I understand your anxiety! Do you remember what your combined risk was with the blood test they do (along with the NT scan?). But if the CVS results came back perfectly normal, you should feel secure that everything is just fine! I think they are 99% accurate? It will be comforting to see your next ultrasound and know that everything is okay.
Sending positive thoughts your way! The waiting is not fun - hang in there!
The CVS is far, far more accurate than a NT scan. Did they do it at 15 weeks though? I am pretty sure it needs to be done before 11 weeks for most accurate results. I would not worry at all if the CVS was done before 12 weeks. It it was done later, I would talk to your doctor in more detail about the accuracy of the results. I can give you more info if you would like (if it was done at 15 weeks).
I am sure everything is fine. Good luck and congrats!
An NT scan along with the bloodwork typically done with them are not diagnostic tests. They simply determine risk factor and help with deciding whether you want further testing. CVS and Amnio are extremely accurate, I believe about 99%. Given that you had a clear CVS, I would truly try not to worry (I know, thats what we do best when we are pregnant!!). You can always have an amnio if you want extra reassurance. Good luck.
Thanks for your responses!
The NT measurement and CVS were done a day apart at 12 weeks which I understand is the appropriate time for a CVS. I was relieved that it (CVS) was clear however the large NT apparently still indicates something is wrong.
Blood test came back "High Risk" however I was not provided with any ratio's, risk percentages as it seems many others are. I have faith in my OB - she is very experienced and highly regarded however she did say in her experience nearly every CVS or amnio with a measurement that high has come back with a chromosome abnormality and if that is clear it is usully something wrong with the heart.She has only had a couple of cases where it has simply "self-corrected". Interestingly one with twins. The father of the baby does not support the pregnancy and the decision to continue was a particularly difficult one as our relationship has ended because of my decision to continue. After all of that it has been so hard hearing that something is wrong and living in a remote area with no family support close by I fear if it is something serious I won't be able to handle it by myself. I am dreading the next scan. I fear having to terminate now. I haven't told anyone I am pregnant in case I have to terminate (so don't want to)and am quite large already making it extremely difficult to hide. The stress is really getting to me.
Sorry for going on and on!!
No worries, get it out. We all need to vent sometimes and clearly you are in a particularly stressful situation. How awful that he left.
In all honesty, if this were me, I would probably opt to do amnio as a backup. If for no other reason then peace of mind. I know that is controversial, and I might take some flack for that suggestion, but I can tell you that for me if was the best thing I could have done. My risk factor was 1:13. In my particular case I was not going to terminate, but I did want to know one way or the other. You may want to discuss this option with your Dr.
It's good you are seeing a Dr. you trust. Remember as well that there is far more likelyhood an error was made on the NT scan then on the CVS. It is possible the measurement was off. Either way, it sounds like you need and deserve some peace of mind. I wish you well and please let us know how you are doing.
I started tearing up reading your last post because I know all too well how stressful this can be. You sound so strong and it sounds like you must really rely on that inner strength! I feel for you that you do not have a support system. Stay strong!
I agree that you'll probably want to do Amnio and if your dr thinks there may be something wrong with the heart, I beleive it's called an echo-cardiogram? Someone else here can correct me.
My combined risk after the NT scan of 3.5mm was 1:5. We were devastated. We have zero family history and already have a perfectly healthy 2-year old girl. We did CVS and the Dr raised our risk to 1:3 or 1:2 after seeing the large cystic hygroma that had formed at the back of the neck. Results came back and confirmed baby was positive for Trisomy 21 or Downs. I was 14 weeks along at this point and really feeling and looking pregnant. My dr. suspected that this was a pretty severe case and more than likely the baby would not have survived much past birth. We scheduled a D&C right away and that was now almost 4 weeks ago. It's been rough but we just know that this wasn't meant to be.
Get whatever extra testing you can and you will make the right decision for you. it's such a personal choice. I'm thinking of you and I hope this all has a very, very positive outcome!!
hi i wanted to just offer a tiny bit of info, just personal exp. i have a dd that was born in may and she has down syndrome with a heart defect. she is the light of my life, i have 3 kids i love equally but she has a spot in my heart that is special. she is work. nothing i cant handle but not as much as some babies with colic that arent born with down syndrome. you cant guarentee any baby will be an easy one. her heart surgery will be soon, and she will be much better after.
i do this with my dh, but i have to say he works lots so i am alone quite a bit. however i do have support of others like my mom and sister. it would be hard if i didnt. if you look at my pics you can see that babies born with ds arent scary, or different, just beautiful and loving and happy! i wont say that everyone can handle it, its still early so i have much to learn and exp myself. i cant help but think with a nuchal fold that high the probability is pretty high, have the amnio to know for sure.
there are some trisomys that are very scary and i would have terminated because they wouldnt have made it. down syndrome or T21 isnt the case. im not sure how the drs can determine the outcome when pg, all my drs told me you cant determine 21 and how they will be effected till they are older, but there are other trisomies that can be very bad. you will have to do what is best for you and not worry what anyone else thinks. you know your wants and needs and what you can or cant handle, but i have to say that you will be surprised how much you can handle!!
like i said you have to remember, any baby can be difficult and many issues cant be detected by amnio or any other tests. you wont know if you have a child with autism, or adhd, its a wait and see kind of thing. its too bad the father wont give it a chance and be supportive of you. i wish you the best, and if you have any questions there are several moms on mh that have children with down syndrome.
I am so happy you have been strong for you baby and I can tell you will be a wonderful mother. i will pray for your baby but know that even babies that have problems are loved.
If you had a child that got hit by a car when he was 4 playing outside and became disabled you would just be thankful he didn't die and help him everyday to get better and fulfill his potential.
If your perfectly healthy child at 2 was diagnosed with cancer you would do all you can to save his life.
You have a little baby in your belly and he is counting on you to be his strong mommy and fight for his life. He will love in return unconditionally.
You are doing great, I know it is hard and scary and I am proud of you
At the 16th week scan, they should be measuring bones, head size, etc... They'll give you several percentages on how normal they measure. They should also have a good look at the heart and its 4 chambers. Do not hesitate to make sure they measure as much as they can, and request that they take a good look at the heart - I seem to recall that we saw the 4 heart chambers on my baby's heart at this stage.
I would wait until after the scan to maybe do an amnio. CVs and amnios only test for down syndrome (which seems remote in your case because of the good CV), but there are many more syndromes that exist and cannot be easily detected in the womb - some being very minor ones thanksfully. Hopefully you'll know more after the scan.
Good luck, be strong!
Not so keen for the amnio as I was particularly sore for a couple of days after the CVS with cramping. Also don't they test for the same things? If the CVS is so accurate it probably wouldn't be necessary, however for peace of mind (craving) maybe it is worth considering . Shall see what the scan reveals first.
It is wonderful to hear everyone's stories and I appreciate you sharing them. Perhaps we get so wrapt up in our own worlds we forget to stop and think what others go through. Guess that is why I ended up here :-)
The ultrasound for the CVS was done at a different facility to the initial ultrasound. I was hoping when they checked the measurement they would find an error had been made however it was confirmed so hope on the miscalculation front has been discounted.
I know the CVS covered MANY chromosonal conditions so I know I'm clear of the 4 major ones such as Downs, Turners, Patau, Edwards and several others. I also found out I'm having a boy (my parents 8th grandson - no girls!) and got in enormous trouble for finding out with the father but figured if he isn't supporting me then I have the right to go about things my way. (I never found out with my other two boys) He keeps saying if I go ahead and anything is wrong he will never forgive me. (I find myself thinking why on earth did I ever get involved with this person!!!)
The cystic hygroma is quite evident on the ultrasound films. The pics they gave me to take home conveniently obscured it for the most part but I may try a little later to scan and upload some for interests sake. God I hope it's gone or largely diminished on tuesday - which seems to be taking FOREVER to arrive!
There are many very brave women in this forum!! Thank you xo
I am so sorry that you are going through this, especially without your partner and without much support nearby. It is a very hard time to learn someone's true colors, but as hard as this is, it is a gift to realize what he is really like. Try not to beat yourself up -- love is blind and sometimes it takes longer than we think to really see someone objectively. You sound strong, smart, and wise and your son is lucky to have you.
You have a really unique situation (as I am sure your doctor has explained). The fact that you had the CVS at 12 weeks and the fact that it is a boy means that it was accurate (sometimes, when done too late, the CVS picks up the mother's cells and not the fetus', so normal results can be misleading). With a NT measurement of 8.4 - the greatest likelihood was Trisomy 13 or 18 (not downs) or Turner's syndrome. But the CVS tested for those and thank goodness the results were normal (especially for 13 and 18, which are fatal). The CVS tests for all the same things as an Amnio - it checks all of the chromosomes for deletions or duplications. However, it does not test for neural tube defects - you can get a blood test at 16 weeks to determine your "risk" for those and if your risk is high, you can opt for an Amnio then if you wanted. FYI, high NT measurements are not associated with neural tube defects. One of the biggest things they will check at the upcoming scan is his heart.
I understand not wanting to do the amnio after having done the CVS. Hopefully things will look great on the scan and you won't have to make a decision at all. If you want more reassurance, you could do the amnio, but it would be so unlikely for the CVS to have missed a major chromosomal abnormality. (yes, as another poster mentioned, there are lots of things that can go wrong that the CVS and amnio don't test for, but that is true for all pregnancies and I don't think that they are associated with a high NT measurement). What does your doctor think? Just so you know my background - I am not a medical doctor. I am a developmental psychologist and currently work in genetics research (in autism).
Good luck on Tuesday and keep us posted! Stay strong - there is still a good chance that everything is fine!
Finally had the scan yesterday. It was very extensive and staff/doctor were brilliant. The whole process took 2hrs and was very indepth. In broad terms the baby's heart looks okay but without the specialist heart scan in a week or so they can't be sure.The bad news is that the nuchal measurement has not reduced any where near as much as it should have. Usually by now it should have disappeared/reduced dramatically and it most cases it usually does. There is still a 2 week window for it to go down however the doctor was very clear on the fact that even if it does it is most definitely a concern that it is still here now and when the two weeks is up that should not be forgotten and should still be viewed as an indicator that all is not as it should be. Whilst normally by 18wks if it has reduced the risk factor therein reverts to "normal" but because of the size of this one she would not feel confident to say that. Even if the heart is fine there is a massive amount of unknown to gamble with. All other physical attributes looked perfect.
So. . . . currently with the initial measurement of 8.4mm that places us with a maximum 45% chance of a healthy baby (anything over 6.5mm falls into this group). Until the heart scan is done there is a 1 in 5 chance the baby has a heart defect. There are so many syndromes out there the baby can't be tested for antenatally and the doc really did not seem at all confident things would turn out alright - not impossible but not likely.
The pressure of this entire situation has taken its toll and right now I don't think I am prepared to take that risk. I think if the measurement had changed substantially I would have felt more hopeful but right now I'm not feeling good about proceeding.
Should I go ahead and things do not turn out well I live far from the city and medical help that may be required - no family close by - it would negatively impact my two boys having to spend time away - running my own business also that is reliant on me being there with no one else to cover would be a financial disaster - no partner for support - I just don't think I can take that gamble.
I feel absolutely gutted and sickened at the thought of terminating but it looks like that is more than likely the best decision given the circumstances.