genetic testing

mommyof4791115 · June 2014

Is anyone else going to get the genetic test done.. If so what does it consist of? Iv never done it with my other four but they was asking this time around for it.

HerHighness · June 2014

Are you talking about the quad screen? If you never had issues with previous pregnancies they usually dont offer any other testing unless you are AMA. A quad screen is just a basic blood draw.

There are several different kinds of tests. They test for different things. Ive heard of CVS! Harmony, mat21, NT scans and amnios.

I had an amnio with my last child because the ultrasound showed irregularities. I dont recommend this unless necessary as there is a risk of miscarriage.

elephantsonpatrol · June 2014

Had the harmony last time around - will probably do mat21 this time. Doc prefers the dna test over cvs

Lrjjj08 · June 2014

I know they do one for cystic fibrosis. If you are a carrier, then they check your husband...I think. I got tested with my second because of friend of mine had a daughter born with cf.

elephantsonpatrol · June 2014

I didn't have to pay anything for the Harmony test but I think that's b/c Labcorp gave up trying to get BCBS to pay. Mat21 is not covered by my insurance but the company charges a flat fee of $230 for anyone whose insurance says no. Well worth it IMHO

mommyof4791115 · June 2014

I did the CF with my second pregnancy and I am not a carrier, this testing they said would consist of an ultrasound and my blood with draw.. I wasn't sure if they take blood from the baby to or no.. All my other 4 have all came out completely healthy and no complications..

Erze · June 2014

Newp. 1 in 100 chance of miscarriage is way too high for me.

Irishcurls · June 2014

I wouldn't do an amniocentesis for all but the worst case scenario. Fetal DNA from blood? I'm all about it. I have no reason to think I'd need it but if I did, I love knowing science has given us such a great option!

elephantsonpatrol · June 2014

And either test will tell you your team

one2andnow3 · June 2014

I had an amnio with my second. I do not recommend it at all. Extremely painful. Risk of miscarriage and bad cramping for 24 hours.

amt0312 · June 2014

crcostelWed158933 said:

I didn't have to pay anything for the Harmony test but I think that's b/c Labcorp gave up trying to get BCBS to pay. Mat21 is not covered by my insurance but the company charges a flat fee of $230 for anyone whose insurance says no. Well worth it IMHO

Not always true- I had to pay the full amount. It depends on your situation and whether or not Sequenom views your case as appropriate use of the test. I was not AMA but did screen positive on my nuchal translucency screening. I was told by the genetic counselor that she's had very few people have to pay the full amount. Well, I was one of them.

junebugjam · June 2014

2013sarabelleATX said:

amt0312 said:

crcostelWed158933 said:

I didn't have to pay anything for the Harmony test but I think that's b/c Labcorp gave up trying to get BCBS to pay. Mat21 is not covered by my insurance but the company charges a flat fee of $230 for anyone whose insurance says no. Well worth it IMHO

Not always true- I had to pay the full amount. It depends on your situation and whether or not Sequenom views your case as appropriate use of the test. I was not AMA but did screen positive on my nuchal translucency screening. I was told by the genetic counselor that she's had very few people have to pay the full amount. Well, I was one of them.

Curious. What was the full amount?

Not sure about Mat21 but I had the Harmony test and it would have been $2000 but I didn't get charged.

junebugjam · June 2014

aleigha85 said:
I had an amnio with my second. I do not recommend it at all. Extremely painful. Risk of miscarriage and bad cramping for 24 hours.

I had an amnio also, but I just wanted to add that my experience was not the same, for anyone who mat need amnio down the line. It was uncomfortable mostly just as the needle came out, but I wouldn't say it was extreme pain. And I thankfully didn't experience much cramping at all.

That being said, I still wouldn't recommend it unless under the worst circumstances. I didn't really want to do it because I was worried about miscarriage (I did not have one) but we felt it was necessary.

It sounds like the testing OP is talking about might just be an NT scan and quad screen. No harm in those and I plan to repeat them with this pregnancy.

OmSweetOm · June 2014

After getting a CVS with my last pregnancy 7 years ago I am beyond stoked for the new variety of maternal blood tests available now. Since I have a history, I would pay anything to get this peace of mind- but, naturally hope I do not have too!

kdhuling · June 2014

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

junebugjam · June 2014

kdhuling said:
I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

I'm sorry, but that's the ONLY reason you're having a $2000 test? I hope you're lucky enough to not need it for its actual purpose.

HerHighness · June 2014

My amnio wasnt painful. It felt like a strong period cramp. It didnt last very long. I had to take it easy for a day or 2 after.

I have also heard horror stories about DRs telling patients that the mat21 and harmony tests would be covered and then patients receiving bills for thousands of dollars. If i can get one (i dont think my OB offers them) i will be calling my insurance company before i let them send the labs.

HerHighness · June 2014

kdhuling said:

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

Calm your tits and wait for the anatomy scan like most of the women on earth. You should be so lucky that you've never had an issue and that you dont need expensive genetic testing.

tee18 · June 2014

I didn't have any testing done the first time around. My son was born with a birth defect with his intestines, so my doc recommended the "full integrated screen." It's one blood draw between 10-13 weeks, ultrasound at around 13ish weeks, and another blood draw at 15 weeks +. I think the full integrated screen is mainly used to test for trisomy's/down's syndrome. I'm new too all of the lingo, so sorry if that's off. Our doc really wants to check the intestines during the scan too. But it's not invasive in the way amnio is so it's fine by me!

angelg3134 · June 2014

I got the Harmony done after our diagnosis, they asked me if I wanted to do it again. I will. But not an amnio unless its necessary. My insurance does not cover it.

camilu87 · June 2014

I thought about doing some of these because I have no idea any family history for my bio dad and his family. I won't do anything that could harm the baby though. I won't care if baby has a condition or not, I will love him or her just as much.

OmSweetOm · June 2014

camilu87 said:
I thought about doing some of these because I have no idea any family history for my bio dad and his family. I won't do anything that could harm the baby though. I won't care if baby has a condition or not, I will love him or her just as much.

As someone who had to get something done- I think it's important to realize it's 100000% not about not loving your child if something were "wrong". There are some conditions is which the child can be born in agony- and only live a very short time. There are also women who feel in order to prepare they need to know as soon as possible. I'm not sure why these tests seem to be so commonly associated with termination or not "wanting" a child with an issue.

mommy5point0 · June 2014

HerHighness said:

kdhuling said:

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

Calm your tits and wait for the anatomy scan like most of the women on earth. You should be so lucky that you've never had an issue and that you dont need expensive genetic testing.

You reminded me of this:

elephantsonpatrol · June 2014

Last I looked the list price of the Harmony was only $800, but they may have hiked it up since everyone else is over $1500

Erze · June 2014

kkleigh10 said:

Erze said:

Newp. 1 in 100 chance of miscarriage is way too high for me.

You realize most genetic testing doesn't come even close to a 1/100 chance of miscarriage, right? That statistic applies to an extremely specific test that is used only in very narrow circumstances. Even an amniocentesis has better odds than that.

Screenings for Downs, Trisotomy 18 and other chromosome abnormalities can be done via maternal blood DNA sampling (like a Mat21 test) and carries no chance of miscarriage as its a simple blood draw.

I think it's a little irresponsible to run around saying "nope! No genetic testing for me because of the miscarriage risk!" when in reality, the vast majority of genetic testing doesn't even come close to the statistic you threw out there.

On another note: yesterday my OB told us they highly recommend the Mat21 screening for all of their patients. Hopefully we'll get great genetic results so we can rest easy. We'll also know peanut's sex on July 22nd!

@kkleigh10

Oh man! I was waiting for this. Clearly, I was talking about the invasive testing that carries the number "I threw out there".

I answered a question that was asked and gave a statistic that my OB gave us for invasive testing. If I'm afraid of a miscarriage, I think it's safe to assume that is testing I am speaking of.

Further, it is the decision made between my boyfriend and I. We have a pretty good idea of our genetic history and the invasive testing is what we had issues with.

If its irresponsible that we aren't doing invasive testing, whatever. I'm certainly not going to apologize for expressing my opinion and it not meshing with yours.

aggiebug · June 2014

@erze. It was clearly NOT clear you were talking about one specific and invasive test. You threw out a general statement with a specific statistic to cause controversy.

Her response was far from bitchy. It actually had valid and complete information. Unlike you false info. And yes it is false. You purposefully used incomplete information to validate you opinion.

Erze · June 2014

@aggiebug - Whatevs.

bhjones1980 · June 2014

2013sarabelleATX said:

crcostelWed158933 said:

Had the harmony last time around - will probably do mat21 this time. Doc prefers the dna test over cvs

(Pardon the thread-jack.) Was a portion of the Harmony covered by insurance? Do you know if the Mat21 is?

My doctor said Maternti21 is covered for AMA patients (YAY ME!)

Ill be doing that

wintersong139 · June 2014

kkleigh10 said:

Erze said:

Newp. 1 in 100 chance of miscarriage is way too high for me.

You realize most genetic testing doesn't come even close to a 1/100 chance of miscarriage, right? That statistic applies to an extremely specific test that is used only in very narrow circumstances. Even an amniocentesis has better odds than that.

Screenings for Downs, Trisotomy 18 and other chromosome abnormalities can be done via maternal blood DNA sampling (like a Mat21 test) and carries no chance of miscarriage as its a simple blood draw.

I think it's a little irresponsible to run around saying "nope! No genetic testing for me because of the miscarriage risk!" when in reality, the vast majority of genetic testing doesn't even come close to the statistic you threw out there.

On another note: yesterday my OB told us they highly recommend the Mat21 screening for all of their patients. Hopefully we'll get great genetic results so we can rest easy. We'll also know peanut's sex on July 22nd!

In terms of finding out the sex, this has got to be more accurate than a tech searching for a little turtle or hamburger. :-)

bhjones1980 · June 2014

kdhuling said:

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

nope, nope, can't even deal this early in the morning.

wintersong139 · June 2014

bhjones1980 said:

kdhuling said:

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

nope, nope, can't even deal this early in the morning.

Is this a gender/sex thing? Because that is one Bump argument that really annoys me every time, just because it crops up WEEKLY. PSA to everyone, just please always say sex, not gender, because otherwise we will have to have a discussion about it every time.

@bhjones - I promise I'm not calling you out or anything, I totally get what you are implying. It's not correct to say gender. Gender is a social construct, sex is genetics. I like to say sex just because I try to be particular with my semantics all the time. It is just one of my Bump pet peeves to have to watch the same discussion over....and over....and over...

aggiebug · June 2014

@wintersong139‌ I think it is testing for sex instead of concern for the health of the baby.

It's like those that are upset with their a/s because they could see everything except the sex. It's not a sex scan is it checking the health of your child.

bhjones1980 · June 2014

wintersong139 said:

bhjones1980 said:

kdhuling said:

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

nope, nope, can't even deal this early in the morning.

Is this a gender/sex thing? Because that is one Bump argument that really annoys me every time, just because it crops up WEEKLY. PSA to everyone, just please always say sex, not gender, because otherwise we will have to have a discussion about it every time.

@bhjones - I promise I'm not calling you out or anything, I totally get what you are implying. It's not correct to say gender. Gender is a social construct, sex is genetics. I like to say sex just because I try to be particular with my semantics all the time. It is just one of my Bump pet peeves to have to watch the same discussion over....and over....and over...

No (although it is a pet peeve of mine)

it is about this line: "Only because they tell you the gender early on and I realllllyyyy want to know."

bhjones1980 · June 2014

aggiebug said:

@wintersong139‌ I think it is testing for sex instead of concern for the health of the baby. It's like those that are upset with their a/s because they could see everything except the sex. It's not a sex scan is it checking the health of your child.

Right, if you want to know the sex so badly go to one of those optional US places that do it just "for fun", don't tie up medical resources with expensive genetic testing when ALL you care about is the sex.

Irishcurls · June 2014

bhjones1980 said:

aggiebug said:

@wintersong139‌ I think it is testing for sex instead of concern for the health of the baby. It's like those that are upset with their a/s because they could see everything except the sex. It's not a sex scan is it checking the health of your child.

Right, if you want to know the sex so badly go to one of those optional US places that do it just "for fun", don't tie up medical resources with expensive genetic testing when ALL you care about is the sex.

Yes, exactly. I don't pretend to care if others are dyinggggggg to know the sex of their baby three weeks before "the rest of us" but FFS, don't clog up the already struggling system.

wintersong139 · June 2014

bhjones1980 said:

wintersong139 said:

bhjones1980 said:

kdhuling said:

I won't do the amnio unless there are irregularities spotted and my Dr. recommends it. I will do either the harmony or mat21 though. Only because they tell you the gender early on and I realllllyyyy want to know.

nope, nope, can't even deal this early in the morning.

Is this a gender/sex thing? Because that is one Bump argument that really annoys me every time, just because it crops up WEEKLY. PSA to everyone, just please always say sex, not gender, because otherwise we will have to have a discussion about it every time.

@bhjones - I promise I'm not calling you out or anything, I totally get what you are implying. It's not correct to say gender. Gender is a social construct, sex is genetics. I like to say sex just because I try to be particular with my semantics all the time. It is just one of my Bump pet peeves to have to watch the same discussion over....and over....and over...

No (although it is a pet peeve of mine)

it is about this line: "Only because they tell you the gender early on and I realllllyyyy want to know."

Rant retracted.
Now I feel sheepish....
I would blame is on hormones, but that is another of my pet peeves. ;-)
I Feel Sheepish photo tumblr_lokeqeYlRB1qf4qpho1_500.gif

I Feel Sheepish photo tumblr_lokeqeYlRB1qf4qpho1_500.gif

Mommy2CB · June 2014

Our first pregnancy ended in loss and was confirmed at a hospital via ultrasound. They saw I had an issue with my uterus (septate) at the time so they sent us to a fertilty specialist to be confirmed and to basically go on from there. The speciapist did an evaluation cycle with us which included the procedure where they insert dye and take an X-ray to see the shape of your uterus, bloodwork, ultrasounds, saliva testing of both of us, and sperm tests. Eventually I would have the surgery to remove the septum from my uterus and we went on to have 2 healthy children.

I am not sure how it works when you are all ready pregnant, I am assuming a saliva test?

bhjones1980 · June 2014

wintersong139 said:

Rant retracted.
Now I feel sheepish....
I would blame is on hormones, but that is another of my pet peeves. ;-)

No worries....

would it make you feel better to know I was considering posting a SEX not GENDER comment when I first read that post?

But I too am a little over the debate...

Irishcurls · June 2014

Mommy2CB said:

Our first pregnancy ended in loss and was confirmed at a hospital via ultrasound. They saw I had an issue with my uterus (septate) at the time so they sent us to a fertilty specialist to be confirmed and to basically go on from there. The speciapist did an evaluation cycle with us which included the procedure where they insert dye and take an X-ray to see the shape of your uterus, bloodwork, ultrasounds, saliva testing of both of us, and sperm tests. Eventually I would have the surgery to remove the septum from my uterus and we went on to have 2 healthy children. I am not sure how it works when you are all ready pregnant, I am assuming a saliva test?

You're describing an HSG, typically done as part of a normal infertility workup. It cannot be done while pregnant. Genetic testing involves blood or amniotic fluid/cells to check the baby's chromosomes directly.

OmSweetOm · June 2014

holachicaaa said:
The 1 in 100 risk or 1 in 200 risk (which my SIL said her OB had told her) that is often stated with amnio or CVS comes from old studies done in the 1970s and 1980s. Recently that risk is more correctly estimated to be between 1 in 600 and 1 and 800. So yea, there is an increased risk from the procedure being done, but it's super scary to keep perpetuating numbers that are antiquated.

The information I received from my doctor when I received my CVS was 1:350.

triplej9 · June 2014

crcostelWed158933 said:

Last I looked the list price of the Harmony was only $800, but they may have hiked it up since everyone else is over $1500

@crcostelWed158933My doctor quoted me at $800 for the Harmony as well - I was surprised that it is upwards of $1500 for some!

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