Genetic Testing Results

wkuandrea

@green_olive they have a conference they attend with other parents and see a super awesome set of drs and the whole shebang! If on the extremely small chance your baby does wind up with galactosemia, I’m happy to put you in touch with them and they’ll get you in the network! Try not to worry in the meantime (I know). There are SO many things that could go wrong — but so many that could go right! 

hamburglarhicks

I had my NT scan 7/10, got results back 7/19, with higher than expected risk of 1 to 49 for Down syndrome. For the NT, the measurement was 1.0 mm. This is our first child and I’m 32. Seems high, but in perspective, there’s still a 98% chance baby is healthy. 

I opted for CVS test, since it’s diagnostic, and will get the FISH results back Monday morning, and final results back in 7 to 10 days. Really counting down until final results are in. 

Also, found out that I’m Rh-negative. 

Update: results from FISH are normal. Final results in about a week. 

MrsHudson2014

@hamburglarhicks I feel like 1.0mm is in the normal range, so maybe something that in the blood test is what made it that high? Both of mine were over 1.0 and my risk was much lower. 

wkuandrea

FX for you @hamburglarhicks!!

dragonette505

hamburglarhicks hoping everything turns out ok... your NT doesn't sound bad, but did you also do NIPT bloodwork? CVS will give you a definite answer!

MrsHudson2014

Test results didn't give us gender, but we are 1 in 10,000 for each baby on any of the trisomys/downs and I am negative for all CF markers. No further testing unless the anatomy scan shows concern for spina bifada. 

snackheart

I heard back on my NT scan/blood draw results today.  It came back in the normal range--1 in 4,700 for Downs, 1 in 10,000 for Trisomy 18.  Always a relief to hear!

hamburglarhicks

@dragonette505 I didn’t have NIPT as I was considered low risk. I opted for the CVS for quicker results. I haven’t heard back yet, but did call the office to check on any results, and waiting for a call back. 

parentingishard

Anyone else a crazy pregnant lady second guessing the sex results of the testing? I've read all sorts of wild stuff about the inaccuracy of the results due to vanishing twins, early testing, etc. I'm having a slow day at work hence the rabbit hole of googling. I should send myself home.

achays11

@parentingishard I second guessed DD1 all the way until I delivered. I just had a hunch/mother’s intuition that she was a boy. I was wrong. Haha. 

achays11

Results are finally up! Low risk and I picked up the sex in an envelope from my dr yesterday. Gender reveal tomorrow! 

dubcompanion

Today, I received my final results from my NT scan and bloodwork and there is a 1/95 chance of baby having DS. I did bloodwork for Counsyl and now the waiting game starts. The ultrasound looked great and the first round of blood tests came back with everything low risk. So the higher risk result this round is quite a shock. 

BitterBetty12

@dubcompanion oh man I’m sorry for the worry! Was it the 16 week bloodwork that came back high risk? I hope counsyl comes back quickly for you! There’s still a 98.9+% chance of baby being healthy with those results! Hugs friend. 

dubcompanion

@BitterBetty12 Yep, it was the 16 week bloodwork. So close to being out of the first trimester testing woods. Odds are indeed still in our favor, and I’m trying to hold on to those. It’s both comforting and terrifying that Counsyl can provide a more definitive answer. But I know my sanity isn’t okay with being left in the dark for 6 months. Thanks for the kind words!

tosh24

@dubcompanion My screening blood work came back at 1/40 risk of DS (2.5%). I then had the NIPT (Harmony) which came back low risk (1/10,000). They still offered the amnio in case I wanted a 100% diagnostic answer but I declined after the NIPT results came back. Still a but nervous for the anatomy scan and hope everything checks out (my NT results were completely normal). FWIW, my doctor said every positive screen her patients have had with the regular screening blood work over her entire career has turned out to be a false positive. The screening blood work casts a pretty wide net. I hope your results come back quickly!

dubcompanion

Thanks @tosh24 for the reassurance!  I’ve been doing a LOT of reading, lol, even research articles, and a vast majority of it has been comforting. Glad to hear that all was well with your NIPT results! Hopefully you didn’t have to wait too long. And best of luck with your AS!

sweetyjenj

@tosh24 I hope your anatomy scan goes well! It's really reassuring hearing your experience with that and then the follow-up with harmony. My initial blood work came back 1/750, which qualified me to take the second blood test at 16-17 weeks (I'm going tomorrow), and I'm nervous! I hope that it comes back lower risk, but I'm scared it'll come back as higher risk. The NT scan and my ultrasound last week looked normal and OB isn't concerned, but I can't help but be worried. I've heard that the blood tests often come back with a "false high risk"

Angheat

I had the panorama done July 3rd and all results came back negative. I had my routine doctors appointment on Friday and they said I needed to go to the lab and have my blood drawn because panorama doesnt screen for neuro tube defects or spina bifida? Anyone with a similar experience? Just one more thing for me to worry about as I await the results......

gorgeousariel

@sweetyjenj I feel you. I got my first results back and first reading them my odds were 1:530. I was freaking out a little even though Dr said everything was normal and my NT measurement was 1.3. Well I looked at my results again a week or so later and realized based on MMS my odds are 1:50! Que REALLY freaking out. I went for the second round of blood work last week and it should be back for my appt on Tuesday. I'm praying my odds are lowered after the second round. 

BitterBetty12

@Angheat It is completely normal to have bloodwork at 16 weeks that tests for neural tube defects! As far as I’m aware it’s standard in all pregnancies unless the patient denies testing. 

skilouise

@Angheat The blood testing for neural tube defects was mentioned by the OB at my 13 week appointment, but wasn't brought up again at my 17 week appointment. I think it's fairly common testing, but considering my anatomy scan is only two weeks away, I didn't personally think it was critical to get the blood test also. 

joniandtoe

Hello everyone. Without going into personal history (I am on the PGAL group) the bloodwork between 16 and 20 weeks (triple/quad marker screening) is an important piece of data for screening for Neural tube defects and spina bifida. That bloodwork measures something called AFP (alpha fetal protein) level which, when elevated MIGHT indicate the possibility of neural tube defects. Neural tube defects, although rare, can go undetected in ultrasounds prior to the anatomy scan. It is also important to know that neural tube defects span a very wide spectrum of conditions.

Depending on your personal beliefs, and the laws in your state, the AFP screening can be a critical piece of data if you feel that you would consider a medical interruption of your pregnancy should your 20 week scan identify a severe anomaly. If the results are concerning to your Dr., they will often move your anatomy scan up a few weeks (esp. If you live in a state where 20 weeks is the cutoff for interruption of pregnancy).

 I hesitated to post this because the last thing I ever want to do is give my fellow expectant mommas more to worry about, but I am also a believer in giving us moms-to-be as much information as possible when deciding to opt in or out of screenings and tests. So if you are uncertain please talk with your Dr. and get more information on the why and what if's that surround these tests. 



 

nononorman

@Angheat my doctor does this too but it’s voluntary. I keep forgetting to go have my blood drawn but I need to. @joniandtoe said, neural tube defects span quite a range, many/most of which are not reasons I would consider “interruption” but the info is good to have esp since many of the possible issues can require surgery pretty soon after birth. Neural tube defects wouldn’t show up on any earlier tests including the NT or NIPT. 

skilouise

Just looked at our bill for the NT, and apparently that clinic (separate from our OB's office) ran the AFP with the NT.  Does anyone know what the purpose of testing AFP at ~13 weeks would have been? I thought it was only a useful measure a few weeks after that, but I may have misunderstood. 

nononorman

@AshVA I was told integrated screen for neural tube defects is two readings- one blood draw aroun 12, then one around 16- something about comparing numbers?

sweetyjenj

FINALLY got the results back on our second trimester screening (i mentioned before that my initial test results bumped us into the category of needing a follow-up). I was so nervous that we'd be at an even higher risk, but I think they came back all clear? The doctor sent me a message in my test results just saying the "test results came back and everything is fine!" but there's no 1/xxxxx score, so I guess it just must have come back as lower risk than the first test, otherwise they'd have to notify me, right? I'll just take this as good news

VallieS86

So far I just had the 12 week blood work and u/s. That stuff came back fine and since I tested negative for the 23 most common forms of cystic fibrosis we decided not to go further and test for the other 180 or so. I have my 2nd trimester blood work appt a week from this coming monday. Not too concerned since the rest came back fine? 

jgil85

I decided to do the Informaseq test and just got the results today. No abnormalities and baby is a boy! 

dubcompanion

We got our Counsyl test results back. Baby is at low risk for genetic abnormalities and we are having a BOY! 

If I am ever pregnant again, I will not do the sequential screening next time around. I think we’ll look into just doing NIPT.

BitterBetty12

@dubcompanion I’ve been stalking this thread for your results! Ahh. I’m so happy for you!!

sweetyjenj

@dubcompanion YAY! I'm so happy for you! I can imagine that wait for those results was a rough one!