NIPT Tests/Discussion/Questions/Results

EmilyLove25

Hey, Ladies: I thought it would be useful to start a thread re: NIPT tests since a lot of us will probably start having them soon! Put your thoughts, questions, timeline, and anxieties here! 

EmilyLove25

I had my blood draw at 8 AM this morning, at 10 weeks exactly. I'm NOT a patient person. I did the Informaseq mostly because I did it last time and my OB office endorses it. I'm very, very anxious given my age (36). I had them done with DS, and I remember EVERYTHING about where I was when they called to tell me all was "healthy" and he was a boy. That was the moment I really embraced my pregnancy and started thinking about names etc. I'm not finding out the sex this time (though the results will show it), but if I get reassuring news, I'll be very relieved. 

stassischroeder

@EmilyLove25 I'll be 9+6 at my appt tomorrow, so I'm hoping they'll be willing to the blood draw. We did the Prequel test from Counsyl last time, but who knows if they'll be using that same test this time. I, too, remember where I was and how I felt when they called to tell me the baby was, according to the NIPT, healthy It was a great moment! 
Re: team green - I'm not sure how Informaseq works, but with Counsyl you set up an online account where they gave you notifications/information regarding your NIPT. Once the doc reviewed and released the info I could log in to see all the results. We had told them that we didn't want the sex info (we had a nurse give it to my sister so we could do a mini reveal), but low and behold the online results didn't hide the sex info. Luckily I didn't look until after our reveal, but I would've been disappointed to be inadvertently surprised by it! So, LSS, be careful looking at your online results if you don't want to know the sex!

mrsvp614

Good thread! I had my blood draw yesterday, and my new office uses Progenity. Now I'm impatiently waiting. My aunt has Turner's syndrome, and my brother also has a genetic disorder, so I'm on high alert. That being said... *TW in spoiler 

A mom in my previous BMB had all the NIPT screening come back negative, and her sweet baby only lived 43 days, due to two extremely rare genetic conditions. Not to make anyone more anxious, but in my head, a negative test does not mean "everything will be great."

Last time, we used Counsyl and did not find out the sex.... So basically it was in my in box from 11-12 weeks and I never peeked!  Sounds like my Progenity results will come in the form of a phone call from my office. We can choose how to find out the sex, whether over the phone, or come pick up an envelope, etc. 

stassischroeder

@MrsVP614 that's a great point about the limitations of NIPT. It's one of the many reasons I'll also be insisting on the NT scan. 

Malidocious

Awesome thread!  My OB's office said that my window for NT testing is August 29 - September 5... so I scheduled an appointment on August 29, of course.  I'll be 11w+6d on that day.  I do have an appointment on August 21st just to actually finally meet *my* OB (she has been out of the office for a few weeks due to a family emergency) so I've been seeing a different OB entirely so far.  I wonder if I should ask her if we can do the blood draw that day, since I'll be 10w+5d... thoughts??

Unfortunately my OB doesn't usually do the NIPT for people under age 35 because insurance won't cover it unless something abnormal comes up on the NT scan.  So I'm not sure I'll be able to afford to get that done (if there is nothing abnormal on the NT scan, that is) because it's $3,700.  Are there any places that offer cheaper alternatives to the Harmony genetic testing (my office's NIPT)?

Is it normal to wait until almost the 12th week to do the NT blood draw?  

Sorry for all my questions... I feel so clueless.  FTM and PGAL over here... eek!

EmilyLove25

@Malidocious I have heard a few people calling and negotiating with the companies that offer NIPT to get a reduced rate. I think someone in this group mentioned it? That said, when I had DD I was 32, so not AMA. I did the NT scan and that bloodwork and NOT the NIPT scan. I was blissfully unaware of NIPTs, and honestly, the NT scan and bloodwork was SO reassuring in of itself. I am thankful I did not do NIPT at that point. Basically, it will flag you if they think more testing is needed/measurements + bloodwork indicate a possible issue, and then I would think insurance WOULD cover the NIPT or whatever additional testing is needed. 

treetop19

@malidocious.. wish I could answer your questions on coverage, but I'm not  100% sure.. I think if you talk to a Harmony representative, they offer reduced pricing if your insurance doesn't cover it.  

@emilylove25, thanks for starting this thread!  very timely and much needed.

@MrsVP614, @stassischroeder, I agree, the NIPT does have its limitations.. even if you get a positive for the genetic conditions they test for, it's still not 100% a positive guarantee (told to me by my genetic counselor.)  the only 100% positive is an amnio test.

All that said.. I'm taking the Harmony test again this year. As you probably know, ******TW... last year this didn't turn out so well for me, and I still have anxiety and flashbacks from when I got the call.  Midwife said, it looks like your baby has T21, or down syndrome.  I actually told him, no, this baby is fine and healthy.  (denial went into affect immediately.)  I wasn't even told the gender at that time, just 'your baby has down syndrome'.. I hung up I was so distraught.  I went through a rollercoaster ride of emotions.. and had an amnio scheduled to confirm the results.  At that point, I was 'finally' told by the genetic counselor that the baby was a boy, and that the Harmony positive result didn't necessarily mean they were 100% sure he had down syndrome.  on the day of the amnio, they couldn't find a heartbeat.      

I had my blood draw on Monday (at 9 weeks 6 days... they were going to make me wait a little longer, but the midwife said it should be ok), so waiting on pins and needles now for the results.  Oh I hope it turns out differently this year!  To say I'm freaking out a little is an understatement. 

Question on gender.. I don't want to be just 'told' the gender right away over the phone.. how did you guys communicate this?  ( I want them to tell my husband, and he wants to do a gender reveal surprise for me. )  I forgot to mention it at my last appointment. Hoping they don't just blurt it out right away.


 

Malidocious

@EmilyLove25 Yes, my doctor said that insurance will cover the NIPT test for me if my NT results come back abnormal or high risk, so that's good.  I am 33, so I guess I'm FX that I won't technically have to do the NIPT testing, but there's a prickly sensation on the back of my neck that's making me really, really want to do all the tests.  I'm likely being paranoid.  I'll take it one step at a time.    

stassischroeder

@treetop19 girl, big hugs


I'd message or call your doc's office and let them know you don't want to be told the sex, and what you'd rather do. And, I'd also remind them when they call with the results that you don't want to know. They SHOULD ask, but just in case. I had my sister call my nurse after they'd spoken with me so that they could give the sex info to her. 

stassischroeder

@Malidocious There are ABSOLUTELY ways to get a reduced rate on NIPT if your insurance doesn't cover it. Counsyl offers a rate of $250-350 (can't remember which, and it might have changed in the last two years) if you don't or can't submit it to insurance. AND they offer payment plans. I'd be willing to bet that Harmony offers a similar non-insurance rate. Call them and ask! I was 33 during my last pregnancy, so insurance wouldn't cover. 

Also, there are a few different trains of thought on when you can get blood drawn for NIPT. I've heard that 10 weeks is the earliest, and 13ish is the latest. It may also depend on the company who is running the test. 

ETA I'm always so ragey about the fact that OB offices don't educate women on this! They're cheating families out of valuable information and testing. My OB tried to glaze over testing options like "most people wouldn't do anything about the results anyway, so most forgo it".... um F*CK YOU AND YOUR CONSERVATIVE AGENDA. 

aprileia

Went in for my blood draw yesterday.. now just trying not to think too much about it for the next 8-10 business days when the office will call me with the results and gender. I'm not too anxious about the results, but want to know 100% everything that's going on and what I need to be prepared for. Then I'll feel like I can really start getting ready and prepared for the new arrival! 

emmasemm

@emilylove25 thanks for starting this very important thread! Education for all pregnant women on the options and the differences is so woefully lacking all around the world!

@stassischroeder  love your passion for this!

AFM we draw for harmony and first tri screening bloods on Monday at 10+2. We have our NT and detailed 12 week scan at 13+4. But we have an appointment in just under two weeks to go and hear our blood test results. I opted for an appointment not a phone call so DH could be there too, also in case of difficult news i don’t want to be at work when I hear it. I am over 40, it’s an IVF pregnancy and we do have family members who had pregnancies with genetic issues, plus one of my cousins has one too. Just based on my age the first tri results will never come back with 1 in 10,000 risk or something like that as their algorithm has a heavy weight on age. 

Some of this info might be a repeat of part of what I posted in the AMA thread so apologies if you already wrote that bit. I’m going to put it in a spoiler only as it is LONG!!! 

cfDNA testing describes the method used for NIPT screening - there are now quite a lot licensed screens available, some more mature and more reliable than others. Make sure you know which ones are on offer and which one you decide on. Some require your OB practice to have signed up with them - so it might be why not all are offered by your own OB. But shop around especially if you have to pay yourself or if the ones your OB offers doesn’t give you what you want. 
Another important point is that some of them only test for the three most common trisomies, whereas others you can optionally add on to screen for sex chromosome linked conditions eg XXY or some common microdeletions.

Most well known name brand is Harmony who for T21 does have a greater than 99% detection rate for T21 (but much lower for T13 and T18 - but the other screens have the same lower rates for these too - and sometimes much lower!) and an only 1 in 1600 false positive rate. The difference in the error and detection rates do differ a lot between the screens! 

Also SUPER IMPORTANT is to note that none of these only screen are perfect and they don’t test for everything, plus very critically they are not diagnostic tests - very important OBs etc don’t lead anyone to think these are diagnostic tests as they are not - CVS and Amniocentesis are the only common in utero diagnostic tests (and come with their own risks as they are invasive).

The NT scan combined with the blood test for PAPP-A and free b-HCG is normally known as “first trimester screening”. This is based on measurements and where the three all fall in the database they have - thick NT, high free b-HCG and low PAPP-A indicates a higher risk. But the ranges and interactions are quite complex so don’t try to calculate anything yourself (I’m a mathematician and I might half want to try but I won’t...). If someone uses the term NIPT it doesn’t officially include this first trimester screening.

Many OBs will offer and compare the results from both NIPT and first trimester screening to have a fuller picture if you’re in a risk group.
Or some will do NIPT and just the NT measurement as a sanity check.

Most of the NIPT Tests need you to be over 10 weeks for the blood draw as that’s when the plugs no longer stop the babies blood mixing with the mothers - of course it can be a few days earlier but on average 10 weeks means everyone should get a result. Earlier you might risk a report of not enough fetal material.

Whether you do NIPT, first trimester screening or both or none - the 12ish week scan where they should do a “mini anatomy scan” and check there are not already any anomalies showing is very important for either confirming the results from the screening or maybe spotting signs which could mean something less common is going on which the screening doesn’t test for. Or it can give reassurance everything looks ok so far!

At 16 weeks you can also opt for the less popular “quad screen” which is like an extended version of the first trimester screening. It’s a blood test of four things - and particular also includes AFP which is the only screen (other than US - yes officially US is also a screening tool...) where potential signs of neural tube defects can be picked up so early. Only other ways are again with amino at that stage - which is invasive but definitive. It’s less popular as it’s so much later - before NIPT it was much more popular as it’s more accurate than first tri screening - in that it had less false negatives and false positives.

You can also do the AFP blood draw on its own then together with an US - especially if all your NIPT or first tri screening showed very low risk. So no need to the full quad screen if you just want to add the check on the neural tube stuff.

Once again, the only real issue to keep in mind is that the only trisomy that all the screenings have great accuracy on is T21. The others are still pretty accurate in some cases, but I was recommended to always compare the risk outcome with what is seen on ultrasound. And it’s such a small number of conditions they do screen for. Not wanting to scare anyone as the less common ones are just that - less common.

If you get a high risk, then my heart is with you. Deciding whether to do an amino or not, or what action to take is heartbreaking whatever happens. I also think this a very personal choice and everyone should do what is right for them and their family. 
But i do also think knowledge is power in that you can prepare for whatever is coming.
 

I hope all March2020 has great clear screening results - no matter which option you decide is right for you.

emmasemm

Oh and nobody should pay $3500 for one of these tests - that is daylight robbery! That some are self pay well under the $500 Mark should be common knowledge for all OBs and they should be getting themselves registered with several to be able to offer options to their patients at reasonable cost!

dunder_mifflin

This thread is so timely, we are debating having one though strongly leaning toward “yes.” I’m in Canada and the Harmony test is $500 for the T21, T18, T13. Full test is about $700. We have the eFTS regardless and if anything come back positive then the NIPT is covered but I don’t think I want to wait. I know it sounds silly. 
Anyone else in this predicament 

EmilyLove25

@dunder_mifflin I'm not in that predicament because I am AMA, BUT I totally understand your mindset. I would feel the same and want it done ASAP. For some reason, it gives me a sense of control. 

I paid $106 for ALL of my bloodwork today ($89 was what I owed for the NIPT Informaseq). I guess for once I like insurance haha. But if I have to get tested for syphilis one more time... GUYS, it's GOING TO BE NEGATIVE hahahaha. It's like they think women are 18th century English prostitutes. (I mean I get WHY the state requires it but still).

dunder_mifflin

@EmilyLove25 hahaha! Yes I have to get those tests done too!

I should clarify in Ontario it’s covered by Medicare if you’re AMA or get a positive in the eFTS screen. EFTS aid standard and covered by Medicare. Otherwise it’s out of pocket and I am 30 y/o so the government isn’t covering for me, which is fair enough, lol. But I still want it done as 1) it’s much more accurate and 2) it can be done earlier. DH and I talked about it and we are going for it now I have to wait two weeks since I’m 8 weeks and another 2 for the results. I’m sure it will fly by!

Malidocious

@dunder_mifflin I'm in the same predicament.  My insurance covers the NT scan, which will show certain genetic issues such as the ones you listed.  My insurance will not cover the NIPT scan UNLESS the NT results come back abnormal.  I can opt to have the NIPT anyway, but I'll have to look into a reduced rate.  I'm torn about what to do.

@stassischroeder THANK YOU!  I asked my doctor twice about what my options were and she just brushed my questions under the rug for the most part.  I even asked her nurse later, who was a little more helpful but still didn't tell me about other places that might offer discounted prices (or calling and speaking with a Harmony rep directly for a reduced rate).  I'd be willing to go somewhere that offers Counsyl if it's available somewhere close by, too!  I just did not get any sort of helpful information from my OB office about the test aside from "well you're not AMA so it shouldn't matter," and I don't think that's a very helpful or educational way of looking at it.

@emmasemm It IS robbery to charge that much for genetic testing!

As for my blood draw for the NT, I'm going to ask my OB at my appointment on the 21st why I can't just go ahead and get it drawn that day rather than waiting until the 29th.  I'm curious to see what she says!

dunder_mifflin

@Malidocious I’m with you!! We’re going for it anyway, no new maternity clothes for me for a while 😂

miss.sally

@Malidocious. You should call your insurance. I called mine with the codes that my OB office usually uses and he gave me alternatives to have it covered. He found one that was for previous losses. So if you’re also PGAL I’m sure your insurance has something similar. You just have to ask for the exact codes to use and then give them to your OB and make sure they use them! 

stacey6689

Hey ladies! So happy this thread went up today. I just got back from my appointment and although my insurance company doesn't cover nipt I opted for all the tests. My OB's office works with this Patient Engagement program to help with costs. It's part of the Moms helping Moms of tomorrow initiative. I only have to pay $299 for all my testing. @Malidocious I would definitely contact your insurance company and see if they know of any programs or more affordable options. 

jpalacios892

I have my appointment on 9/3 and I think we'll be doing both the NT screen and the NIPT on that day. I'll be 11w6d then. My insurance should cover it but we need to hit our deductible first. My husband is on very pricey medication which should hit our deductible if he fills it one more time, which should be before my appointment. 

For second time moms, how long before you got the results back? There seems to be a huge variation among my friends. 

jenEP

@jpalacios892 my counsyl results took about 10 days last time. 

My NT and NIPT are on 8/27. Last time I paid out of pocket (I think $600) for counsyl. I am 34, but I’ll be 35 the day after my blood draw. This shouldn’t effect my AMA status, right? Hoping insurance will cover it this time around. 

mrsvp614

I didn't check with my insurance this time around. I should have, but I'd want it regardless. 
Last time, I expected to pay $349 for Counsyl, but someone I didn't end up owing anything.
Now I have different insurance and a different OB office, and I did Progenity, which says 9/10 owe nothing and the most I'd owe is $199, so hopefully that's the case. 

stassischroeder

@Malidocious ugh, it's so frustrating how uneducated a lot of OBs are about NIPT. Also, there's no magic switch that flips once you hit 35 that makes you "high risk", its just the age that some insurance companies set at their limit. In reality your risk at 32 is very similar to when you're 35. In short, it really annoys me that your OB said to not worry because you're not AMA. 

@stacey6689 Do you mind if I ask which state you're in? I LOVE LOVE LOVE the sound of the Patient Engagement program & the Moms helping Moms of tomorrow initiative that you talked about!

@jpalacios892 last time the results took about 10 days. 

lemonlove86

Thank you all so so much for starting and posting on this thread. I felt completely lost on all things NIPT until reading this!!

EmilyLove25

@jenEP When I had my son, I was 34 at NIPT testing and 35 when he was due. I was going to do it regardless of insurance, but they DID end up covering 90% of it (the same as this time when I'm AMA both before and after the NIPT testing).

@jpalacios892 Because I am an insane person and will be counting down the hours until I get my results, I went back to check on mine with DS. I had the blood draw on 6/14 and the results were sent to my doctor on 6/20. 6/14 was a Wednesday though, so it was 5 business days but 7 days total... This was for the Informaseq with Labcorp... if that matters? 

Malidocious

@miss.sally @stassischroeder @EmilyLove25 I'm definitely going to call my insurance and talk to them directly, see what they say or suggest.  It's disappointing/disheartening that OB clinics don't educate families more about these tests.  
 
@stacey6689 That Patient Engagement program sounds really neat!

stacey6689

@stassischroeder I live in NJ. I had never heard of the program before. The nurse at my OB that did my bloodwork said they offer it to all their patients so that no one feels overwhelmed with the costs of all the tests. 

Madamemerle

jenEP said:

@jpalacios892 my counsyl results took about 10 days last time. 

My NT and NIPT are on 8/27. Last time I paid out of pocket (I think $600) for counsyl. I am 34, but I’ll be 35 the day after my blood draw. This shouldn’t effect my AMA status, right? Hoping insurance will cover it this time around. 

With my son, I was 34 at time of NIPT but 35 when he was born - and my doctor said they should cover in these cases, and submitted it to insurance - they covered it 100%. 

stassischroeder

Had my first OB appt on Friday. Everything went well, but now they have you meet with a genetic counselor prior to ordering the NIPT. Apparently this is to ensure that insurance will cover the tests or something? Sooooo MFM is supposed to call me to set up the appt with the genetic counselor, and then they'll do the blood draw for NIPT and schedule the NT scan. *update* MFM called and my appt with the genetic counselor, NIPT blood draw, and NT scan is September 4th 

miss.sally

@stassischroeder my OB gave me the option of meeting with a genetic counselor. I said no. Hope they get you in quick! 

EmilyLove25

@stassischroeder That seems SO unnecessary lol. 

stassischroeder

@miss.sally @EmilyLove25 yeah it seems dumb since I know more about the test than my OB  Buuuuuut if that's what it takes to ensure that insurance covers it, then whatevs. Just sucks because my OB/MFM office is 70 miles away, so having yet another appointment for the genetic counselor is inconvenient. 

ETA seeing the genetic counselor might end up being advantageous, though, because I'm guessing she'll be able to add screenings for the genetic conditions that I'm a positive or a carrier for (BRCA1 and familial dysautonomia), whereas otherwise I'm sure it'd just be the general major trisomy stuff. 

emmasemm

@stassischroeder everyone who does nipt has to meet with a genetic counselor before the test - but it can be like 15 minutes before! It’s so you understand what it might tell you, but also makes sure you’re aware of the limitations.

I’m not aware of an NIPT so far which can reliably test for those small genetic mutations - they can look for a very small number of microdeletions, but very small - and not all brands can test the same, nor equally well. So I’m interested to hear which one you do and what they are able to add on! You should be able to add on sex chromosome linked syndromes as that assess whole chromosomes.

lm45678

@stacey6689 I’m gonna have to ask my OB about that program! I’m also in NJ so it’s worth a shot! Thanks for the info

I have my NT scab scheduled for next Thursday and just sent in a finger prick blood sample 10 days prior. Did anyone else do this? I def don’t remember this with my first pregnancy.

stassischroeder

@emmasemm I think you're right, but they didn't make me meet with a genetic counselor for the NIPT during my first pregnancy. I just told them that I wanted the NIPT, and sent me down to the lab to have my blood drawn. 

Also, I think they'll be using Invitae. From reading on their website I think the most accurate (and possibly only) way to get the statistical risk of BRCA1 or familial dysautonomia is to do carrier screening on both DH and I. I've had mine done, but would have to have DH do his. 

emmasemm

@stassischroeder I meant to write everyone here in Germany you have to have the counseling session first... I’m pretty sure in other countries is often not required!

silverhope

@laurenm2123 yes, I did the finger prick with NT scan last pregnancy. (I’m in NJ too ) I pricked in the wrong spot and got blood all over my hand instead of on the paper  You get three circles that you are spsd to fill like 75% or something but can only use one drop of blood. I think I filled 25% of one circle and like 40% of the other two. They could still read my results. I felt like it was better to only do one drop of blood per circle like they asked instead of fill the circle, but who knows. Try to prick the very top of ur finger. I did the side too much and it all dribbled down my finger and was a mess. 

miss.sally

Just got my blood drawn for the NIPT! They took SEVEN vials! 😳 Now the anxiety is setting in. I’m going to be a mess until I get the results. 

stassischroeder

@miss.sally the waiting is the worst! I'm grateful they scheduled my NT scan the same day as the labs for the NIPT, so at least I can get ONE result quickly. FX you get your results super fast!