1:48 Risk for down Syndrome-should I Be Worried?

Updated on January 19, 2014
B.M. asks from La Joya, TX
27 answers

Hello!
I am currently 16 weeks pregnant.
On Thursday I received the news from my dr that I tested screen positive for down syndrome. She told me my ratio was 1:48.
I am currently 27; will give birth at age 28. I have a 10 month old who was born with no complications and is a healthy boy.
The dr did a sonogram at her office and said baby seemed fine.
I was referred to get a Level II Ultrasound but my appt is 1 month away.

I am very stressed and worried. I know it is only a 2% chance but I just cannot take my mind off of it. My husband says not to worry but I am just thinking about it. Any comments or suggestions will be greatly appreciated on anyone who went through similiar experience? Are odds in my favor?

Thank you all for your messages so far!
Have been trying to keep positive since level 2 ultrasound is on 2/19.

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J.C.

answers from Philadelphia on

You have a 98% chance of having a healthy baby. I would take those odds!!

Re:that screening...I have many friends and family members that had an increased risk. Everyone of them had a healthy baby. I didn't have the test because I knew too many people that were scared to death because of that test.

Try to relax and best of luck!!

4 moms found this helpful
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R.N.

answers from Houston on

My blood tests came back with a 1:40 chance of downs with my 3rd child. I opted not to do the amino b/c I knew we wouldn't terminate regardless. I did have the level 2 ultrasound and must say that I felt tremendously better after everything looked great at that appointment--no markers whatsoever. My daughter was born fine. Hopefully the same will be true for you!

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L.C.

answers from Los Angeles on

Ugh! This is why I opted out of that screening for every one of my pregnancies. I have had many friends who got the screening and tested positive for Downs Syndrome. None of them had Downs Syndrome babies, but they will never forget the anxiety it caused to have a positive screening.

So sorry you're going through this. I hope you can get some more definitive answers soon. I would probably go insane waiting for my Level II ultrasound. Good luck to you!

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N.G.

answers from Dallas on

This is exactly why I do NOT get those blood screens during my pregnancies. The positives are almost always false.

Worrying this way is not good for your baby, and 98% chance that your child is absolutely fine and perfect.

Deep breaths, Mom. You'll get through this.

5 moms found this helpful
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E.T.

answers from Rochester on

I was told I had a similar chance with our daughter. The genetics counselor that we saw put in perspective by saying if I had 48 babies, 1 of them MIGHT have Down Syndrome. My ultrasounds always looked OK. It was only the blood work that showed an elevated risk.

Was I still scared? Yes. Did I still worry? Yes. Did it change how excited I was for our baby? No. Did it change how I prepared for our baby? Maybe. I looked for a daycare that would take a special needs baby. I did reread some books about Down Syndrome that I had read back when I was working with kids with Down Syndrome. My husband reviewed our insurance policy. Did I pray more than usual? Yes, but it wasn't necessarily a prayer that my baby would not have Down Syndrome. It was more of a "help me trust you" prayer and a "prepare me for whatever comes" prayer. It was a "help me adjust my dreams for my child" prayer.

Our daughter was born without Down Syndrome. It was the first thing I wanted to know. I was relieved and thankful. But even if she had been born with Down Syndrome, I can't imagine that I would have failed to fall in love with her the minute I saw her.

I have worked with people of all ages who have Down Syndrome. Yes, there are challenges and extra health concerns. But I have several friends who have had "normal" babies who have dealt with extra health concerns. And all babies come with challenges. They are just different ones. Yes, school is harder for kids with Down Syndrome. But I work with many "normal" kids who struggle a lot in school.

It is OK to be worried. It is OK to hope that the screening is wrong. But, don't let it consume you the rest of your pregnancy. Enjoy preparing for your new little one. Just like you did for your first baby. Look forward to that new baby smell and cuddles with a sleeping baby that give you the excuse to sit in the rocker all day. Honestly, no matter what happens, helping your older baby adjust to a new baby in the house will probably be the biggest challenge!

I highly recommend the book Road Map to Holland by Emily Perl Kingsley. It is based on an essay she wrote called "Welcome to Holland" about her experience with having a baby with Down Syndrome. It is an honest book about how she felt. But also an uplifting book.

I'll be thinking about you. Take care and know that it will be OK.

4 moms found this helpful
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B.H.

answers from Los Angeles on

So I have a question for you...will worrying change the outcome? Can worrying change if your child has Down Syndrome or not?

I heard a great quote the other day, it says: Worry does not empty tomorrow of its sorrow, it empties today of its strength.

B.

4 moms found this helpful
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G.♣.

answers from Springfield on

If there's a 2% chance your baby will have DS, then that means there's a 98% chance your baby won't have DS!

I didn't receive a positive result on any of the screenings, but both of my boys had some complications. Actually, after talking to many moms, just about everyone I know had something they had to deal with at birth.

If your doctor is recommending a Level II Ultrasound, that's fine. Look at it as an opportunity for an extra ultrasound and an extra early peek at baby. But anything with a 2% chance of happening shouldn't even be on your radar.

3 moms found this helpful
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P.K.

answers from New York on

My DIL was given a 1 in 10 chance. She had the maternitee21(spelling) which will soon replace amnio. It is a simple blood test that picks up the baby's chromosones. You can have it back in 8 days. Sono showed a nuchal fold. Went back next week and it was gone. Blood test showed a normal healthy baby girl. Due any second. I would ask doc about that test.
It's like 98% accurate. No amnio needed then if you were thinking about it. My son and DIL were not going to do an amnio. Good luck. @et me know how you make out.

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S.R.

answers from Los Angeles on

Sorry this story is a little long.

I am 34 weeks pregnant. At the mid-trimester ultrasound my baby was seen to have "mild pyelectis" (sp?) which is basically extra fluid in a kidney or two. I went back for a second ultrasound a month later and all was back to normal with the kidney fluid so no worry there. BUT at the first US they told me that it was one of the "soft markers" for Downs and my chances of that were now tripled. I didn't even know what my current odds were so the Dr. looked at the age chart and told me that at age 36 the odds were 1:270, so tripling that I am now down to 1:90.

I still didn't have the blood test or whatever further measures to rule it out. I didn't want to be further hyped up for no reason (like they rule it down to odds 1:48, and now I am even more stressed/worried, and all turns out to be well in the end anyway). I never did that testing with my other two kids either. But I know once they start putting the odds in your face and bringing that question into your mind it is hard to get it out.

For me, I figure I will find out in the end what my kid is like. Whether that means Downs syndrome, autism spectrum disorders, health problem, mental disorder... my child is a gift from God and I will walk whatever parenting path He wants me to walk. That's just me though. I know many other people who would prefer as much advance notice as possible to wrap their heads around what's coming. Unless it's something that would require immediate medical intervention at the birth, I am ok with not knowing in advance. The reality is you are never truly in the clear of what you are getting as a parent. I've got two healthy kids right now but who knows what's to come in the form of challenges for them, that will try my meddle as a parent.

Hope this puts you at ease a bit. I have noticed in the last 7 years since my first baby, they have gotten increasingly vigilant with pre-natal care. I went through a lot of extra tests this time around for something that came up with measurements in my babies brain (not even seen at the first US, only noticed when I went back for the 2nd one about the kidney issues that turned out to be fine). After several more Ultrasounds by further specialists and an MRI, I am back to square 1. baby is looking pretty good, all is well in that particular department. So I just think they overzealous in this day and age. But that's a good thing I suppose, the more care and monitoring the better.

Good luck, I'm with your husband, don't waste time worrying on a 2% chance. If you do you might as well worry about the other 3000 chances of things that can go wrong with a human life. If we did that we wouldn't enjoy pregnancy or parenthood at all. And that would be sad :(

3 moms found this helpful

J.S.

answers from Hartford on

Very low risk, I mean honestly... 2%. The test is notorious for giving false positives. The majority of positives that the test gives are false positives. That wouldn't stress me out or worry me for more than half a second. I wouldn't even opt for the level 2 U/S if it were me.

And again... 2%. That's barely worth a thought.

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A.L.

answers from Seattle on

I would suggest that you sit down with your husband and talk about a worst case scenario. What would you do if your baby was diagnosed with Down syndrome? If you are planning to continue the pregnancy no matter what, there is no reason for any other diagnostics other than ultrasound. Sure, you won't know for sure whether baby has Downs until he or she is born, but with a high level sonogram later in pregnancy your doctor can assess if baby will have any of the common problems that children with trisomy 21 often have (heart defects is a big one) and prepare a treatment plan for after birth.

If you want to know for sure for your own peace of mind or because you would consider terminating the pregnancy, you have options. You can ask for an amnio, which carries a small risk of miscarriage but gives very reliable results. Or you can ask for one of the new tests that use cell free fetal DNA from the mother's blood. These are non-invasive (only a blood draw for you), fairly reliable with a low false positive rate but they are expensive and not every insurance company offers them. Brand names include MaterniT21, Harmony, Verifi and I believe there is one more, which I have forgotten right now. This tests can be done starting at 10 weeks of pregnancy, so you could get it done right now and have a result in 1-2 weeks.

It's a completely personal decision if you want to wait or opt to get more diagnostics done now. Talk to your spouse, your doctor and your insurance company and decide what's best for you.

Good luck.

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J.S.

answers from Austin on

I would not stress and worry about it as it is not healthy for you or the baby. What I did was research down syndrome so that I would feel more prepared if it were to happen. While I did my research I found this story: http://www.kellehampton.com/2010/01/nella-cordelia-birth-...

The story made me realize that either way it wouldn't matter.

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M.B.

answers from Colorado Springs on

My son was also at risk for down syndrome. I opted to have an amnio - not because I would terminate if he did have downs, but because I am a person who needs to know so I can plan/prepare - not knowing would've affected my health and possibly the babies. Amnio is perfectly safe. I had one and it did not hurt at all. If you have a good perinatologist doing it, the odds are less than 1 in 400 for miscarriage. The Dr I saw said that he had never had a baby die from miscarriage caused by amnio, and he had been doing them for YEARS. Best wishes. FYI My son DID NOT end up having DS.

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D.C.

answers from College Station on

At your age, the odds are more in your favor than someone at 48-yr-old or 50-yr-old.

I like what MomofThree B. says.

Honestly, I don't know why the doctors ask for these kinds of tests, especially when the patient (like me) would not choose an abortion anyway.

If you want to consider having an abortion, then ask, ask, ask. What are the long-term affects, etc.

From your self-description, I would notch this up to your hormones. You have yourself pretty worked up. Having a DS baby is not the worse thing that could happen. God bless you and your family!

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F.B.

answers from New York on

Odds are in your favor. It's only a 2% chance. Your worry does nothing to improve your odds, it just adds to your stress. If you are one of those people who is prepared to love whatever baby comes their way, then let go of your fears and worries. If the possibility of a DS child is too much for you and your family to bear, look into further testing and consider termination if it's right for you.

Best,
F. B.

1 mom found this helpful

J.O.

answers from Boise on

I had the same results twice, and have two healthy children.

With my 8th child I refused the screening, after some research I think it does more harm then good. In the majority of cases the false positives outweigh the actual positives.

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M.H.

answers from Chicago on

First of all Worry will not change the outcome. Second of all, My girlfriends brother & wife was told that their child had DS.. Well guess what! She did not . They almost condidered terminating the pregnancy and she was perfrectly normal.

Yep, DS and any other Birth condition is challenging, but those kids are soo worth it.

Good luck.

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A.J.

answers from Williamsport on

My tests showed odds way worse than that. For my third child I refused all the tests since they just cause drama. Both amnios for my "positive test at high risk for downs" babies proved they did not have it. The amnios costed a fortune out of pocket since we were uninsured but I was so scared and worried I had them done. Also the amnio for my second was a train wreck. The doctor had to stab me three times to get fluids and it hurt like h___. Not for number three. Nope, they can take their (advanced maternal age) tests and shove them (I had first child at 35). Positive tests are all too common.

What you keep telling yourself is the truth: The odds are WAY in your favor. Get an amnio if you want to know for sure. Even the level 2 ultrasound isn't going to ease your mind that much if you have crackpot nurses like mine saying things like, "Well, the measurements look OK, BUT your numbers are still severely at risk..." They were basically like, "Don't be reassured by this totally normal looking ultrasound at all, lady".

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S.H.

answers from Honolulu on

There are screening tests, and there are diagnostic tests.
What kind of test, did you have? Because it can make a difference.
The accuracy of amniocentesis is about 99.4%, for example.
And each test, can check for a variety of things.
And yes, there are blood tests, which may be replacing the Amnio.
Inquire about that.

And with any testing/screening, the couple/woman usually sees a Genetics Counselor as well.
Did you do that?
Ask the Specialist.

A pregnant Mom worries.
That just is. With any testing.

I had the Amnio, with both my pregnancies.
And it was fine.

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E.M.

answers from Phoenix on

I am so sorry you have to go through this stress! I had something similar with my second- there were small cysts in his brain on the 18 week ultrasound, which can be a "soft indicator" for a very serious condition called Trisomy 18 (usually fatal to baby) and also Trisomy 21, aka Down's. I was so incredibly stressed waiting for that second ultrasound. One thing that you should know going in top the ultrasound- they will not tell you that everything is fine. They may tell you that there are no indicators, etc, but they may also tell you that even with no indicators, there is about a 1% chance of a chromosomal abnormality.
At this moment, the odds are still excellent that your baby wil be born with a standard set of chromosomes. If they find no markers on the next ultrasound, the odds are even higher.
For me, knowing that there was a tiny chance that I could only know my baby for a few months, I tried to appreciate and enjoy my time until that second appointment. It was really, really hard, but that was the only thing that kept me sane.
I truly feel for you, sending lots of hugs. I will tell you that I did a ton of research, and I found story after story after story of people with false positives, so much stress, and a typical baby. Early tests are such a mixed blessing!

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J.B.

answers from New Orleans on

Nope. Don't worry, likely there is absolutely nothing out of the ordinary. Worrying is just going to rob you of the joy in your pregnancy. These blood tests for down's just highlight certain markers that could show a possibility for down's. You have a much higher chance for no down's as other's have mentioned. Just take a breath, be good to yourself, it will all be ok. Hang in there!

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J.G.

answers from Chicago on

There is a blood test that is diagnostic. Ask to be given it. It should cost around 200. I think it's called maternity21. Insurance doesn't cover it but the company advertises you won't pay more than 200, at least they did with my last pregnancy. It is diagnostic, so it might alleviate some fears.

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S.H.

answers from Santa Barbara on

You are right that it is only a 2% chance. I do know of others with high risk results and the babies are fine (when the ultrasound did not have any markers).

1 mom found this helpful

K.J.

answers from New Orleans on

My test came back positive for down syndrome with my last child. My doctor told me not to worried because he seen a lot of false- positive test. This was the first time getting this test done. With my older 3 they never asked about getting it done. Of course I was worried. I got of the doctor's office and started crying. I told my husband it was my fault that something was wrong with my child etc. They sent my to a high risk doctor to get a ultra sound done. They did a lot of measuring of the baby. The doctor said everything look good and didn't see anything that would worried him.We found out it was a boy. My husband and I kept it to ourselves about the downs. I did tell my mom about it. We figured to TRY to enjoyed the rest of the pregnancy and not worried about it. Few months later we was sent to the high risk doctor again. Everything look good. The tech said he looks to have long legs and arms and look big. The day of the his birth he came out perfectly healthy.The head nurse came in the room and told me he was perfectly healthy. He was a healthy 8 lbs 1 oz and 21 inches long baby. No down syndrome. I'm not going to lie I worried a lot. I cry! I remember my then 6 year old daughter asked me what he was going to look like and I cryed. Like my husband and I said if its meant to be then its meant to be. We know God doesn't give us more than we can handle. Try not to worried!! Congrats!!! :)

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L.O.

answers from Detroit on

you can have an amnio at 16 weeks. that is the only real test for downs.

I have had an amnio and it hurts but it is quick.

If you would not carry a downs baby to term.. I suggest the amnio asap.. and not waiting a month for an ultrasound whichis not a great test to detect downs.

L.M.

answers from Dallas on

Easier said that done, but try not to worry about it. I had both of my children at an advanced age. My son when I was 38 and my daughter when I was 40. Because of my age, I had a very high chance of having a baby with Downs, but both of them do not have it. They had no issues what so ever. If it will made you feel better, just prepare yourself with knowledge. I did do my research and talked to someone at work that has a special needs child, just in case. God bless

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J.W.

answers from Detroit on

Well, are the odds in your favor? Yes. You have a 98% chance that your child will not have down syndrome.

With my first my test came back at a 1 in 25 chance, or 4%. 96% that he wouldn't. For me it did not matter. I was not going to terminate my pregnancy. I opted to have the second ultrasound but did NOT have an amnio. I know the risks of the amnio are very small, but to me any extra risk just to satisfy my curiosity was too much. It was not going to change anything.

I did use the information to inform myself and prepare myself. I learned a lot. Some things made me worry more, some less, but all in all I felt ready to handle anything.

My son did not end up having downs. For my daughter I did not even have the test. I figured I already knew the information and by then I was "advanced maternal age" so chances were it would show me at high risk anyway. She did not have it either.

One thing is I get so bugged when people say things like 'those tests are never right" or "it was a false positive". It is a percentage of your risk. Nothing more. It is not saying 100%. It is not saying 0%. It is like the lottery. There is a small chance that you might hit it, most likely not, but of course some people do.

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