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December 2012 Moms
Genetics testing gone bad...
so I had my NT scan week before last and last Wednesday got a call from my OB that two tests (DS and Spinabifida) came back negative and one test Trisomy 18 came back with a positive screening result. Of course I completely freaked as you never expect that after uneventful (no MS/no cramping) quiet 13 weeks that something could be wrong. I didn't even know what Trisomy 18 was. She said that this is only a screening and only reads levels of hormones in the blood then provides a risk assesment. Regardless, never thinking anything could be wrong with your baby and then finding out you are now in the risk group is horrifying. We were given 1:105 odds that this baby would have the repeated gene #18. She recommended setting an apt with the genetic counselor and scheduling an amnio. Terrified and crying I began my search on what this genetic disorder entails. Well needless to say it is not good but some positive findings is that a HUGE majority of these screens are false positives. I read many many women post that had 1:8 or 1:13 odds that had false positive screens. This gave me some comfort although now I have this constant wondering thought that we could be the 1. I am so upset that I even got this genetic testing done being that we are only just entering our 14th week and there is no diagnostic testing that is certain that we can even do (amnio and level 2 ultrasound) I now have to try and stay positive and pray that this baby keeps growing healthy each day. To all you ladies out there do your research before your NT Scan and if I were you wait until you are closer to the 18-20 week mark because if you get a positive scan you can at least find our for certain if the baby has an genetic issues. I am terribly afraid of getting the amnio.....any advice from women that have had one?
God Bless!
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Re: Genetics testing gone bad...
I have not had the amnio, but I do know that there is large percentage of false positive's with these tests- keep in mind that even with that ratio, the odds are still in your favor.
I am so sorry that you have to deal with this right now. Try to stay positive and schedule an appt with the genetic counselor- talking with them may give you peace of mind- you are in my prayers.
There is another option that has just become available. It is called the Free Fetal DNA. I don't know if your insurance covers it (It is really really new) and it is a $500 test.
My perinatalogist was telling me about it after my NT scan- just in case I wanted to. If I were in your position, I would look into it.
I am so sorry that you are going through this. (((HUGS)))
Sorry yes I meant you don't have to wait to take the test, 14 weeks is fine. I have heard of getting the results in a week though.
I'm sorry to hear you are going through this stress.
But just remember, it is only a risk. a 1 in x chance is just that. A chance. You may have a higher risk than others, but the odds are STILL in your favor. You are still less than 1% likely to have this problem.
Those people with a 1 in 3 risk had a 66% chance of having a child without the trisonomy 18, and they were part of the majority. So it's not a "false positive" It's just a chance. They were told they had a higher chance than others, but that does not mean it's the end. Even if you had a 1 in 2 chance, that's still a 50/50. So remember, your 99% of not having this issue IS on your side. I know this won't ease your fears, as is completely understandable, but hopefully it will give you more hope.
I am hoping that the percentage stays on your side. I'm hoping you are NOT that 1 in 105 and you can rest easy soon.
3/12 150mg Clomid + B2B IUI =BFP!! TWINS!
Vanishing twin at week 6
Tater-tot born January 3rd 2013
2 IUI's in 2016- BFN
3 IUI's in 2017- BFN
8/17 IUI BFP!!!!!!!!
I am in a very similar situation. My NT measurement was on the higher end but they said the nasal bone is present, which is a good sign. Then they came back last Friday and hit with a 1:60 chance of T18, they called it Edwards Syndrome. We have an appointment with the genetics counselor on Thursday and they are really pushing for the amnio.
I am at the point where I am saying "no more testing". I know people don't understand that, in fact, I was called crazy on another board. (nothing some **super sweet** person kicking you while you are down.
EDD: 06/25/2006 M/C: 11/03/2005
EDD: 04/08/2012 M/C: 09/03/2011
EDD: 12/27/2012 Born Sleeping: 07/19/2012
EDD: 12/07/2013 M/C 05/30/2013 & 05/31/2013
EDD: 07/01/2016 Born sleeping: 03/02/2016
There is also another one called the Harmony Prenatal Test, that as far as I know may be covered by insurance (at least that is what they told me for Massachusetts). It is a blood test that looks for fetal DNA in mom's blood. It looks for Trisomy 21, 18, and 13.
Good luck! You still have a less than 1% chance of having it, but I can understand your worry.
I talked to a genetic counselor when we found out I was pregnant to test for some muscle disorders. My older brother has Muscular Dystrophy, which means my mother is a carrier, so I had a 50% chance of being a carrier as well. After speaking with the geneticist about my family history we went ahead with the testing, well it turned out I was a carrier so my baby could be affected by it. If our baby was a girl the worst case scenario would be that she would be a carrier like me. We did an u/s to determine the sex, hoping with all our hearts that baby was a girl, and found out baby is a boy. Baby now has a 50% chance of having Muscular Dystrophy, the only way for us to find out was to do the amnio.We just had the amnio done on Thursday and are nervously awaiting the results.
I was terrified of the amnio, because well its a needle going into your stomach, but it was actually the easiest needle I have ever had in me. I brought DH for support and because they suggest not driving afterwards. I kept my eyes closed the entire time and never even saw the needle, the dr said "you're going to feel a small cramp" and put the needle in. It felt more like a tummy pain then a needle going in and I even asked him if it was in. DH watched the whole thing on the u/s machine while I stayed eyes shut. It was less than a minute and then the dr said "okay you will feel another small cramp" and then the needle was out. It was really nothing and was much less painful then a blood draw.
I know how stressful and terrifying this situation can be, especially because we are still waiting for the results, I have gone through a ton of emotions and guilt because of this and there is really nothing anyone can say to calm you down or console you. But I want you to know that you aren't alone in what you are feeling and if you need to talk more personally just message me. I will be hoping for the best for your LO and thinking of you and your family.
Sorry you are feeling so stressed about this! Like other PP's have said, its just a risk...and not one you should necessarily put too much weight on yet...it more just indicates the next level of testing is needed, more than it indicates a problem...Like someone said yesterday, worrying will take away from you being able to enjoy your pregnancy, and worrying will not make it hurt any less should something unfortunate happen, so try to not stress, even though I know its probably a close to impossible feat.
On another note, you can only do a NT scan between 12 and 15 weeks, so you can't wait until 18-20 weeks to do it, and without, as far as I know, they won't do the second half of the screening...so don't feel too upset about doing it when you did, because unfortunately waiting after getting it, is inevitable...
Good luck with everything, I hope you have a false positive! And if you don't, T&P that you have as healthy of a baby as possible!!!
Well, I'm sorry that you are worried but I have to ditto other PP's. These are not positive or negative results. They're simply risk assessment. You could have a high risk, I think a few friends had 1:80 and have a perfectly healthy baby. You could have a low risk and have a baby with severe problems. So your negative results weren't "negative" just a low risk, low enough that it doesn't warrant further testing. Your "positive" test isn't positive, just shows an elevated risk and they need to investigate further. So, you're misunderstanding the test.
Regardless of your risk, there is always, always, always the chance that despite all indicators, your baby could have problems. Which is why pregnancy is scary.
Also, I don't understand when you say they arent doing anything to follow up, there's the AFP or the CVS (done between 15/20 weeks) and depending on those results, you'd see a counselor. They would never say "well, you show an elevated risk, see you in two months" that just makes no sense.
I hope all is well though.
Labor Buddy to Blowfish11
This exactly! Also, have you been having any placental problems? They are questioning if I currently have a placental hemorrhage and advised me not to do the NT blood work for the first tri screening because they said if you have any abnormalities with your placenta, it will highly skew the false positive results.
So sorry to hear that you're stressing about this.
Like others have said--you did not get a "positive" result. And you have a 104/105 chance of having a chromosomally normal baby! Hang in there!
Thank you so very much for sharing this. I can now take this info and ask the genetic counselor. God Bless you and your little one!
I will be praying for you! and please bounce back when you get your good news as I know just like us your baby is meant to be and the Lord has a plan for little one. I know you are afraid just like me but don't listen to those negative people out there telling you what's best....you know and get to decide what is best for you and your family! sending love and positive prayers
I really hope you are resting a little bit easier. You will be in my thoughts, and please let us know how the blood testing goes, if you are able to get your dr. to follow through.
It seems you already have a great mindset, and I wish you the best.3/12 150mg Clomid + B2B IUI =BFP!! TWINS!
Vanishing twin at week 6
Tater-tot born January 3rd 2013
2 IUI's in 2016- BFN
3 IUI's in 2017- BFN
8/17 IUI BFP!!!!!!!!
I think those two tests are one in the same, just going by different names in different places. Before the NT scan, the geneticist mentioned that to us as the best immediate follow-up IF something were to come back questionable.
Also OP, I know it's hard to wait, but the NT scan and first-tri screening HAVE to be done in the 12-14 week range... The results are not accurate if you wait longer.
Wow, thank you for sharing your journey and I am so sorry you are also having to stress during such a special time. My thoughts and prayers are with you as you wait results. Sounds like you were such a trooper during the amnio and that is exactly what i will be doing...Eyes shut the whole time! I know we are going to get positive healthy baby results...it is just meant to be! sending my love to you!