Positive first trimester screen

Question

Hi, I am 34 and 12 weeks pregnant. I had the first trimester screen done and my results came back 1/42 for down's syndrome. My genetic counselor said the results should be around 1/200 so I have a postive screen. Now I am faced with the tough decision to have an Amnio or not? There is a part of me that needs to know for sure and there is also part of me that feels like, is it really worth the risk of miscarriage? Although it may be a small risk, it is possible. My other thoughts are to wait for the ultrasound at 18-20 weeks and look for soft markers and then I could still have an Amnio if I wanted. I am trying to think positive and that the 1/42 is less than a 3% chance the baby has downs. I feel like I can't stop thinking about this until I come up with a plan, anyone have any similiar experiences?

Kristen26 · Answer

Another update, I got my final Amnio results yesterday. ALL CLEAR!!!! Baby has all normal chromosomes!!! I am excited to move forward and enjoy this pregnancy!!!

Linny5511 · Answer

Congratulations on your good news!!

buggie216 · Answer

Yay!! Congrats :)

Kristen26 · Answer

Update!!! I had the Amnio done and today I got back the prelim results. No downs syndrome!!! We are having a girl!!! I am so relieved and happy, I cried as soon as I hung up the phone. Finally some happy tears!!!

MamaBear0612 · Answer

I chose not to have the bloodwork done, but they did find a soft marker at my 18 week scan. It definitely makes you question a lot, but in the end I chose not to do the amnio because I wasn't willing to risk her, and I knew however she came out, she was mine and I'd love her and care for her...no terminations for me, I knew that from the beginning.

The soft marker disappeared on subsequent ultrasounds, and she's considered cleared from it. I think it does depend on what your plans are with the information you get from the amnio (are you okay with abortion?), as well as if you do consider it too much of a risk. My OB says that except for cases of very mild DS, they can pretty much see other things via ultrasound. Don't panic though, a lot of blood tests and a lot of soft markers are false positives...in previous generations women wouldn't have even been aware, and a lot of women who test positive go on to have healthy babies.

Jennymum2b · Answer

Same thing happened to me and I know how you're feeling! Mine came bk at 1/52 chance of downs or something similar. I decided to have a cvs done, which I think is like the amino? they take samples of the fluid around the baby to test. And there was a 1% chance of misscarriage, but I felt like I needed to do it, because theres no telling how affected the child wud be if there was somethin wrong and I wouldn't personally be able to cope with something like that. So if that was the case, id rather of found out sooner than wait for the scan at 20 weeks where it wud be harder to 
terminate. I had to wait about a week for the results to come bk but all came back clear! And got to find out the sex early at 15 weeks. So glad I did it, I was just going to leave it and hope things wud be ok, now my minds at rest.

buggie216 · Answer

What were the Nuchal measurments??

stacey10 · Answer

It really depends on what you would do, if you could/would keep the baby or not, if your going to keep the baby no matter what the outcome I would wait until the  18wk mark, if for your own personal reasons it the other way, I would go the earlier route as it can be less stressful if the outcome isnt so good, good luck

Kristen26 · Answer

We did have the nuchal ultrasound and the blood test, I also met with a genetic counselor. Sorry for the confusion, they are not making me wait for the 2nd trimester ultrasound, but I am thinking of waiting until then for more answers.

buggie216 · Answer

Are they going to do the Nuchal sono btwn 11w-14w?? Why are they making you wait until 18w-20w?? Usually they do the sono and blood at the same time...i would ask about that!!

firsttimer1112 · Answer

I've just recently been through this. I'm 32 and chances were 1 in 100. We decided to have the amnio, on the basis that even if the soft markers are ok there may still be a chance of there being something wrong. We wanted to know for sure for a number of reasons the main being what would happen if when we both passed away, would the child end up in the care system? Due to complications I had two amnios a week apart the second at just under 17 weeks. Although its not a pleasent experience we where thrilled to find out three days later that everything was fine. The baby is strong and healthy and I'm now 20 weeks 1 day. It also means that they will now class my pregnancy as low risk and we can follow our original birth plan. If you have any questions please feel free to inbox me and I hope everything goes well for you whatever you decide x

lilbit_17 · Answer

It is a very tough decision to make. I personally wouldn't do it just for the fact that if it were me, id keep the baby regardless of having ds or not. Hold out for the 18-20 week scan and that should give you the answers you need. Just try to keep positive! I hope all turns out well for you and your baby :)

Jennyjoelogan · Answer

I havent had this experience but i would say wait for your 18 weeks ultrasound. Dont risk it with the amnio right now. Good Luck and always do whats best for your child.

RippedonScotch · Answer

mine came back with positive marks from the blood tests. but that combined with my u/s measurements were still 1/810. There are lots of people that have positive markers but there is nothing wrong with the baby. If you feel like you need to know though get the amnio done. I know my girlfriend did and it came back clear but she is still glad that she did it.

louisekirby · Answer

im so sorry this is happing to you. in my opinion i would wait till the 18-20week scan and the decide if u want to get the amnio done. i wish u all the best x