case of triploidy where there is a triplicate of a chromosome in some, but not all, of the cells. In placental mosaicism, the placenta can have cells with triplicates of chromosomes while the fetus does not have any triplicate chromosomes in its cells. Indeed, the diagnostic test that can be performed in the first trimester, chorionic villus sampling ("CVS"), tests placental cells, and has returned results of Down syndrome even when the fetus does not have Down syndrome, because the particular placental cells tested had a triplicate of the 21st Chromosome.
 
#11 ·
You can also get false negatives, but they're pretty rare. I know hundreds of families of kids with Ds and I do know TWO moms who got a negative result on MaterniT21 and they did indeed end up having a child with Ds. So the tests are not infallible. No test is.
 
#12 ·
1st trimester screenings

Hi Mamas!

The tests you are referencing are all called cell-free DNA testing. It is able to differentiate maternal DNA from fetal DNA from the placenta. The tests listed above are different companies that offer the test. I believe that individual OB practices typically work with certain companies/labs. I don't know if you can pick your own. I work with an HMO group in an OB/midwifery office, so lack of choice could just be part of my setting, if you are going through insurance. The test is just a screening, so if it's positive and you want confirmation, they typically recommend amnio or cvs.

My first pregnancy I didn't do any testing besides the 20 week anatomy scan...now that I have a child my decision-making feels different. I anticipate having a baby in July, but feel strongly about having more information this time to prepare. Now I'm feeling protective of 2 babies, I guess!
 
#13 ·
I'm reconsidering my initial thoughts on the chromosome tests after reading a mama's story in the December DDC.

After getting positive results from a MaterniT21 screening, she went on to have an amnio and began leaking fluid from that point on. Ended up on bed rest IN the hospital from something like 23 weeks onward (when her membranes fully ruptured.) Ended up holding on to her babe until 31 weeks, iirc and she seems to be healthy, afaik.

I read one of her posts where she said something like: All because of the MaterniT21 because I wanted to find out the gender.

Eek.

And then there are the stories of the mom's whose babies were scarred by the needle during the amnio (one mom told that story, how her son was born with a large scar across his lower back) and others who lost their babies after amnios - some of whom were found NOT to have chromosomal abnormalities after all.

That's a lot to think about....
 
#14 ·
Well, I am only getting the maternal blood draw. I won't get an amnio... I would get a high level sonogram if needed to check something out but my reasoning for the test is that we homebirth. If I were to be carrying a baby with DS that could have a host of problems (one that is in my thoughts is heart issues) I would want to know what to expect so I could evaluate my birth choices. I would consider a hospital birth (and even then my hospital choice would change depending on the severity etc...)

Theblood test is not invasive to the baby at all and the results are really accurate. just my reasoning. :)
 
#15 ·
I'm supposed to schedule this for 2 weeks from now and I'm so torn!

Has anyone seen this article about how inaccurate the chromosomal screenings are?

I almost feel like I'm asking for trouble by doing this screening (and the nuchal translucency screening.) The lab I go to uses MaterniT21 Plus, the same screening the woman in the article used. :(

It was simpler when we didn't have all of these options.
 
#16 ·
I did see that, and talked to my midwife about it at my first appointment today. She said that in her opinion it's true that if you get a negative it's about 99% accurate but if you get a positive about half of those are false and worry parents unnecessarily, so while she's happy to refer me if I decide I want it (they don't do it in-house) she doesn't push it and a majority of her clients decide not to. After speaking with her about some of the implications if we did have a baby with a trisomy I've decided to only do the 18-20 week anatomy scan, and I'm feeling comfortable with that. It would be a relief if we got the test back with a negative but at least in my mind it's not worth the risk of a pregnancy's worth of worry if we got a (potentially false) positive because in any case I wouldn't be willing to risk the pregnancy to confirm with an amnio.
 
#18 ·
I've already scheduled the NT and blood screening. I'm pretty worried about false positives.

I only did the 20 week level 2 scan with my son. So this is new for me. I know what ever happens I'm not willing to risk amino.

I am just hoping for good news and will just deal with everything else as it comes.
 
#25 ·
I think just false positives and having to wait to find out? Or a false neg. I don't know... I wonder if the "knowing" is really worth the stress. ..it seem odds of a false neg are pretty slim. And I will be doing the 20week sono. I like to see where the placenta is and just see everything... I don't know. Midwife is out of town for Christmas. I could wait and call her for a long chat... I bet she would say skip it. I am 40, had a baby at 38, 36 and 34. All great pregnancies and very healthy babies. I don't know. Lol
 
#26 ·
I've scheduled the nuchal scan for the same time as the MaterniT21+ which includes a u/s. I'm not entirely comfortable with a u/s and if the baby is clearly trying to get away from it, I'll ask the tech to stop.

Between the nuchal and theMaterniT21, I think I'd feel secure in a negative.
 
#30 ·
I am not advanced maternal age but my midwife suggested the harmony screening test. However, my insurance doesn't cover it unless you are 35 plus or have another compelling risk factor, so I will just be doing the NT scan and associated blood work. Then, if that comes back abnormal , my insurance will pay for the harmony test.
 
#31 ·
Unless otherwise informed (something concerning comes up)- I won't be doing any of the early screenings and will do a blood draw at some point when I enroll a midwife into the picture. For now, while it would be super exiting to run upstairs and throw the doppler on my belly (!), it is not in my interest or intuition to begin the process of externalizing my own information. If it seems important, I am open to doing an ultrasound at some point but could easily go without. So much really depends on how things progress for me. I am 37 too!
 
#32 ·
Well, I just got back from getting blood drawn for the Harmony. Not 100% sure how I feel about it. I don't do any other testing except for a low level basic sono at 20 weeks. Mainly to locate the placenta etc for my peace of mind. so yeah.
 
#33 ·
So sometime next week...wow.

You were smart to have it drawn on a Monday. My appt. is Friday and I may or may not get the results next week - might have to wait until early the following week.

I'm going to have to find something to keep myself busy. I have actually thought this in other pregnancies (mainly my last [healthy] one) that I might be better off with a job outside of the home just so that my every thought isn't of the pregnancy. I've sort of grown to dislike the all-consuming thoughts and see other pregnant women who have many other things going on in their lives that they actually have conversations about other things. At least if it were spring/summer, I could garden my thoughts away - but it'll come and I'll still be pregnant and by then it will probably be even harder to think of anything else.

How are you doing with the waiting so far (after one day, lol)?
 
#34 ·
NT scan done, blood test weeks ago but the combined results won't come until next week. But preliminarily, the neck measurements were nice and short, everything seemed perfect to the gyn I saw. Wish I could do the harmony or maternit21 but just not available in Europe. I wonder if I'm being a little paranoid though, I mean I just turned 35 a couple weeks before conceiving so it's not like a horrible switch was flipped in my ovaries that very month to make a fourth healthy child unlikely... I've got a perfect history with my reproduction --besides preterm labor contractions being a bit bothersome (but never actually becoming a real problem for any of my kids). But then again my eggs are just all the time aging. Blah, so stressful, wish I had convinced my husband to start this batch of babies (my two boys are from a decade ago when I was married young to a different man) a couple years earlier so I could feel as confident in this pregnancy as I did last year when I was 33 & pregnant with my daughter.
 
#35 ·
I was 33 in my last pregnancy, too.

I read that most chromosomal abnormalities come from the sperm; has anyone else read that? Not that it makes me feel any better since DH wears his stupid smart phone on his belt most of the time. :(
 
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