63 answers

First Trimester Screening for down Syndrome

HEllo, i had my first trimester screening for down syndrome last week, my ultrasound was great. The Dr. called and said my blood work was positive and showed a great/high risk of a DS child, even though my ultrasound was great. My DS risk ratio was 1/9. I am only 29, have no other DS child, and no (known) family history. I just can't understand how i am at such high risk given my age. I go in next wednesday for the amniocentesis for a 100% answer on whether or not my baby has DS or if not. The amnio has a (low) risk of miscarriage 1/300 which also worries me. I am stressing so much and so scared. Anyone else been through this?? By the way, termination of pregnancy is not an option for us.

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So What Happened?™

Thank you all who had responded with all your advice, comments, and opinions. I did have the amnio and got the results this morning. The baby is 100% healthy and a little boy. We are relieved b/c we dont have to worry about future financial stress or emotional stress if the baby needed surgeries. And yes, to you all, DS babies are precious gifts from god and i was ready to be the reciever of that gift. I use to work with special needs children for a few years before being a SAHM, so i thought it was just my calling. Thank you all again for the comforting comments. To those who have special needs children, thank you for reassuring me of the wonderful life they can give. God Bless you all!

Featured Answers

I'm so glad you researched the risks of the amnios! The percent and risk of spontaneous abortion is too high imo to take if it were me. But if you feel comfortable with those odds and really want to know (which I do understand) then go for it. This is why I rejected all testing, I could never make such decisions. I'm really sorry you have to decide this and now have to go through the rest of the pregnancy wondering all the "ifs" if you don't get the amnio. Just remember that even though it literally feels like forever that you'll be pregnant, it really does go by fast. I really hope you can get the answers you need and that you have a wonderful pregnancy and a healthy baby.

Based on what my Perinatoloigst told me...age is no longer the key factor anymore. They used to only screen women 35+, but they have determined that the risk is still high even for those younger than 35.

Keep in mind that the numbers are just an indicator and not a guaranty. There are women who are told they have a high chance, but the baby comes out without DS.

I hope everything will work out for you. Try to take it easy and get some rest. I hope you will get some great news!

More Answers

M., I am mom to a 20 yr old with Down Syndrome. I went through a similar process ( I was 33 when he was born) and my doc convinced me not to do the amnio. I'm glad I didn't because I had a great pregnancy. The truth is that more babies with DS are born to younger mothers because the # of moms having babies after 35 is lower. If your baby does have DS you will have the advantage of months of mental preparation and time to research programs, etc. My son was the BEST baby, and is now a sweet young man that is loved by many. He works part-time at Whataburger and even got a standing ovation when he walked across the stage for graduation. I don't want to minimize the challenges but he is truly a special gift! Let me know if you want to talk.

2 moms found this helpful

I only read a few of the responses, but I wanted to throw in my 2 cents. The question you should ask is, if your baby is DS, will that change things? If not, why risk the amnio? I have a dear friend who lost her 2nd baby 2 weeks after amnio. The risks are too high-- that is, if you will love & care for your baby no matter who or what you get. Parenthood is a gamble. Even the most perfect child can have problems as an adult. Decide if it really matters to you before you have the amnio. Good luck to you. And congrats on your pregnancy. You & your sweet child are in my prayers.

1 mom found this helpful

I had an amnio after seeing abnormalities on the ultrasound (I was 27). I was so worried about having it done & it turned out to be no big deal (for me!) IT was done by our perinatalist who does lots - I think I'd insist on that & not the regular ob who only does them once in a while. But, it didn't really hurt, it was quick (although it took 2 visits a few hours apart as the baby was moving too much the first time).
Getting the results allowed us to be prepared for what was coming & to change hospitals so that we had the most amount of care possible available to us.
I would do that again in a heartbeat if there was a reason. (I have had a healthy pregnancy since & did not have one done)
Feel free to message me if you want more details-good luck to you & keep thinking positively about your beautiful baby :)

1 mom found this helpful

Those tests have been shown to produce false positives, which usually makes moms worry for no reason. It is completely my opinion and what I chose to do with my pregnancy, but I say cancel the amnio. If your baby does have DS, will it make any difference to you? I chose not to know, because wether he was born with it or without it, he is my baby and I will love him no matter what. And he was born 100% healthy and I didn't stress out over something the whole pregnancy that might not even be accurate. If you want to read up on DS, to see how to handle it if your baby is born with it, then go prepare yourself, but all those tests usually stress a mom out more than they help. Again, completely my opinion! Also, my aunt has down syndrome and wasn't given much of a good outlook on life when she was born(in the 1950's) and she has been self sufficient, living on her own, and employed through a group that helps find mentally disabled people jobs in their community. She has not only succeeded in life, she has flourished!She was my inspiration when I was worried about my baby boy being born with DS. She is living proof that disabilities do not have to control the direction of your life. Good luck to you and congrats on your expected arrival!

1 mom found this helpful

It might even be too late to respond but I had a pretty harsh experience with this situation so I thought I would share. When I was 13 weeks pregnant, after my 2nd sono, they told me they had seen a dark spot on the bottom of the baby's skull. They said it could have been 1 of 3 things, a small cyst, a sign of down syndrom or the worse case, a condition called encephalocele (where the brain protrudes through a hole in the skull) Basically those were our options and we were scared. They wanted me to get a few different tests done just to make sure it wasn't the worse case because then they would have had to do surgery as soon as the baby was born and most likely would not survive. One of those tests was the amnio but I honestly didn't want to go through that for all the horror stories. My moms friend had it done, they said it was possitive the baby did have DS. Her husband and her fought over this for months because he didn't feel they could care for the baby the way they needed to and turns out once the baby was born he had absolutly NO problems and it really showed her his true colors that he was willing to give up on their baby so easily. I just didn't want to worry myself during my pregnancy for no reason, you know? You just have to prepare yourself for anything so no matter what you can be prepared to do whatever you have to do to care for your baby. I wanted them to do one more sono before I got the test just to see if anything had changed so they did and my baby was perfectly fine! I went from believing there was a chance I might lose my baby to no worries at all. Now my baby boy is a perfectly healthy 16 mo old with a big personality! :) Also, just remember that God won't give you something you can't handle and if your baby does infact have DS, God knows that there are certain people in this world that are meant to have children with special needs, they are very special parents. God Bless you and your family!

1 mom found this helpful

I was 38 when I had my daughter. I had lots of screenings and sonograms because of my age. I came back with high risk of Downs and elected to have the amnio.

We did the amnio for 3 reasons:
1. Worry factor - I needed to know so that I could get on with enjoying my pregnancy.
2. If we found that we were going to be the parents of a special needs child... we wanted the chance to be as informed as possible when the baby was born.
3. Since there are risks for several kinds of birth defects with Downs, our OB suggested that it would be good to have the right specialists in the room when the baby was born.


The screening is always wrong! Almost everyone shows positive and once amnio is done, a sigh of relief. Don't stress. If it's important enough to you to get the amnio, do. Otherwise wait until you are further along and it is ruled in/out by ultrasound

I declined to test on both my pregnancies, because the percentage of accuracy was not high enough for me.

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