Maternal & Child Community
risk of down syndrome
About This Community:

This patient support community is for discussions relating to breast feeding, childhood disease, colic, child discipline, immunization, lactation, newborn care, post partum depression, Sudden Infant Death Syndrome (SIDS), and special needs children.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
Blank Blank

risk of down syndrome

Hello..I am hoping to get some advise to ease my mind and worries.
I am 22 weeks.....and my quad screen came back 1 -24,000.
However, I had an ultrasound on 8/24 and they found a calcium deposit on the baby's heart...so they sent me for a Level 2 ultrasound this week, and the doctor said all measurements show a healthy baby. But the only way to be 100% sure the baby does not have Down Syndrome is an Amnio...which I would rather not do.
Any advise?
I just can't seem to stop worrying about the baby!
Related Discussions
21 Comments Post a Comment
Blank
Avatar_f_tn
The risk of Downs goes up with a mother's age -- you didn't mention how old you are.  Also what did the second U/S show regarding the calcium deposit?

It sounds encouraging that the measurements show a healthy baby and since they were specifically following up for a specific reason, it would seem the doctor would have told you if he still thought there was a possibility.

And, yes, amnio is the only definitive way (prenatally) to determine Downs at this point in your pregnancy.  But, my guess is that it would not be worth any risks in your case as things sound positive for you and baby.

BTW, did you also do the first trimester screening (U/S and bloodwork)?
Blank
Avatar_n_tn
I am 33....they didn't mention the calcium deposit during the level 2 ultrasound.
During the first trimester ultrasound nothing was said about the calcium deposit. And all bloodwork came back good.
Blank
158812_tn?1189759426
The calcium deposit in the baby's heart is called an ECHOGENIC FOCUS.  If it is the only marker, and your quad is good, you should certainly relax.  My son has the same marker, and we are at 36weeks. I am 34 years old, and obviously nervous.  I also refused the amnio, and chose to say my prayers instead.  It is what it is.  You'll never stop worrying about the baby.  When it is born, a whole new set of worries begins.  Then when you get through that, you'll worry about preschool, Kindergarten, friendships, behavior, the list goes on and on and on.  Get comfortable with it, since it will never stop.  

Try to relax and enjoy your pregnancy for what it is.  
Blank
Avatar_n_tn
Thanks..I am trying to think positive.....I tend to worry about things too much.
We have a 5 year old son in Kindergarten, and tried for 3 years to get pregnant with this baby.
I guess I am just over thinking this whole thing, but once the doctor says the words "risk of Down Syndrome" how can you earse that from your mind?
Blank
158812_tn?1189759426
It will ease with time.  I know it feels heavy right now, but you will come a long way in the next couple of weeks and months.  To me right now, it seems like old news.  I have come to terms with the fact that no amount of worry will change my outcome.  I have chosen to end the investigation with declining the amnio, and now I must accept the chances of this....there is no choice.  I have worried my fair share, don't get me wrong.  

I chose not to share the information with most people.  I noticed that not talking about it kept me from thinking about it as well.  Typically, I am very open and talk too much about everything.  You just have trust that everything will be ok.  Your quad screen results look fantastic....you have science and facts on your side.  Like I said, it is what it is...hard to take, but it is most likely OKAY.
Blank
Avatar_n_tn
I feel the same way about chosing not to share this information with people. I just don't want to get into explainig it friends and extended family.
I guess I just have to keep praying, and focus on the good and not the unkown.
I will pray for you as well.
Thanks for your help
Blank
175662_tn?1282217256
My niece has Downs so it was never out of our mind when I was pregnant with Lilith or when trying to have another baby.  But remember that no matter what, it sounds like this baby was more than wanted, and would Downs really make that big of a difference in your choices you will or have made?  Things look good, keep up with your doctors, and trust that in this day and age, science has made some huge leaps and bounds.... Lilith is proof of that (after all I was 13 weeks pregnant when they operated on me and removed my right ovary and tube).
Blank
159354_tn?1286371288
My quad test showed I had an elevated risk of Downs Syndrome with my little guy.....I am also 33...I had a 0.4% chance of it being Downs Syndrome but even though they pushed I did not go through with the Amnio.

I did have a level 2 u/s and no markers were shown....then another level 2 u/s at 28 weeks and still no markers for Down's Syndrome.

I'm due in about 5 weeks and I'm trying to stay positive....If my baby does have Down's Syndrome then I will deal as God shows me....there was never a question in my mind whether or not I would continue with the pregnancy so the Amnio didn't matter to me...except I would have a few months to prepare....

Well, I lost 3 babies last year and the 'not' knowing was easier than the fear I had of the Amnio....

Good luck to you....it's scary for any parent to go through..

The way I always saw it was if something happened (God Forbid) to my 'healthy' daughter I have now that would cause her brain damage or something worse....would it matter...no!
So why should it matter with my son.

My uncle was born healthy but this was 70 yrs ago....at age 4 he developed a fever that they could not bring down and suffers brain damage...never grew passed the mental age of 10-12.....things happen....and for my family Down Syndrome was the least of our worries....especially if we could just carry this baby to term.
Blank
175662_tn?1282217256
I refused the quad markers, but had an amnio later to check lung maturity.  The Amnio really wasn't all that bad to be honest.
Blank
193609_tn?1292183893
My quad scan went the other way....I had a very high risk (1 in 24) chance that my baby would have spina bifida...but he was completely healthy at birth. Good Luck!
Blank
Avatar_f_tn
I know how hard the uncertainty is...you expect everything to be perfect, and when something like this happens, it can cause so much more fear! In my case, I apparently wasn't worried enough...it must have seemed like I needed more to worry about or something!

I am 21 w with twins. I had a great result for my NT screen. I was thinking all was going great with my pregnancy. At the 16 w appointment, we found that both twins had cysts on their brains. This can be a soft marker for Downs as well. The doctor scared me into having an amnio (that I really didn't want) by saying that this marker could indicate a high downs risk. He made it seem that the NT results didn't matter any longer and now my risk was huge. I did the amnio then and there.

Went home and discovered that a single soft marker does NOT tell you if your child will have downs, especially with a good NT result. Most children with downs have several to many soft markers and a single marker like the cysts or an echogenic heart is probably just the way your body makes babies and will clear up on their own. There is quite the debate in the medical world over whether they are causing undue fear in countless women over minimal risk of downs by telling them about the markers at all especially in situations such as ours.

I understand that doctors tell us about the problems they see for the off possibility (and by off,, I mean far off) that something could be wrong with a baby. It saves the doctor in the long run against law suits and problems. But, I also think that fear is making many doctors push that amnio when you don't necessarily need to have them.

If you don't want the amnio, you had great NT results, and only one soft marker, more than likely, your baby is FINE. Don't worry about the amnio. Have them recheck you in a few week to make sure the condition clears on its own. I think I heard that most will clear up by around 26 weeks. I would tell you to do the amnio if there were several soft markers or your NT results indicated that there could be a problem. In your situation, that isn't the case.

Don't let this ruin your enjoyment of being pregnant!

I wish you a happy, healthy remainder of your pregnancy! Take care. Stacie
Blank
Avatar_n_tn
Stacie,
Thank you so much for your story and support. Did you get the results back from your Amnio yet?
It's so hard when you try to eat healthy, take you vitamins, I donit drink or smoke....and then a small calcium deposit sends you into a panic!!
Blank
Avatar_n_tn
how many of you had a good quad screen results, but the ultrasound showed a echogenic focus....and went on to have healthy babies??
Blank
Avatar_n_tn
thanks for sharing your story and support...it truly makes me feel better.
how did you stop your mind from worrying about down syndrome?? i just can't seem to do that yet.
Blank
164559_tn?1233711618
Doctors are obligated to tell you all your risks, otherwise, they could be liable if you delivered a downs baby.  Your doctor is being very cautious.

Agree to amnio if it best for you.  Would you carry the baby, knowing the baby had Downs?  If the answer is yes, the amnio is not necessary.  But you have to do what you feel comfortable with.  I just had my last baby 2 weeks ago at 40 and I did not have an amnio.  She is perfect.

One soft marker does not sound like a very strong indicator of downs.  I think your baby is going to be born healthy and whole.

I agree with the above posters, don't let this marker take away your joy in bringing this new life into the world.

Prayers to you for a healthy baby.
Blank
Avatar_f_tn
Yes, I got my results back and both boys are healthy and chromosomally normal.
Blank
Avatar_n_tn
Thank goodness...i am very happy to hear your results....I am still thinking no for amnio on my baby.
I hope and pray that Megan is growing strong and healthy in my belly....however, it is hard to sleep at night....i have dreams of her birth, and the doctors telling me she does have down syndrome.
Blank
Avatar_n_tn
Hi Ladybug, I have your same situation. I am 22 weeks and they found a cardiac focus on one of my twins. They sent me to a L2 US and all else is fine with the babies expect for the focus on baby B. The dr. feels that because i will be 33 at delivery (only be a few weeks) i have a slightly higher risk of DS. However, my OB disagrees, he does not feel that a few weeks into my 33rd year will make a difference. He has offered me an Amnio, but we too declined. I could be risking 2 lives and that is simply not right for me. So, i have been a wreck since that L2 and worry all the time. I have placed it in God's hands and you should do the same. My Dr. feels the baby will be fine and so will yours. I will not have peace until i see both my girls at delivery but i have to remain postive until then. You are in my prayers as well.
Blank
151154_tn?1208134182
Just to ease your mind they saw the same thing on my friends u/s.  She didn't get the amnio and her baby is 100% healthy.  
Blank
Avatar_n_tn
I had a scare for Down Syndrome with my pregnancy also.  They sent me for a Level 2 ultrasound and all measurments showed a healthy baby.  I also took the quad testing and it came back negative for Down Syndrome so that eased my worries.   With my 2nd pregnancy I also had a scare for down syndrome and chose to take the amnio and everything came back normal.     I am currently 34 years old and due in 11 1/2 weeks.   I would not worry too much if your measurements on a Level 2 u/s came back showing a healthy baby.   I would think the specialist would have said something to you if he found something wrong.   Good luck and I will keep you in my prayers.
Blank
Avatar_f_tn
hi I have wrote recently I started off that I was having a 2nd ultrasound for down syndrome my 2nd ultrasound came back normal but i am having a 3rd one and my high blood pressure is high they had me on 24 hour urine as well as my glucose came back elevated and i am having the 3 hour testing I know this pregnancy is hard and rough on me with my daughter 8 years ago i dont remember speaking to the doctor like I a
now but 8ears ago i was not obese with this baby i am very obese if someone has an advise for me on how to maintain my preesure and weight for a better chance of feeling less wanted help me ....
Blank
Post a Comment
To
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
Maternal & Child Community Resources
RSS Expert Activity
469720_tn?1388149949
Blank
Abdominal Aortic Aneurysm-treatable... Blank
Oct 04 by Lee Kirksey, MDBlank
242532_tn?1269553979
Blank
The 3 Essentials to Ending Emotiona...
Sep 18 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Control Emotional Eating with this ...
Sep 04 by Roger Gould, M.D.Blank
Top Children's Health Answerers
134578_tn?1404951303
Blank
AnnieBrooke
OR
13167_tn?1327197724
Blank
RockRose
Austin, TX
4851940_tn?1385441629
Blank
jemma116
United Kingdom
4268628_tn?1375044776
Blank
Flickan
Monroe, WA
Avatar_f_tn
Blank
gyspy09
PA
Avatar_f_tn
Blank
MrsVirginia_001