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01-03-2013 at 7:31 PM
NeinerBopp...
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Genetic Disorder Testing / How to tell the gender?

Hi Ladies-

I have my second appointment tomorrow & know the topic of genetic disorder testing is going to come up. My husband & I early on decided we didn't want it, because no matter what, we'll love the baby God has blessed us with. After much consideration, we think maybe it might be a good way to prepare our minds. HOWEVER, it depends on how they test. So, how do they test?

The second part of my post might sound a bit crazy- but early on, a poster mentioned that she had some sort of test that was able to tell the gender of her baby (not an ultrasound). Does this sound familiar to anyone? Our first ultrasound, our baby was curled up with his/her legs crossed- & hubby & I want to find out the gender at 20 wks, but we're afraid they won't be able to tell. Does anyone know of a test out there that reveals the gender?

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01-03-2013 at 7:33 PM
RussianMom...
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do you have an A/S coming up soon?? if so, have some candy or OJ and that should get baby to jump around to show you the goods.
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01-03-2013 at 7:34 PM
savannah_g...
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NeinerBopper13:

Hi Ladies-

I have my second appointment tomorrow & know the topic of genetic disorder testing is going to come up. My husband & I early on decided we didn't want it, because no matter what, we'll love the baby God has blessed us with. After much consideration, we think maybe it might be a good way to prepare our minds. HOWEVER, it depends on how they test. So, how do they test?

The second part of my post might sound a bit crazy- but early on, a poster mentioned that she had some sort of test that was able to tell the gender of her baby (not an ultrasound). Does this sound familiar to anyone? Our first ultrasound, our baby was curled up with his/her legs crossed- & hubby & I want to find out the gender at 20 wks, but we're afraid they won't be able to tell. Does anyone know of a test out there that reveals the gender?

Thanks! 

1) It depends on which test it is. Ask you Dr. Some are blood test from you, others are CV sampling or an amnio.

2) If they do an actual genetic testing of the fetus, they can tell the gender. XX vs XY 
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01-03-2013 at 7:38 PM
elmoali
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You're too far for the standard "early" testing. What you'd have now is what you'll have anyway, which is an anatomy ultrasound.  If you mention it to your doctor they may possibly run some bloodwork but those are the standard first steps and more invasive procedures only come into play if there's a potential issue.
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01-03-2013 at 7:39 PM
CelticWife
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There is a blood test that can be done to determine gender around 7 weeks. It is not widely used in the usa, but I have some friends in europe who had it done. The purpose is to determine gender to see if genetic testing is needed later in pregnancy because of the gender.
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01-03-2013 at 7:41 PM
skio
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How far along are you? I can't see sigs.

If you're talking about the NT Scan/First Tri Screening, it is optional and it is only a screening, not a test. It is a blood draw [from you] and an ultrasound.

As far as the sex determination, do you mean is there a way to tell sex at the NT scan? If so, the answer is maybe, but it's only a guess at that early a stage. Some seasoned techs will make a guess based on the angle of the genital nub in relation to the spine.

Tests that actually give definite answers as to disorders are generally more invasive; like CVS and Amnio. But there is also the new MaterniT21 test, which I believe is just a blood test. All three can also conclusively tell you the sex of the baby.

If you're in second tri, though, you're too far along for the NT. The anatomy scan is standard.


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01-03-2013 at 7:43 PM
RussianMom...
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skio:
How far along are you? I can't see sigs. If you're talking about the NT Scan/First Tri Screening, it is optional and it is only a screening, not a test. It is a blood draw [from you] and an ultrasound. As far as the sex determination, do you mean is there a way to tell sex at the NT scan? If so, the answer is maybe, but it's only a guess at that early a stage. Some seasoned techs will make a guess based on the angle of the genital nub in relation to the spine. Tests that actually give definite answers as to disorders are generally more invasive; like CVS and Amnios. But there is also the new MaterniT21 test, which I believe is just a blood test. All three can also conclusively tell you the sex of the baby.

she's 16 weeks 

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01-03-2013 at 7:45 PM
MotherMayE...
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I think you are referring to the MaterniT21 test. That's what I had at 11.5 weeks and found out I am having a girl with the results. They take two vials of your blood, extract the baby's DNA from it and replicate the DNA over five days. Then they test it for three trisomies and some other disorders.

[EDIT: They can perform the MaterniT21 test anytime after 10 weeks.]
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01-03-2013 at 8:14 PM
redaero
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There's some fairly new genetic testing on the market now that involves isolating fetal DNA from maternal blood, and it's supposed to be over 99% accurate. It's just a blood draw, so there's no risk to the pregnancy. They can check for trisomies 13, 18, and 21. Some brands of the test can also check the sex chromosomes for disorders like monosomy X, XXY, etc., and if they're normal will just report the sex of baby (XX or XY).

MaterniT21 and Verifi are the two that I'm aware of, although I think there's another one. (Harmony? Not sure.) Not all providers are offering the tests, though, and some providers want you to meet certain higher-risk criteria before they'll offer it to you, like being over 35 or having a history of genetic disorders. Ask your doc!
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01-03-2013 at 8:47 PM
MommyLizzy
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redaero:

There's some fairly new genetic testing on the market now that involves isolating fetal DNA from maternal blood, and it's supposed to be over 99% accurate. It's just a blood draw, so there's no risk to the pregnancy. They can check for trisomies 13, 18, and 21. Some brands of the test can also check the sex chromosomes for disorders like monosomy X, XXY, etc., and if they're normal will just report the sex of baby (XX or XY).

MaterniT21 and Verifi are the two that I'm aware of, although I think there's another one. (Harmony? Not sure.) Not all providers are offering the tests, though, and some providers want you to meet certain higher-risk criteria before they'll offer it to you, like being over 35 or having a history of genetic disorders. Ask your doc!

 ^^^^

This

I've heard its pretty expensive, and insurance will only cover it if you have markers for downs, or if you have other high risk problems that the test could help diagnose (this is info coming from my perinatologist).

 
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01-03-2013 at 8:54 PM
TheyCalled...
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it's called the jack and jill test, it's a blood test only offered at some facilities as part of your NT scan blood work
 
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01-03-2013 at 9:02 PM
mrandmrsk9...
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Where you're at in your pregnancy, they'll most likely do a quad screen.  That's a blood test that checks for your risk of Trisomy 18, Trisomy 21 (Downs), and Neural tube defects. If you've had an NT scan, they probably already ruled out the Neural Tube defects, but if you wanted, they would have you do a quad screen before anything else (CVS/Amino).  Depending on how old you are, most OBs will not recommend CVS/Amnio until you're 35 because of the risk of miscarriage. 

Materni21 tests do show gender, but aren't recommended unless you're risk level is higher (I was offered one when my LO showed 2 low risk markers for downs on the Level 2 ultrasound, but turned it down because of the cost and the fact that she didn't have any high risk markers). 

I'd stick with the quad screen and wait the 3-4 weeks for your a/s to find out the gender. We waited until then to find out and it was totally worth the wait. 

 
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01-05-2013 at 10:13 AM
mgm84
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I had a CVS test at 11 weeks and found out it is a girl (who is also a carrier of my chromosome abnormality, but otherwise healthy).  However, you cannot have it after 13 weeks, so your only other options I think are amnio, MaterniT21, or a/s.  By the way, after having a CVS test, and talking to people, I now realize they are not very common.  Has anyone else had one?
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01-11-2013 at 4:31 PM
melgulledg...
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I had a normal Quad screen which is listed in most of the other posts. I also just had the DNA testing done through my blood yesterday. The Dr said that it will take 2 weeks for it come back. They seen something fishy on the ultrasound and ordered the test. I like you will love my little girl regardless. I just would like to know. I am pretty shaken about the whole thing.

 
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01-11-2013 at 5:30 PM
GraceInCA
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mgm84:
I had a CVS test at 11 weeks and found out it is a girl (who is also a carrier of my chromosome abnormality, but otherwise healthy).  However, you cannot have it after 13 weeks, so your only other options I think are amnio, MaterniT21, or a/s.  By the way, after having a CVS test, and talking to people, I now realize they are not very common.  Has anyone else had one?

I had a CVS.  It was a little uncomfortable like a pap but otherwise painless, and the reassurance from the results was great - it's diagnostic and not a screening so you know for certain.

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01-11-2013 at 5:33 PM
GraceInCA
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To the OP, keep in mind that most of the testing you can receive now is a screening and will give you percentages - it won't be diagnostic.

A CVS is diagnostic, but it's invasive, and you're out of the window for it.

An amnio is also diagnostic and invasive, and you're still within the window.

The genetic blood screenings like Materni21 and Verifi are close to diagnostic because they can detect with a very high percentage (over 90), however, they only test for the three major trisomies, not everything. Those three trisomies combined only make up about 40% or so of all potential disorders, so people who think that is diagnostic the way an amnio or CVS would be are mistaken. The advantage is that it's just a blood draw, so not invasive like CVS & amnio.
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