Genetic Screenings and Tests - Questions and Experiences

m6agua

@pirateduck For my office the standard is to just do the 20 week anatomy scan. You would only get an early scan if there is a reason (spotting/bleeding/irregular periods/loss history). So my first pregnancy was a MMC, because I started spotting at 10 weeks and finally got a scan to see what was going on. My second pregnancy I got an early scan because I was spotting and had a loss, then nothing until the anatomy. This time I got a scan at 9 weeks because of the first loss and no other official scans until the anatomy. I'm under 35, so I haven't done the NT scan at all. There is always the bedside ultrasound if they need, but those are not as good.

pirateduck

Thanks @m6agua ! 

brettanomyces

@pirateduck Yeah not unless there’s a really necessary reason. Standard obstetrics assume everything is fine if growth and heartbeat are normal. I even had spotting during my second trimester and ob had no concerns. It was weird for me coming from fertility treatments where we looked at my uterus every day 

soprano19

@pirateduck at Kaiser the standard is the NT scan at 12 weeks and the anatomy scan at 20 weeks, and then usually nothing after that. Like @brettanomyces said, it's assumed everything is fine at that point if the heartbeat and growth are fine.

catem07

@pirateduck No, in my experience they do not. Some people don't even get ultrasounds until the anatomy scan. You may only have one after that, too. 

pirateduck

@brettanomyces exactly, I went through a year of fertility treatment where they wanted to scan and look at my uterus and ovaries multiple times a cycle, then experienced a loss, so early in this pregnancy I had lots of scans to make sure everything is normal, and now I'm graduating to a normal pregnancy OB schedule, and it's so laid back and different from what I have grown used to!

pirateduck

So my NIPT blood was not drawn last week after all, but was drawn today and goes out, so another week of waiting.  I had my NT scan today and everything went really well and set my mind at ease.  I had my favorite ultrasound tech, which was a random stroke of luck because she is actually a sub from another clinic and she specializes in high risk and really knows her stuff.  She is the best tech at explaining everything really well and pointing out every little thing she is looking at.  My husband and I both got to ask lots of questions and get lots of answers.  Our NT measurements were good and there is a nasal bone present.  For those that don't know, a nasal bone present at this stage is a good sign that things are healthy and well and indicates a better probability that there are not genetic anomalies.  I feel much better because once you are over 35 they put the fear in you that you are higher risk for allllll the bad things, even though that risk is still very small.  I'm not even worried about my NIPT results now, though every appointment my husband asks when we can know the sex.  I will post a pic in the US thread later, it really looks like a baby now and not just a little peanut, arms, legs, and a facial profile!  So for ladies worried at all about your NT scan there is a silver lining that you finally get to see what looks like a real baby in there!

babyfoxden10

I had my NIPT bloodwork taken a week ago so I called to see if my results were in yet. I know they said 7-10 days, but they also said they do so many if your results are fine you might not hear. 

Anyway... I called and they said it could take 7-14 business days umm that’s much longer to wait not cool. Also this means my gender reveal (husband’s idea not mine) won’t be happening next weekend and everyone cleared their schedules already 😕 I know it’s not the end of the world, but it’s just frustrating it could take another whole week. 

ohlindalinda

@shamrocandroll @pirateduck @ruby696 @rachelg777 @kylelee23 @brettanomyces thank you for sharing! I’m also not a huge social media person (I haven’t been on my Facebook account in two years 😅) but I am looking forward to sharing the news. Like a lot of you, getting pregnant wasn’t easy for me and ultimately I conceived after two rounds of IVF. I know others have had a much longer and more difficult journey, but for me this feels like an accomplishment I can’t wait to celebrate! Also, I’m sure my boss is suspicious after all these “medical appointments” I’ve been taking 🙃

emlettuce

@pirateduck thanks for mentioning about the nasal bone, my Dr had said it looked good but I hadn't realized the significance

pirateduck

@emlettuce from what I understand no nasal bone at this age isn’t always bad but the presence of one is usually good!

i think it’s one of those things that combined with all the other stuff they look at points to either increased or decreased risk factor but isn’t hugely significant on its own

babyfoxden10

Everything came back low risk on my NIPT. Ready to go into the weekend feeling good ☺️ (Also not having to wait 14 business days is a relief)

ruby696

The nurse just called with NIPT results - both babies are low risk! I feel like a huge weight is off my shoulders. NIPT at 38 is way more stressful than it was at 34.

mamaclownface

@babyfoxden10 and @ruby696 so happy for y’all! 

lajoliedreamer

My NIPT came back Thursday and all is normal. That combined with a heartbeat on Wednesday is making me feel comfortable with this pregnancy in a way that I never felt with DD when my PGAL brain was so strong for that pregnancy. This is really happening!

m6agua

Yay @lajoliedreamer!

adventuresawait2

@lajoliedreamer great news - congrats!

queenklau

@lajoliedreamer congrats!

I just got the NIPT email (6AM) woke up DH and we got low risk!! So relieved. We also found out we are having another baby girl! Yay so excited sisters are the best 😍.

adventuresawait2

Getting so impatient...I had my NIPT the 25th and they said 7-10 days, so I guess sometime this week. Scan was good, but don’t really want to tell folks without this last piece of data. And with how blumpy I’m getting, I feel some people suspect something is up!

ruby696

Congrats on your little girl being low risk @queenklau!

m6agua

@queenklau Congrats on a healthy girl!

queenklau

adventuresawait2 said:

Getting so impatient...I had my NIPT the 25th and they said 7-10 days, so I guess sometime this week. Scan was good, but don’t really want to tell folks without this last piece of data. And with how blumpy I’m getting, I feel some people suspect something is up!

Did you get the email that they received the sample? It was about a week (including weekend) from them receiving the blood and me getting the results. It’s probably coming very soon!

catem07

Yay! I just found out that the cost for NIPT doesn't apply to my deductible on my Cigna plan and it goes straight to 80/20 coinsurance so I'll get the blood drawn for it tomorrow. 

adventuresawait2

@queenklau I did not! Hm. Congrats to you on your baby girl. 

brettanomyces

So I had my NT scan today. She didn’t tell me anything about the measurements so I’m now trying (failing) not to worry that that means something negative. She told me the heart rate which was good so since she didn’t tell me the measurement obviously that means something is wrong. I know most ultrasound clinics have a policy that they the technician isn’t supposed to give any information to the patient. But...she told me the heart rate   

For my first and second kids my NT scan was at my fertility clinic and I saw my Dr right after so I didn’t have this mindfuck waiting game. Midwife appointment next Wednesday so I’ll be trying not to go crazy until then. Wish I could drink wine   

pirateduck

@brettanomyces aaaaaahhhhh, I'm sorry you don't have immediate results!  My OB appointment immediately followed my US appointment so I knew the scan results same day (still waiting on blood work).  Any chance you can call to get results prior to your appointment?

brettanomyces

@pirateduck Maybe. It’s also possible they might call me. 

shamrocandroll

@brettanomyces Sorry you're anxious! The tech has never given me any specifics other than the fact there's a heartbeat. Usually no news is good news, but I hope you can get some peace of mind soon! 

lulam13

I posted this in the wrong discussion, so I’m posting again:

Good evening!

Has anyone had their NT US yet? I had my NIPT yesterday and I have NT in five days and I’m curious about a few things:
-Will I get results immediately?
-How long does it take?
-Can they determine gender at that time (I’ll be 12w 6d)? If not, are you finding out gender through the NIPT?

Thanks!

shamrocandroll

@lulam13 My OB only does NIPT OR NT, but not both. You should be able to get a summary of your NT scan results right after your from your OB. They usually schedule a visit with you right after the ultrasound appointment. NIPT results usually take a week or two to come back. You'll be able to get the sex from NIPT if you elected to do so, but 12w is too early to tell from ultrasound. Are you sure the bloodwork you had done is NIPT and not just 1st trimester screening? That's what's usually done in conjunction with an NT scan. 

adventuresawait2

@lulam13 I had both NIPT and NT scan with finger stick. Seemed like overkill to me, but I guess we long as insurance approves it... Results take 7-10 days since they have to ship it out and get the results back. If it’s the NIPT generally you can find out sex of baby, unless it’s some atypical situation where they aren’t allowed to do that per your insurer (genetic counselor mentioned there is some insurance like Anthem where this may be an issue.) I got my results today at 7 business days out (although I did message the counselor to inquire and then got a call...so possibly the results were sitting..)

lulam13

@shamrocandroll I honestly don’t know for sure now! I get blood drawn at a facility that isn’t my OB. I know I had two forms when I got blood drawn, one was for screening and the other was a slew of other tests. How do you tell the difference? I will have to double check with my OB when I go in on Friday!

shamrocandroll

@lulam13 For NIPT they will test for downs and the trisomies, and ask you if you'd like to elect to test for the sex of the baby and more minor chromosomal abnormalities.  NIPT is a blood DNA test.  1st trimester screening is a blood test done in conjunction with the NT scan where they measure the thickness of a potion of the baby's neck.  The blood test results together with that measurement generally give you a risk factor for downs or trisomy.  The NT scan will not give you the baby's sex because it's too early to determine from ultrasound.  I would definitely ask at your next appointment.

catem07

FWIW my US tech gave a guess at the sex for my first baby at my NT scan. She was right, but of course there was a 50% chance of that even if the guess wasn't informed. I have to assume she was pretty sure, though, otherwise I imagine she wouldn't have said anything. 

chewie5990

I think "technically" if baby is in a really good position it is possible for the tech to identify the sex - but it's not nearly as clear as at the anatomy scan around 20 weeks. I have a few friends who have had the tech say what they thought the gender was a 12w scan, but always sure to follow up with..but it's not 100% clear. 

TattoosandLace

I got the orders for my genetic screening and went to the lab. The lab was randomly closed with a sign on the door that said "sorry for any inconvenience". It's the only lab in 100 miles that does the blood draws for that test. So, since I'm not past the window of getting it done, I'm trying to put it out of my mind until the anatomy scan. I'm pretty upset with my doctor in general.

stephrossi

Just had my NT scan at 12 weeks today and everything looked good (NT 2 mm and tech could see nasal bone). 
However, I am still debating whether or not to do the NIPT: it's not covered by insurance but I'm 41 and of course it makes me worried, even though the US eased my mind.
Any advice? 

pirateduck

@stephrossi I'm 38 and will be 39 by the time baby is born.  My doctor pretty much insisted on both NT and NIPT and didn't really give me a choice.  He wasn't insistent because he was worried for a particular reason.  He just said that that is the "standard of care" for someone pregnant over 35.  It made me feel like I'd be selling myself short if I didn't do both.  As you can see from previous posts on this thread there is a lot of variation with the different insurance companies and test companies and how much you will actually have to pay in the end.  I'm not sure if money is a deciding factor in your mind at all, but I think that if NIPT will make you feel better and have less anxiety, well less anxiety is good for the health of the baby too.

spiderlover25

@stephrossi it’s really up to you. I didn’t have the option of the NT or NIPT for my first 2 DDs. My doctor ordered it this time as I’ll be 36 at delivery. I chose to self pay for $249 instead of going through insurance because the test is subject to deductible. I wasn’t close to my deductible yet this year so with insurance the test would’ve cost $759. 

catem07

I know there are a few references to SMA testing in here. I declined it yesterday purely because of cost but of course now I’m getting a little paranoid. The risks seem sooooo low though. 

Are most of you not doing SMA carrier testing?