Received the dreaded call from my doctor (re: the NT results)

idonthavethis

My doctor called last night and told me my chance of the baby having Downs Syndrome is 1 in 33--with my age it should be closer to 1 in 300.  He wanted DH and I to go see the genetic counselor this morning to get more information which we did.

The lady was really nice and said the chance of having a healthy baby is 97% (sounds so much better to me than that 1 in 33 for some reason) and there are two tests we can do to find out for sure. We know that we won't terminate but still want to know to be prepared for the worst. The first could be performed now and has a 1 in 200 chance of miscarriage and the second, the amnio, could be performed at 16 weeks and that only has a 1 in 400 chance of miscarriage.

So we decided to go with the amnio. I'm nervous, hoping for the best, and just want things to be ok. So many things have been rushing through our heads since last night.

Has anyone else had an experience with any of this?

weezie825

HUGS.  I am so sorry that you are going through this! 

Since you have already stated that you know that you will not terminate you may want to discuss with your doctor holding off on the amnio until after 26 weeks (viability) just in case it causes your water to break.  I know the amnio is a relatively low risk procedure, but only you and your husband can decide how much risk you are willing to take.

idonthavethis

weezie825:

HUGS.  I am so sorry that you are going through this! 

Since you have already stated that you know that you will not terminate you may want to discuss with your doctor holding off on the amnio until after 26 weeks (viability) just in case it causes your water to break.  I know the amnio is a relatively low risk procedure, but only you and your husband can decide how much risk you are willing to take.

Thanks for that. I didn't know my water breaking was a risk--I will definitely discuss it with him.

jcsntms06

Oh I'm so sorry to hear this. I would definitely talk to the doctor about the amino. Sending lots of thoughts and prayers.

mrs. remy

I'm so sorry!! I don't have any personal experience but know this causes stress for so many.  I do remember a lot of ladies on the bump posting very similar stories when I was pregnant and they all turned out ok.

Even though it sounds scary, look at the numbers....you have a 97% chance of having a normal and healthy baby. I am not sure which procedure I would go with but I am wishing you the best in whatever you decide. Hugs!!

FieryIrishAngel

Oh, I'm so sorry to hear this.  I can imagine you're feeling sad, confused and concerned.

I've not been through it, so I can't offer up a course of action or any anecdotes, but I do read a blogger who has a daughter with DS.  Her post about giving birth and realizing her daughter had it is one of the most moving, heart-wrenching pieces I've ever read, and she's my hero for how she's taken it all in stride.  It may be too early for that since your chances are still just small chances, but if you'd like to read it, I'd be happy to send it your way.

KathrynMD

oh honey - hugs!

I will be thinking about your guys and hoping for the best for you all!

moonfaerie

I'm so sorry to hear you have to go through this. I don't have experience with this exactly, but want to wish you the best. Your chances are still great of the baby not having Down's, so that is hopefully encouraging, until you can find out for sure.

Mella&T

I'm so sorry that you have to go through this, but I would definitely focus on the 97% figure. I would also get all your options in terms of the amnio since like pp said I would definitely want to wait until later on in the pregnancy if possible.

I also second FIA's love of that blog...it's amazing. 

::hugs:: Hoping for the best for you and your LO.

Cooper81

So sorry you guys are going through this, I imagine your heads are spinning. One of my good friends is going through something horrible right now with her pregnancy, she had an amnio and thorugh her research (extensive) she found that the risks durign an amnio are much lower, esp. as the experience level of the doctor goes up.

Best of luck

idonthavethis

Thank you all so much.

SarahKate31

I'm very sorry to hear this! I agree with pps about getting some more info about the amnio from your Dr. If it was me, I'd want to do the amnio and get as much information as possible. Try to focus on the 97% - those are good odds!! I hope the results are reassuring.

Lisa1107

I am sorry you are going through this, but it is better to find out sooner rather than later so you can be prepared. From the info you provided, the percentages are still on your side.

I went through something similar with my pregnancy. My NT results came back right at the cut-off for my age so we opted to have an amnio. I was very scared, but the thought of the procedure is so much worse that the actual procedure. It feels like a bee sting and then pressure. Afterward you have menstrual like cramps for the day and I was asked to take it easy. They use a sonogram to figure out where the baby isn't and then they insert a needle in that space. It is such a small puncture that they make, your body will replace the fluid and the punture in the placental wall. We had our amnio and genetic counseling done at St. Joeseph's Perinatal Center. The risk of misscarriage is less than with the CVS procedure and goes down with the experince of the doctor. I highly reccomend St. Joeseph's, they helped make our experience better. Let me know if you have more questions.

madladybride

This is a hard thing to deal with. All in all, your chances are pretty good that the baby is ok. It all depends on how soon you want to know. If the waiting will kill you, go with the CVS, just make sure you have a very experienced Dr. I have had both and cannot say that one was more painful/traumatic than the other. Good luck.

idonthavethis

Lisa1107:

I am sorry you are going through this, but it is better to find out sooner rather than later so you can be prepared. From the info you provided, the percentages are still on your side.

I went through something similar with my pregnancy. My NT results came back right at the cut-off for my age so we opted to have an amnio. I was very scared, but the thought of the procedure is so much worse that the actual procedure. It feels like a bee sting and then pressure. Afterward you have menstrual like cramps for the day and I was asked to take it easy. They use a sonogram to figure out where the baby isn't and then they insert a needle in that space. It is such a small puncture that they make, your body will replace the fluid and the punture in the placental wall. We had our amnio and genetic counseling done at St. Joeseph's Perinatal Center. The risk of misscarriage is less than with the CVS procedure and goes down with the experince of the doctor. I highly reccomend St. Joeseph's, they helped make our experience better. Let me know if you have more questions.

Thank you so much for sharing your experience. I do give myself Lovenox injections twice a day so I'm hoping the needle won't be such a huge shock for me. I just don't want to see it! My doctor be actually be the one performing the procedure and I trust him 100% which makes me feel more at ease.

Lisa and Mickey

I know how scary that can be. From the u/s portion of the NT they said they found markers that could possibly mean something and the blood test would tell us more. Thankfully, days later we got a call saying everything was ok. We didn't tell anyone because my mom specifically asked me not to have an NT. She knows at least 4 women who went through exactly what you are. The results of the follow up testing came back normal each time. I'm not trying to give false hope, just to say I'm pretty sure more often than not it's a false alarm. I'll be saying a prayer for you and your family!

Ragdolls

I'm so sorry you guys are dealing with this.  FWIW, I agree with PP's suggestions about the amnio.  And just think - if the doctor had called to tell you that you had a 32/33 chance of something being wrong you'd be scared to death and pretty well convinced that it was going to happen...and this is your chance of having a perfectly healthy baby!!  I know these are just mind games, though, and won't keep you from worrying.  If anything at all is wrong, you will have so much support - and so much inspiration blogs like the one that FIA mentioned. 

::hugs!!!!::

Lisa1107

idonthavethis:

Lisa1107:

I am sorry you are going through this, but it is better to find out sooner rather than later so you can be prepared. From the info you provided, the percentages are still on your side.

I went through something similar with my pregnancy. My NT results came back right at the cut-off for my age so we opted to have an amnio. I was very scared, but the thought of the procedure is so much worse that the actual procedure. It feels like a bee sting and then pressure. Afterward you have menstrual like cramps for the day and I was asked to take it easy. They use a sonogram to figure out where the baby isn't and then they insert a needle in that space. It is such a small puncture that they make, your body will replace the fluid and the punture in the placental wall. We had our amnio and genetic counseling done at St. Joeseph's Perinatal Center. The risk of misscarriage is less than with the CVS procedure and goes down with the experince of the doctor. I highly reccomend St. Joeseph's, they helped make our experience better. Let me know if you have more questions.

Thank you so much for sharing your experience. I do give myself Lovenox injections twice a day so I'm hoping the needle won't be such a huge shock for me. I just don't want to see it! My doctor be actually be the one performing the procedure and I trust him 100% which makes me feel more at ease.

You're welcome! There is a high probability that everything will turn out fine. I failed to mentioned that everything was fine for us. Our baby is a perfectly healthy little man! As far as the needle goes, I am petrified of needles and I was able to do it. I didn't look...I placed a towel over my eyes.

asnowracer

I'm so sorry you're going through this. I'm sure the waiting game is not easy, either. Keep us posted, I'll be keeping you in my T & P!

ThePastor'sWife

I'm so sorry you're going through this - the waiting game is awful.   But like the others have said, 97% is a GREAT figure to focus on in the meantime - those are pretty amazing numbers there that everything will be fine w/your LO.  I'll be keeping you in my T&Ps - keep us posted on how things turn out for you!

WormandElizabeth

I am so sorry to hear that you received bad news! It's so hard to not to worry during a pregnancy. Like other's have mentioned, I hope that you get some better news soon.

Unfortunately, I don't have experience with CVS or amnio testing, but I do have a 15 year-old sister with Downs- who is an extremely healthy girl. In fact, she has been one of the biggest influences in my life. As well, my mom (a NICU nurse) has helped counsel many new moms to babies with Downs (she has gone in on her days off to talk to moms) and if you are interested in talking to her for more info, I'd be happy to send you her contact information. Lots of T&Ps for you and your family during this difficult time.

bradyg927

I'm so sorry you have to go through this...sending good vibes your way.  Stay positive and focus on the 97%!  I would definitely do an amnio, but just wait until you have passed viability if possible.

Megcheer2

Lots of T&P for you guys. Like everyone else said, you have a great chance of still having a perfectly healthy baby. Please keep us posted. I will be thinking of you.

ngentile

Sending thoughts and prayers your way too, hopefully the results were a false positive...  Keep us posted.

KRMac

Sending you so many T&P.  I'll be thinking about your family and your little baby.  Be strong.

lauranne

I am so sorry.

We did have our NT Scan and genetic counseling done through GBMC and I thought they were fabulous in explaining everything to me.  I would research the amnio a bit more, because it can cause complications leading to labor.

I will keep you in my prayers.

Jackie2200

I am so sorry you have to go through this.  ((hugs))

PocaLoca

I'm so sorry that you're going through this. I recently went through something slightly similar. At my 10 week scan my babys nuchal fold measured 3.6 they also took my blood to check my hCG level. My fianc? and I both have a family history of members with down's so they were concerned anyway.During the scan the doctor noted that the size of the neck really worried him, he asked me if I wanted to go through with a CVS or an amnio. Since the risk of miscarriage was so high with a CVS I decided against it and instead went with the amnio.

My blood work came back fine but because of the size of his neck they raised my risk from 1:1487 to 1:126 (the same risk as a 39-41 year old woman!). Needless to say I was so stressed out. I'm 25 and this is my first child so all of this is a growing/learning experience.

My amnio took place on Friday. The technician was really nice and understanding. It was slightly painful, mostly uncomfortable but I did the amnio for peace of mind. If my son had down's I would still keep him. My preliminary results came back normal, I'm waiting for my final results to celebrate. You will be fine, and so will your baby. Think positive thoughts. Read to your baby, play music and ignore the risks.

idonthavethis

PocaLoca:

I'm so sorry that you're going through this. I recently went through something slightly similar. At my 10 week scan my babys nuchal fold measured 3.6 they also took my blood to check my hCG level. My fianc? and I both have a family history of members with down's so they were concerned anyway.During the scan the doctor noted that the size of the neck really worried him, he asked me if I wanted to go through with a CVS or an amnio. Since the risk of miscarriage was so high with a CVS I decided against it and instead went with the amnio.

My blood work came back fine but because of the size of his neck they raised my risk from 1:1487 to 1:126 (the same risk as a 39-41 year old woman!). Needless to say I was so stressed out. I'm 25 and this is my first child so all of this is a growing/learning experience.

My amnio took place on Friday. The technician was really nice and understanding. It was slightly painful, mostly uncomfortable but I did the amnio for peace of mind. If my son had down's I would still keep him. My preliminary results came back normal, I'm waiting for my final results to celebrate. You will be fine, and so will your baby. Think positive thoughts. Read to your baby, play music and ignore the risks.

Thank you very much. And just for your information, the genetic counselor we met with said she has never known the FISH results (or the early ones) to be wrong so it looks like you're in the clear. That is wonderful!  My amnio is next Monday, I wish it were today so we can just know.

PocaLoca

idonthavethis:

PocaLoca:

I'm so sorry that you're going through this. I recently went through something slightly similar. At my 10 week scan my babys nuchal fold measured 3.6 they also took my blood to check my hCG level. My fianc? and I both have a family history of members with down's so they were concerned anyway.During the scan the doctor noted that the size of the neck really worried him, he asked me if I wanted to go through with a CVS or an amnio. Since the risk of miscarriage was so high with a CVS I decided against it and instead went with the amnio.

My blood work came back fine but because of the size of his neck they raised my risk from 1:1487 to 1:126 (the same risk as a 39-41 year old woman!). Needless to say I was so stressed out. I'm 25 and this is my first child so all of this is a growing/learning experience.

My amnio took place on Friday. The technician was really nice and understanding. It was slightly painful, mostly uncomfortable but I did the amnio for peace of mind. If my son had down's I would still keep him. My preliminary results came back normal, I'm waiting for my final results to celebrate. You will be fine, and so will your baby. Think positive thoughts. Read to your baby, play music and ignore the risks.

Thank you very much. And just for your information, the genetic counselor we met with said she has never known the FISH results (or the early ones) to be wrong so it looks like you're in the clear. That is wonderful!  My amnio is next Monday, I wish it were today so we can just know.

 Just an update, my results came back fine. 46 chromosomes in all. I wish the same for you.