All Things Genetic Testing - Single Thread - Place All Questions/Comments/Experiences Here

skruhmin · September 2015

Since so many of us are getting genetic testing done and it's very easy for topics to get lost in the shuffle of this board, please post any genetic testing related questions/comments/experiences/anything here. NT Scans, Harmony, NIPT, CVS, all other tests...

flowerpower5838 · September 2015

Previous posts for reference:

https://forums.thebump.com/discussion/12620783/harmony-at-12-weeks

https://forums.thebump.com/discussion/12620788/genetic-testing

https://forums.thebump.com/discussion/12619576/nt-testing

https://forums.thebump.com/discussion/12620248/nipt-test-results-99-accurate

https://forums.thebump.com/discussion/12618872/panorama-test-questions

vicsim1220 · September 2015

Here is my previous post regarding difference between NIPT and NT.

I had the same question and did research to fully understand the difference between the NT ultrasound and blood test vs. NIPT (non-invasive prenatal test) First, both are considered screening and only a CV or amnio is considered diagnostic. So, if you have a high risk or positive NT or NIPT the likely recommendation would be to have a CV or amnio for a confirmatory diagnosis.

I am having both the NT ultrasound with blood work and the NIPT. Even though they are both considered screenings, the NIPT is much more accurate than the bloodwork done with the NT scan. (>99% for Down syndrome)

I am also over 35 so my insurance will cover the NIPT. Many insurance companies will only cover for certain high risk factors. With the NIPT test you can request (usually out of pocket expense) to check the baby's gender so many women who have this done find out early in the pregnancy if they are having a boy or girl as you can get a NIPT as as early as 10 weeks pregnant. There are 4 companies that offer this test and they are all called different names but the test is the same. There are some differences in their detection rates, cost and how they report the results. For more information regarding this and your genetic testing options the link below was really helpful in my research.

https://geneticcounseling.info/

NT ultrasound and blood work:

The first part of the test involves an ultrasound that will measure the nuchal translucency (NT). The NT is an accumulation of fluid at the base of the baby’s neck that is expected to be seen in all pregnancies. A measurement above 3.0-3.5mm is considered to be “abnormal.” An increased NT is associated with a higher risk for chromosome abnormality or structural defect (like a heart defect).

The second part of the 1st trimester screen involves a blood draw from the mother that will measure two proteins that are made by the pregnancy (PAPP-A and hCG).

A risk assessment for the pregnancy will be calculated based on the NT measurement, protein levels from the blood draw, and numerous other factors (maternal age, ethinicity, diabetics, ect.). The detection rate for Down syndrome is 83% with a false positive rate of 5%. The detection rate for trisomy 18 is approximately 80% with a false positive rate of <1%.

NIPT test

Noninvasive prenatal testing (NIPT) is a new technology that is able to isolate fragments of the baby’s DNA from a sample of the mothers blood (using cell-free fetal DNA technology). The test is able to screen for Down syndrome, trisomy 18, trisomy 13, and sex chromosome abnormalities with a high detection rate. There are no risks to the mother or the baby because it just involves a blood draw from the mother. The testing can be done as early as week 10 in a pregnancy and results are typically reported within 1-2 weeks.

flowerpower5838 · September 2015

When I was doing my research, someone directed me to a thread on the Feb 16 board and I found this link. It explains that becuase the NIPT (Panorama, Harmony, MaterniT21, etc) tests are just SCREENINGS and not actually diagnostic, that they are MUCH less regulated than one would assume. And the 99.9% accuracy that they boast is likely largely off the mark.

I'm not trying to sway anyone from getting these tests done and am still trying to make that decision for myself, but I think it's important to be informed!

https://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html

skruhmin · September 2015

bump

vicsim1220 · September 2015

What NIPT (harmony, materni21 etc) provide is another non-invasive screening. Before NIPT, we only had ultrasound and the serum blood test.

This article suggests women are making a decision to terminate their pregnancy based on the results of this screening. Physicians and patients need to be better informed about how to interpret the results of a NIPT and a diagnostic test (amino or CV) should always be recommended to diagnostically rule out Down syndrome.

flowerpower5838 · September 2015

The article is also suggesting that the test is nowhere near 99.9% accurate and that is primarily my main concern.

Torpedogirl · September 2015

Anyone that has had their results given already? How long did it take for them to call you? I had mine done last Tuesday and I am anxiously awaiting.

katelin318 · September 2015

@Torpedogirl mine took 8 business days from when I had the blood drawn to when my doctor called me with the results. They told me to expect 7-10 days.

Starbuck77 · September 2015

Torpedogirl said:
Anyone that has had their results given already? How long did it take for them to call you? I had mine done last Tuesday and I am anxiously awaiting.

I called my dr yesterday after a week. My results were in but they told me it could be up to 2 weeks when I did the testing

mrsloriw · September 2015

My came in 1 day short of 2 weeks. Such agony waiting!

Torpedogirl · September 2015

Thank you ladies. I am just so nervous. Do they just say low or high risk and boy or girl? Sorry for all the questions. This is my first time with a test like this.

SarahJean1014 · September 2015

I did the panorama test last Thursday and I just got the call that the verify portion of the test came and the babies look healthy. Since I'm having twins the gender portion isn't able to tell me the sex of both babies. All I know is there is at least one boy.

I'm still waiting for waiting for the global panel results which take about 2 weeks to come in. Once those results come in we will know if my husband has to be tested since its a carrier screening.

jess9802 · September 2015

I had the Verifi test done on 8/13, and got the results 10 days later on 8/23. No abnormalities on chromosomes 13, 18, or 21, and it's a boy.

My insurance is processing the claim - the total charge was $4,750. After the provider write-off my obligation would be $1,801.60. I am trusting that the Peace of Mind program with a max out of pocket cost of $99 will be available to me as I was told it would be before I had the test.

mrsloriw · September 2015

I had the panorama test and she said my blood test was "normal" and I'm low risk for everything, and that I'm having a girl. That was it.

lightrox · September 2015

Torpedogirl said:
Anyone that has had their results given already? How long did it take for them to call you? I had mine done last Tuesday and I am anxiously awaiting.

I'm still waiting too and I had mine on Tuesday I might call tomorrow and see if they came in.

Edited since writing is hard

mshukh · September 2015

I had a regular NT scan and blood test. Was told to wait 7-10 days. It took about 7 days to get the letter with results with DS, so I'm expecting at least that long again.

Thanks to whomever shared that article. I am now much more knowledgeable on NIPT vs. regular NT test as well as the risks, cost, and potential lack of accuracy with NIPT. Very eye opening.

J234 · September 2015

I had the MaterniT21 the same day as the NT scan and it took 8 days. Low risk and a boy. Such a relief! The NT scan was also good. No word on insurance yet...

Torpedogirl · September 2015

lightrox said:

Torpedogirl said:
Anyone that has had their results given already? How long did it take for them to call you? I had mine done last Tuesday and I am anxiously awaiting.
I'm still waiting too and I had mine on Tuesday I might call tomorrow and see if they came in.

Edited since writing is hard

I called today b/c I am impatient. She said no results yet. Give it until Tuesday if nothing then call back. I am off until Wednesday so it's going to be a long 4 days if I don't get a call tomorrow!

Checca23 · September 2015

It took 10 days for my results. I was told low risk for abnormalities and I am having a girl.

Torpedogirl · September 2015

Checca23 said:
It took 10 days for my results. I was told low risk for abnormalities and I am having a girl.

Congratulations! That's the exact news I am hoping for lol

Parker16772 · September 2015

Just wondering if most people's insurance covered the test and why? I haven't checked on mine but I have heard usually you have to pay our of pocket unless you are high risk or advanced maternal age.

lightrox · September 2015

I got my results just five minutes ago I am low risk on everything which is the most important thing to me and I'm having a little girl. I would have been happy with either but I have two boys and didn't think a little girl was in my future but I'm really excited. I haven't told anyone but my husband yet. I'm baking cupcakes for my kids to have tomorrow while we Skype with my parents and in laws so you all are the second to know because I'm dying to tell people but can't until tomorrow.

ACleanLife24 · September 2015

Bumping this as the BSC one got closed... and keeping shit organised is good

mgm84 · September 2015

I got so excited when I heard about these tests, since they were just coming out when I was pregnant with my daughter. Alas, I was so disappointed when I found out they're just screeners.

I had my CVS test yesterday, and will now be holding my breath until I get the results.

By the way, a brand new one came out Monday by MaterniT (Genome I think it's called) that's even better than the others!

ACleanLife24 · September 2015

These are not offered in the UK... DH and I are from completely different Caucasian backgrounds but I have no family history as I was adopted

Out of morbid curiosity I wish we could have these.types of tests done but I fear it would also only fuel my crazy

adotgorman · September 2015

Also curious about insurance coverage. I'm not considered high risk and not over 35. Is there a chance this will be covered? I called my insurance company but they need a procedure code from the doctor to check it. Just curious about others experiences with insurance coverage and this test while waiting to hear back from my doctor with the code.

pumpkinhead4 · September 2015

Just my 2 cents. I skipped my insurance to do the Harmony test. It cost me more to go through my insurance. The Harmony test company charges $130 if you don't submit it to insurance and will drop it to $117 if you pay within 30 days of billing. The issue might come up with your doctor seeing a need for the test if it's not warranted. But might be worth asking.

flowerpower5838 · September 2015

I have the same advice about bypassing insurance if possible. If I decide to get the test done (my doctor is the one that offered it, though) it would be paid for directly from me to whichever lab it is sent. For me, my doctor said it would be $100 if sent to lab A or $200 if sent to lab b. I guess lab b has better testing capabilities or something according to my doc.

adotgorman · September 2015

Thanks for that info ladies. I didn't know it was an option to go straight through the company. I will call around. Thanks again!

kynbar5 · September 2015

Bumping this off of the third page!

mb0112 · September 2015

This might be a dumb question but if you get a blood test done with your first baby and it says, for example, 1% chance of Down's syndrome... Does that mean it is the same odds for your second child assuming your age does not put you at higher risk? Are they testing what your blood is carrying as genes, or somehow seeing the risk for this particular pregnancy?

I know google could help me and I can ask at my next appt but just curious while I'm here on the topic...

ddjay315 · September 2015

My doctor explained that it is unique to each pregnancy, because it depends on how the chromosomes combine when the egg and sperm split their chromosomes and combine. The way my doctor explained it, since women are born with all of their eggs, the older the woman the older the eggs which increases the risk that the egg may not split and combine correctly (may bring the extra chromosome with it instead of splitting and only bringing one). This link explains the process under "what causes Down syndrome?" https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02356

For the blood test, I'm not sure if you mean cell free DNA or the fingerprick test as part of the combined first trimester screening - I know for the screening test, they look at levels of certain pregnancy-related substances (ie, different in each pregnancy) in the mother's blood, and combine the levels of those substances with the mother's age to give you the risk number (not sure about the specifics of how they determine the risk level). From the little I know about cfDNA it tests the baby's DNA (floating in the mother's blood) to determine if the baby has Down syndrome.

That's about as much as I know, if others have heard differently or know more please correct me, I'm curious about it too

cdb305 · September 2015

Man my doctor said its 250 and my insurance wouldn't cover it

mrsloriw · September 2015

My dr told me they test the baby's DNA floating around in my blood- which is why they can also tell the sex (if there are Y chromosomes or not). So I assume that means it's the chances of that particular baby, not all babies you might have.

MittenJennie · September 2015

My office only charges $25. They submit to insurance then if not covered by your deductible they send you a bill you call and they adjust to $25. Still seems sketchy but I'm advanced maternal age so we went ahead. It took 11 days to get my results - I think it was longer because of the holiday - which I didn't include in my count. Everything came back low risk and we are having a boy.

ljlockwood · September 2015

I had the Progenity test at 10 weeks. It took two weeks to get the results which indicated everything seemed fine (and we are having a boy). I then got an EOB from my insurer showing a claim of $9,800 of which insurance was only covering $230. Since I knew something did not seem right, I called Progenity's financial services and they assured me I would pay no more than $99. They negotiate with the insurance company to collect as much as possible and then they must just write-off the rest!

yodapup · September 2015

Who is getting the quad screen done? I haven't seen any comments on this topic but maybe that's because so many chose to do the 1st trimester screens. Just curious.

elle313 · September 2015

@yodapup I'm getting the quad screening done. I go in this week to get my blood drawn for it.

kynbar5 · September 2015

Just bumping off the 2nd page

elle313 · September 2015

Do any of you know how long the results from the quad screening usually take?

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