NT results?I don't know what to do

JonesBaby0624

We had our NT scan last week and got our measurement of 2.3, the head was measuring small, they found a choroid plexus cyst on the brain, and said my uterus is measuring about 4 weeks ahead.  We went back today for our blood work results and a check up on some bleeding I had last night. The Papp-a was .52 and hcg was .78.  The ratios they gave us are downs syndrome 1:168 and T18 (which they also called Edwards syndrome) 1:60.  We meet with the genetic counselor on the 28th.  I know these ratios are not as bad as some I have seen but I am very upset.

All this information in 1 week is a little, scratch that, a lot overwhelming.  The doctor wants to wait a couple of weeks and do an amnio.  I told him I don't want anymore tests because I WILL NOT terminate.  He said they need the information because it will help them with treatment, let them know if their is something they can do in utero, and be prepared to help the baby when she is born.

So far these tests have nothing but scare me and I don't know how I feel about having more.  I am not sure what I want to do.  Advice?

kirac

I don't have much advice here except I would push the doctor to answer in what cases would it help them to know what to expect before?  

If you wouldn't terminate, there is no reason for you to take the test.

benoitfan

If you don't want the amnio because a diagnosis won't cause you to terminate then that is your position. 

I am 40 yo and there is a possiblity that my NT results combined with the 1st and 2nd tri blood draws may show a heightened risk for a trisomy.  In all likelihood if this baby were to have one of these abnormalities, then I would find it next to impossible to terminate, so we would have a special needs baby.  Keeping that in mind, I know the docs prefer to have a firm diagnosis so they can decide if a special delivery is required and what neo-natal specialists to have at the delivery.  My hospital just has a simple nicu, so if things were to get really complicated, I would probably need to deliver an hour or so away at a children's hospital with a more specialized nicu.  I would want to know definitively so that we could give baby the safest entry to the world as possible.

I know amnio is scarey.  Unfortunately for me, they do not offer MaternT21 or verifi testing here.  It is my understanding that it tests for all the trisomies and unlike the NT scan is a diagnostic test, rather than an odds test.  You should find out if that test is available in your area, if it is covered by insurance and how much the out of pocket cost would be to you.  In your situation it might be a better way for you and the doctors to determine how safest to delivery your baby and hopefully will indicate that the NT scan/bloodwork gave you a false screen positive.

jessandandy09

I am sorry you have had such scary results.  It is hard to face the pressure we feel from doctors.  Amnio is a test that many people feel passionate about and it is hard to give advice on.  I cant imagine that there is any thing the doc could do in utero for a baby with a genetic disorder.  If you know you will not terminate you could wait until you have your level 2 u/s around 20 weeks and see how things are going.  Here is a personal story to hopefully help ease your mind.  I refused any invasive testing, i also skipped having an NT scan or quad screen.  when my level 2 u/s came around I accepted it because I wanted to make sure we had functioning organs etc, the doctor found 2 soft markers for downs syndrome (I am 35 so of course I had elevated risk already).  My husband and I worried and worried, my perinatologist urged us to have an amnio, but we didn't want to. they scheduled a follow up u/s a month later and the issues they found had resolved themselves.  Our baby girl was born healthy. 

If you are a person who wants to know for sure ahead of time so you can prepare and if you can face the small risks involved with amnio, then you should do it. But its not for everybody and you dont HAVE to if you are uncomfortable--but really only you can know whats in your heart and make this decision.  good luck sweetie, I know this can be a scary time.

itsmevkb

I would get the amnio.  I wouldn't be getting it to decide whether or not to terminate, but I'd be getting it for peace of mind.  If my baby was fine I would want to know that sooner rather than later and instead of worrying the rest of my pregnancy about it.  And, if there was something wrong, I would want to know that so that I could prepare. 

stever

Um, get the amnio. Knowledge is power and throwing your hands up and saying, "all these tests do is scare me so I'd rather not know," is crazy, IMO.

leffe1

My odds were 1:74 for Down. I had the amnio because I needed to know. We wouldn't have terminated either but I didn't want to go through the rest of my pg worrying. Those odds are still VERY much in your favor that nothing is wrong. The tests are super scary but it seems the only way out is to complete testing including the amnio or Mat 21.Good luck.

charteachs

I had 1/100 odds dor Downs. I also would never terminate but I did the MaterniT21 blood test for peace of mind. Everything ended up being fine. As far as that cyst goes I hope they told you that it corrects itself in most cases. In my last pregnancy (twin girls) my baby B had one which was gone by our next u/s.

benniferbaby

itsmevkb:

I would get the amnio.  I wouldn't be getting it to decide whether or not to terminate, but I'd be getting it for peace of mind.  If my baby was fine I would want to know that sooner rather than later and instead of worrying the rest of my pregnancy about it.  And, if there was something wrong, I would want to know that so that I could prepare. 

This. Better to know and be either relieved or prepared, as the case may be. Good luck!

JonesBaby0624

Thanks to those of you who had kind words and advice.

bklynbmp

I would get the amnio for all the reasons mentioned AND the fact that if it comes back clean you will be so relieved and be able to enjoy the pregnancy a much happier woman.

For that reason alone its worth it!

JennyP1

I'm responding late to this post but it hit home so I wanted to respond. With my first pg DH and I disagreed on the screening tests but I did them anyway and everything turned out fine. With this pg my DH is still solidly against any screenings because he knows that I would not terminate and he doesn't want me to spend my entire pregnancy fretting and depressed if something did show up, so I have decided not to do any screenings this time around. That being said, since you already did one screening and got results that you are concerned about, I would suggest that you consider going forward with further testing. I like the idea of waiting until the anatomy scan to see if there is anything detectible there, but if that's too much waiting then you may want to go with the other tests.

I'm sure everything will be fine with your LO, and I wish you peace in making your decision. (((Hugs)))