Genetic Testing ... are you going to do it?

dpurejoy · June 2015

My nurse midwife offered for us to see a genetic counselor as I am 37 and of advanced maternal age. My wife would like to do it and I am leaning more towards a no. Our compromise is to go to the appointment and talk to them and hopefully after that I will feel better one way or the other.

The test in question is the NIPT (Noninvasive Prenatal Testing). NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.

BACKGROUND

DNA from the fetus circulates in maternal blood. Unlike intact fetal cells in maternal blood, which can persist for years after a pregnancy, circulating cell-free fetal DNA (ccffDNA) results from the breakdown of fetal cells (mostly placental) and clears from the maternal system within hours. Fetal DNA detected during a pregnancy, therefore, represents DNA from the current fetus. Although only about 10-15% of the cell-free DNA circulating in maternal blood is from the fetus, it can be detected and measured. Quantitative differences in chromosome fragments in maternal blood can be used to distinguish fetuses affected with trisomy 21, and a few other fetal aneuplodies, from those that are not affected.

Testing can be done any time after 10 weeks; typically it is done between 10-22 weeks. Results can take a week or more.

NIPT technologies have been validated in singleton pregnancies at high risk for trisomy 21 due to:

advanced maternal age
an abnormal serum screen
personal or family history of aneuploidy
abnormal ultrasound

At least one laboratory will accept samples that do not meet these high risk criteria. Additionally, at least one laboratory offers the test in twin pregnancies, and another for Turner syndrome (monosomy X) when the fetus presents with a cystic hygroma. Contact individual laboratories for additional information.

The testing is non-invasive, involving a maternal blood draw, so the pregnancy is not put at risk for miscarriage or other adverse outcomes associated with invasive testing procedures.

SummerOH · June 2015

I do all of the tests recommended. It wouldn't change the outcome as we probably wouldn't terminate, but I like to be as prepared as possible.

ChipMonster · June 2015

I would do it like @SummerOH said, I'd rather be prepared! If my screening comes back with a high percentage, then I will be doing this same blood work. I'd rather find out now than when the baby is born. At least I can have the time to prepare for anything for myself and the baby!

msgoldie80 · June 2015

I'm going to get my testing done this Wednesday.. Even though I will just be 35 in August my OB suggested I get it done bc I'm considered "advance age" as well. Form my understanding an u/s will be done to measure the baby's neck and then blood will be drawn. The results will be back in 5 days.. And they happen to inform you the sex of the baby if you interested..

Sovvy · June 2015

I'm doing any and all testing available to us due to our history of chromosomal defects.

dpurejoy · June 2015

Thanks for the input ladies ... I see the prepared stance and I think that is where I may land.

zg49 · June 2015

I had the test done with our DD and it was nice to be get the details on baby with only doing a quick blood draw. All turned out great and we found out at 13 weeks we were having a girl so that was an added bonus.

dpurejoy · June 2015

@zgurl49 ... I do think we will like the peace of mind knowing one way or the other. Thanks for your story. PS ... Love JF

Bisho · June 2015

Hey there

...we opted for the nipt as i'll be 36 when the baby is born, and I'm someone who likes to know as much as possible! However we've decided to not find out the gender. We got the test results today and all was low risk, so this is reassuring. It was weird knowing our Dr knew the gender and we didn't!

Nfleszar · June 2015

We talked about it and are doing them as well.

\ My husband and I talked about it quite a bit - and the only way we would consider not having the baby is if it had some genetic defect where it would live a horrible life in pain for a year or a few years and then have no chance of survival. Because we don't think that brining the baby into a terrible life of pain is necessarily the right thing to do either.

But something like downs or other defects where the child can live a fairly happy life, we would totally still have the baby.

thismplsgirl · June 2015

We got our cell free DNA test drawn last Tuesday (MaterniT21 but each doc has multiple choices in this cfDNA category to choose from based on lab). We had a loss of a chromosal defect baby so that made us eligible even though I'm only 32. Most insurance doesn't cover it unless you are over 35 or have had a child or loss with defect.

dpurejoy · June 2015

@bisho ... we invited my mom to TN to be a part of the 20 week, gender reveal ultrasound ... now, if we select this test, we could know before that reveal. Maybe they can test for that and know and just not tell us until the 20 week ultrasound to confirm what they show is on the ultrasound. That could be an option.

thismplsgirl I totally see wanting to do it again as you have had experience before with loss.

Our midwife said she has seen three schools of thought:

- know to find out something potentially bad so you can terminate

- know to know and be prepared

- don't do the testing and let what will be be

I see the "be prepared" as the place I fall but I go back to the what will be thought train a well.

Based on your responses I called and confirmed our appointment to at least meet with the counselor to weigh our options - which means we will probably move forward with it.

thismplsgirl · June 2015

@dpurejoy I'm in the category of "know to know and be prepared" and our midwives completely agree with us. I don't think that major issues would be best planned for during pregnancy rather than struggling through the early postpartum period when emotions and hormones are even more out of whack. It's definitely nice to have the chance to know as much as possible early, for us at least.

karenelizabeth102 · July 2015

Does anyone know the cost of the NIPT? Our insurance "covers" it, but we have a deductible that we have to reach before insurance kicks in. We are trying to decide whether or not to do the testing and this is a factor.

snelson4286 · July 2015

Ask your doctors billing dept for the procedure code and the price of the test and they can let you know that information. Also you can call your insurance company with that code to get the exact benefit for that service. Each doctors office has different prices. Also ask for any lab codes and prices associated with this test, you will be billed separately for labs associated with the test. I hope this helps.

karenelizabeth102 · July 2015

Yes! Thank you so much! That is so helpful!

Meg920 · July 2015

I called the doctor for the price and she actually directed me to the billing department of the test. I had the Harmony test on Friday and 65% is covered by insurance (I'm only 27). BUT... The testing company's advised that I would pay no more than $20 out of pocket. This test is more accurate and ended up being more cost effective!

emzie54 · July 2015

I did mine last week and heard from the genetic counselor that we were negative for everything they tested for and that we are having a baby girl. Our test was done by Progenity, was not covered by insurance, but will only cost us $99. You could actually opt out of sex being tested on the test order form, and our counselor made it clear that she would never just give us the sex without asking first if we wanted it. She ended up sending us an email that we opened together.

I 100% wanted to have the cell free DNA test done. I think arming yourself with information is crucial!

mcrane8 · July 2015

I won't fight anything the doctor recommends, but it won't change my mind about anything.

TurtleMeg · July 2015

I'm not doing it but I am also younger...I don't see a point because for me it would not make me feel more prepared and it wouldn't change the outcome. I will have the baby no matter what and I feel you can't really prepare for having a child with special needs. Once they get here, you will still go through the process of grieving and acceptance of the child. I am a special education teacher and I see this with parents at all the various stages of a child's life...nothing can "prepare " you...in my opinion.

lyannast · July 2015

I'm not going to do anything aside from the routine bloodwork. If I have a child with special needs, I'll know I'm one of the lucky parents

dpurejoy · July 2015

I am heading for the counseling tomorrow, the blood draw to start the test and the 13 week ultrasound - will keep everyone posted as to the outcome!

mavournine · July 2015

I'm 37 and will be seeing the geneticist on Monday. Definitely having the Maternal 21 blood work. It's just nice to know. My baby is my baby no matter what. Just good to be prepared.

danasphillips · July 2015

We did it today. I don't think I would terminate in most cases, but I wanted to know if there were any genetic abnormalities that would lead to the baby not surviving to term.

cawalp · July 2015

I did it just to find out the gender cause I'm impatient like that. I'm young and have absolutely nothing in either of our families so I knew our chances are low for problems but I just needed to know the gender as soon as possible.

kaybeeoh · July 2015

We just went last Monday for our appointment where we had to decide on whether to do the testing or not. We ultimately decided to not do it. I'm only 25, my husband is 27, and we have no history. I was still considering it because I'm such a planner and just like knowing. My doc assured me that if something was wrong it would be detected on an ultrasound. She said genetic disorders are very noticeable and they constantly screen for those irregularities, such as head size, rate of growth, curvature of spine, etc. That gave me the peace of mind I needed to not do the test.

Rakastajatar · July 2015

i did the generic screening prior to getting pregnant. I highly recommend women to do that who think they want to get pregnant of course that doesn't apply to any of you ladies! while you don't have the stress of already being pregnant.

dpurejoy · July 2015

Went today with a great deal of background prior to the appointment. After an hour discussing purpose, methodology, and potential outcomes, we went ahead with the NIPT and will learn the results in 2 weeks. I am glad we did it because I know I fall in the camp of "better to know" and be prepared than not to know; but truly to each her own.

Tamarash · July 2015

I dif this test the other day. Am waiting for the results. I should be getting them in a week or two, it also tells you the Sex if the baby

hannahduff3 · July 2015

I am doing it next week. I am only 19 but have Down Syndrome in the family. My question is, will we definitely be able to find out the gender during this test!? I'm very impatient lol.

dpurejoy · July 2015

With the NIPT test I did (there are many products out there, the one our genetic counselor recommended was Panorama by Natera) determining the gender was an option you had to select. We find out by next Tuesday!

CaraBoonie · July 2015

We did the testing too. Some of the things it tests for are fatal to baby and can result in miscarriage/stillborn/death soon after birth, it's not only for things like Downs, so "preparedness" isn't the only reason to be tested. Also, I'm super impatient and the idea of knowing the sex of the baby as early as possible was extremely exciting to me, on a lighter note, haha.

dpurejoy · July 2015

Just got back my NIPT screening results and it is all good news!! The screening results indicated low risks for all the conditions included in this screening test. This means that the expected amount of fetal chromosome 13,18, 21, and X material was found consistent with a baby that does NOT have trisomies 13,18, 21 (Down syndrome), sex chromosome differences, and triploidy.

There's a healthy baby growing in there!!!!!

jillcc · August 2015

We did the NIPTs test and like everyone else, were scared but expected everything to be fine. It came back that baby has Turners Syndrome. But instead of it preparing us, it has made our pregnancy so hard and stressful, mostly because nothing is positive anyways till baby is born and she is showing no signs at all on our ultra sounds. My point is, we've spent months stressing and worrying, which is horrible for me and baby, about something that can't even be proven. Really makes you wonder if we would have been better off not taking it in the first place.

dpurejoy · August 2015

jillcc Sorry to hear that your pregnancy has had this cloud of worry. The point you made of feeling helpless and still unsure is why I didn't want to do the test initially. Sometimes, knowing everything doesn't help you prepare, it can only add to your stress. I pray you find time and things to do to find peace and joy along the journey so you and your baby can find health and strength in this time

dc072175 · August 2015

I just turned 40 and I did it. As others have mentioned, it wouldn't change me having the baby, BUT this type A girl likes to be as prepared as possible and know what resources I need to help my baby and our family!

EDIT: I also added the gender to the list of tests, because why bother waiting when it's all the same blood draw!

Outcome equals a healthy baby boy!

Knottie15742183 · August 2015

Yes my husband and I are. Our doctor also didn't recommend it but rather just gave us the information and fyi we would not terminate if anything came up. Good luck !!

claireloSC · August 2015

I'm sorry to hear that @jillcc. I hope when your baby is born you find out it was all a false alarm. Try not to worry too much and enjoy your pregnancy if you can. Since you can't chance the outcome maybe you can at least enjoy this time before you meet your baby. My thoughts are with your family.

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Genetic Testing ... are you going to do it?

BACKGROUND

Testing can be done any time after 10 weeks; typically it is done between 10-22 weeks. Results can take a week or more.

NIPT technologies have been validated in singleton pregnancies at high risk for trisomy 21 due to:

The testing is non-invasive, involving a maternal blood draw, so the pregnancy is not put at risk for miscarriage or other adverse outcomes associated with invasive testing procedures.

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