Genetic Testing Results

galactickates

@ers7924 I was told my results would take 2 weeks but it ended up only being a week.  

sparkymcgeee

Same @ers7924 except I had to have it done again. So I guess it will be two weeks after all. Lol

julesf817

I knew it!

wkuandrea

yay @julesf817! I've been dying to know, thanks for posting we have our testing done next Monday, so we're still a couple of weeks away from knowing anything! 

texasmommie

Sooooo... I got a phone call from my doctor's office regarding my blood work from last week. I honestly didn't know what they were testing. I have been poked nearly every time I have gone to the doctor, and stopped asking what they were testing for. Well, it happened to be a redo of the NIPT results since the last time they couldn't get the gender or down syndrome results (possibly too early, even though I was 10w3d). Down syndrome piece came back negative and she said we were having a BOY!! Yay! 

galactickates

Does anyone know how to create a poll? I'd love to see the split between boys and girls.  I just don't know how to do it.  

sparkymcgeee

galactickates said:

Does anyone know how to create a poll? I'd love to see the split between boys and girls.  I just don't know how to do it.  

I do. Did someone already do it?

galactickates

@sparkymcgeee nope not yet.  That would be great if you could. Thanks!

kkb0520

Just got our results back and baby is a healthy little girl. Today is DH’s birthday so I’m surprising him with the news tonight- man this baby girl is going to have him wrapped around her finger.

KariAnn323

@ers7924 I was told two weeks but got results in a week. They usually tell you the max turn around time and not the average.

AliKay20

kkb0520 said:

Just got our results back and baby is a healthy little girl. Today is DH’s birthday so I’m surprising him with the news tonight- man this baby girl is going to have him wrapped around her finger.

You are SO right! Happened w DH. Something about DH & DD’s bond that I sometimes feel left out! Lol. 

mrsmang

Just got back our Panorama results - low risk on everything, all looks wonderful, and it’s a girl!!!  We are both so excited!!

thisnthat314

Results are back for panorama, low risk on all and another BOY!!

ersh1010

Well you ladies were right, I only had to wait 5 days to learn we got low risk and it's a girl! 

peachy104

Low risk and a GIRL for us too! Our first little baby! 

AliKay20

Wow! January baby girls catching up!! 

jemommy3

Low risk with Maternit21 and it's a boy!

sweetyjenj

We did our NT scan yesterday, but we're waiting for blood results. While we will know more about specifics from the doctor, the tech told us that the NT was in the normal range, and also pointed out a few good other things. We also found out (using the nub theory, tech said they're 95% accurate and only tell patients when they have a clear image) we're having a boy We're waiting to buy any boy things until we get the confirmation at the anatomy scan, but it's so fun to dream about our future with a boy in it! Our DD will be 2 just after this baby is born, so this will be interesting!

tosh24

So, I did end up doing the NIPT after all. The standard first trimester screening (FTS) that measures a bunch of hormones and proteins came back with an increased risk of Downs (2.5% or 1/40) so that qualified me for extra testing and I got the NIPT for free. The FTS does not test actual fetal DNA, only hormones and proteins produced by the placenta and they compare your results to other confirmed trisomy pregnancies. All of my results, while some above or below average, were all within the normal range except for one, which I guess bumped me out of the "low risk" category. This one protein factor that was out of range was only added to the standard screening about 1-2 years ago, so the genetic counsellor said there isn't a huge data pool for comparison. My NT scan came back clear (NT @ 1.5mm and nasal bone fine). So, I had my blood drawn for the NIPT yesterday and now I wait. I'm trying not to freak out as my risk still came back at the low end (2.5%) but it's hard not to worry. I can't believe after everything we went through to get this pregnancy, I have yet another bump in the road. FX baby is healthy.

nononorman

Fingers crossed for you @tosh24. The NT result is good and I hear there are lots of false positives on the screenings- they want to catch as many people who could ever possibly have it so they cast a wide net. Chances are definitely still in your favor by a large margin. Will be thinking of you. 

sparkymcgeee

HOW IS THIS POSSIBLE!? Another redraw required!? Are you effing kidding me?! 

AliKay20

@sparkymcgeee noooooo!!! What is this nonsense. Frustrated for you!!

I’m at the doc’s office waiting to get my blood drawn. Did you guys also select to do preparent carrier test? I just selected for aneuploidy screening (for the baby).

sparkymcgeee

AliKay20 said:

@sparkymcgeee noooooo!!! What is this nonsense. Frustrated for you!!

I’m at the doc’s office waiting to get my blood drawn. Did you guys also select to do preparent carrier test? I just selected for aneuploidy screening (for the baby).

I wasn't given that option. 

nononorman

@AliKay20 I was given that option last pregnancy but opted out. They would have to test you, then dep on the results test the father... then they’d know like 50/50 (or some other percentage) if your kid was gonna have that issue. I think they told me they could test for 150 different things. Most of it wouldn’t have made a difference to me at that stage (very few of the things they test for are incompatible w life... I think most are things like cystic fibrosis?) the really bad ones are things like Tay Sachs which generally you’d know if you could be a carrier. If you suspect you might be, the test could be worth it. I just know my husband and I overlap on very little genetically/racially so the chances of us both being carriers on many of those things would be slim. 

AliKay20

Oh man, wish I saw this earlier! They told me that it’s pretty standard to do both so I changed my mind at the last min. Eek. Just got back from the office and now, we wait. I need to call the office later and tell them to disclose everything to us but the gender. We’re not sure we want to know yet. 

ladystout08

FX for you @tosh24 . 

NIPT draw this morning, she said they'd call me in about a week.

mrsmang

@sparkymcgeee nooo!!  I’m so sorry, that totally sucks. 

@AliKay20 they told us they were both standard too, so we did both. You can definitely tell them ahead not to tell you the gender, but we had told them ahead of time we did want to know and they still checked on the phone again before they told us anything. I don’t think they would ever just tell you out of the blue, although better said than sorry!

leighbrek

Everything came back negative, and I got to hear the baby's heartbeat today! I saw it at the ultrasound, but there's something about actually hearing it that is so comforting.

Kabazaba

@sparkymcgeee TB needs a WTF reaction. I cannot believe you have to get ANOTHER draw.

@tosh24 FX the NIPT will give you some relief. Like Potterphile, my doc told me there are lots of false positives and even with a positive NIPT, given my age (33), a positive result really means it's something like 50/50 the kid would have any of the three abnormalities they test for (and that they use it more as an indication an amniocentesis would be warranted). But of course FX that the NIPT comes back all low-risk

sparkymcgeee

My bigger worry now is that this could mean a couple of different things. Like the baby may have passed away. Or there is actually something significantly wrong with the genetics of the baby. I'm trying not to freak out. I have an appointment today so I'm just holding on until then. I will ask for the NT scan and hopefully everything looks fine. If everything looks okay for that then I'll have the redraw done AGAIN. At 13 weeks if they didn't get a result I would just lose all faith in this test. 

achays11

FX everything looks good at your appointment @sparkymcgeee!

greenhillgirl

Thinking of you! sparkymcgeee 

lurvleybunchococonuts

sparkymcgeee said:

My bigger worry now is that this could mean a couple of different things. Like the baby may have passed away. Or there is actually something significantly wrong with the genetics of the baby. I'm trying not to freak out. I have an appointment today so I'm just holding on until then. I will ask for the NT scan and hopefully everything looks fine. If everything looks okay for that then I'll have the redraw done AGAIN. At 13 weeks if they didn't get a result I would just lose all faith in this test. 

*Lurking from Nov '18*
I had my NIPT drawn at 16+5 which came back insufficient fetal DNA and then a redraw at 18+5 with the same result.  Thankfully my A/S is today and we'll see what needs to be done/next steps if necessary depending on if any markers are seen, etc, but personally I have ZERO faith in the NIPT, just my anecdotal $0.02.  

JeeGooDowster

NT Scan/blood Draw/Materniti 21 done on 6/25.  Geneticist called me on 7/5....NT scan showed a little high fluid behind the neck (2.14 - which is still in normal range just on the high end) and paired with my age (I'm 36 and going to be 37 when i deliver) gave me a 1 in 75 chance of baby having down syndrome...however due to my blood draw and Maternti 21 testing...all levels were of normal range which lowered the chances of baby having downs to 1 in 10,000 chance...I'm still a little nervous of the 1 in 75 but...i feel a little better that the blood testing was what proved otherwise....

I'm having a boy :-)

kaf1788

@sparkymcgeee thinking of you! So sorry you have to deal with this!


I got my results back today. Everything is low risk and my sneak peek results were confirmed. I'm having a boy!

sparkymcgeee

lurvleybunchococonuts said:

sparkymcgeee said:

My bigger worry now is that this could mean a couple of different things. Like the baby may have passed away. Or there is actually something significantly wrong with the genetics of the baby. I'm trying not to freak out. I have an appointment today so I'm just holding on until then. I will ask for the NT scan and hopefully everything looks fine. If everything looks okay for that then I'll have the redraw done AGAIN. At 13 weeks if they didn't get a result I would just lose all faith in this test. 

*Lurking from Nov '18*
I had my NIPT drawn at 16+5 which came back insufficient fetal DNA and then a redraw at 18+5 with the same result.  Thankfully my A/S is today and we'll see what needs to be done/next steps if necessary depending on if any markers are seen, etc, but personally I have ZERO faith in the NIPT, just my anecdotal $0.02.  

I hope this doesn't come out wrong but are you on the larger side? They said if you are over 200lbs the chances of getting a good result is harder. I'm hoping that's my problem. I'm hovering at 215ish. 

lurvleybunchococonuts

@sparkymcgeee YGPM but also, haha, no offense taken.  Yes, I'm extra "fluffy".  Actually one of the case studies I've read over the past few days talks about increased BMI and low fetal fraction %.  

DLpanda08

Thinking of you @tosh24!

@sparkymcgeee that’s crazy that they need to draw AGAIN!FX that this draw gets you some results, but I totally get why you would lose faith in the test at this point.

wkuandrea

FX @tosh24 and @sparkymcgeee! I have my NIPT next Monday and am also fluffy, so now I'm concerned it won't work... but all we can do is try and hope and wait. 

gorgeousariel

Thinking of you @tosh24 and @sparkymcgeee!