Down Syndrome

One of my very good friends got similar results and about a month or so later found out everything was fine. It was a really hard few weeks on them. Sorry you are going through this. I just wanted you to know that those results may change as more tests are done. Their son is about 10 now and as healthy as can be. If you are blessed with a Down Syndrome baby, I have heard you will have more love than you can imagine from that little one and you will feel very blessed to be in their presence.

My understanding is that this test comes back with false positives FREQUENTLY. Your dr. should have told you that. Sigh. Relax, and don't worry until you've seen the specialist. Assume at this point that all is well. Your baby needs you to stay relaxed and focused.

Hi C.,
That blood test is a "screen" which does not diagnose Down's but only tells the doctor (and you) to look more closely to see if it's there. I, personally, didn't have it either time because it is wrong so often. I did have a level 2 ultrasound with my second pregnancy (due to my age) and it was very reassuring. There are several more signs they look for than just short arms and legs that can indicate Down's. The level 2 ultrasound is very in-depth and they measure EVERYTHING (lips, stomach, kidneys, heart chambers, brain parts, etc). As hard as I know it is, try not to get too upset until after your visit with the specialist. The specialist will either make you feel so much better, or give you the choice of having an amniocentesis to know for sure about Down's syndrome. Best of luck. We'll keep you in our prayers.

Hi C.,

I'm sorry that you are so scared about this. I have a son with Down Syndrome and I know it can be very scary. I'd love to talk to you if you need someone who has been through it. Feel free to email me.

I did want to let you know that with my oldest (the one with Down's) his blood test came back normal so there was never much thought put into Down's. But his arms and legs were measuring short through the entire pregnancy. I'm a short woman and his father was fairly short, so again, not much thought. Well then with my daughter, born 2 years later, her blood test came back positive as a high likelihood for Down's but she was born without it. I have refused that blood test with my 3rd and 4th babies since it is obviously unreliable. Please don't panic yet. It is probably a false positive, especially since your babies limbs are longer. Can I ask where you live and who your OB is?? I may know them and be able to tell you what to expect. Good luck and hang in there!! Again, feel free to message me if you have any more questions. I'd love to help any way I can. You can also find me at www.myspace.com/mama_eeyore.

A. K

Those tests are NOT accurate. My OB dr. said he wouldn't even bother with them because they get a false positive more than they get a real positive. The only way to know for sure is one of those amniocentesis, but they can cause premature delivery. I wouldn't risk it. More than likely your baby is fine.

That blood test that you are talking about is just a screening and has false results all the time. If they don't take the blood test withing a certain 2 week period of your pregnancy, the results are bogus. I opted out of that test for my oldest and my youngest. The only reason I took it for my middle child is because we were going to a county hospital and my doctor talked me into it saying that if we knew ahead of time if anything was wrong with the baby then they could have a team of doctors ready for the birth. The test showed that I had a great risk for having a down syndrome baby, however, in the end, the test had just not hit that 2 week window that I talked about earlier and everything was fine with the baby.

All that to say, don't get too worked up about it until after you have the next tests done that are more reliable.

Good luck!

As a former labor and delivery nurse I can tell you that test is wrong A LOT!! Most times when you go see the specialist everything looks normal. I personally did not do the blood test with my 3 pregnancies because of the high rate of false positives and the stress that can cause. Try to have faith that God is taking care of you and your baby, and don't worry yourself sick waiting for the ultrasound. Good luck!

27 years ago at age 23 I had a down syndrome child also. This was our first child and I had no warning, ultrasounds were not routine at that time. He was also born with Hirsch-Sprungs diease, this is not common in downs. We would not trade the time we had with him for anything. I now a have 26 year old daughter who has given us a beautiful grandson and a 23 year son who also has downs. Wesley is healthly and was raised with normal expectations, and everyone tells me we have done a great job. He is very polite, outgoing and loving, we have always felt blessed that God sent us to "Holland" instead of the "England" like everyone else (there is poem that talks about this). We enjoy everything about Wesley and belong to support groups in our area that help alot.

Those screenings are inaccurate. I opted not to have them with both of my girls because I didn't want to go through what you are going through. Wait until the next tests to see if this is or isn't a false positive (it happens more often than not). :-)

I would try not to worry too much at this point. I've heard that those tests can give false positives. I didn't get the triple screen for that reason. I knew I wasn't going to risk the baby with an amnio to find out for sure. I didn't want to worry through the whole pregnancy. Doctors told my sister that her baby would have Downs, she didn't have the amnio, and her baby is now a perfectly healthy 13 year old. I think what the test means is that there is a favorable "chance" but not necessarily that the baby has it. Good Luck.

C.,

Do not freak out yet. Go to the specialist and talk to him/her. The test they usually do is AFP. When that test comes back abnormal, it does not mean that your baby definitely has Down's. It is only one of the indicators. Part of my job description is to do what is called Non-stress tests for pregnant women. Many of them are referred for testing and do not have Down's. Get all the facts first. There are many things that can affect the test, such as being done too soon, too late in the pregnancy. The perinatologist usually does a level II ultrasound that is a little more indepth and can give you complete answers.

Even if the perinatologist gives you an all clear for Down's, please follow your doctors recommendations. If he recommends to do weekly nonstress tests at 28 or 32 weeks, jump at the chance. An elevated AFP has other implications. As I am sure many will tell you, the false positives for Down's are pretty high, but I would rather be safe. Good luck.

I have worked with people who have Developmental Disabilities for over 15 years in both Stillwater and Ponca City. I KNOW Downs can sound scary but people who have Downs are usually very high functioning. Most graduate from High School and can read and write and think for themselves. There are some who have multiple health problems but with the advances in medicine most can be fixed with surgery or treated with drugs.

It is not as bad as it sounds. If your child has this disability you will figure it out. I agree with the others and think you should wait and see when the baby is born. Do some research and that way you can be more ready just in case.

Hi C.,

I went through this exact thing, with my baby, so I know how you feel. The blood work is a screening test. When I had the test done, it showed that there was protein in mine and my baby's blood, which was an indicator of a slight risk of my baby having Down Syndrome. I had a level 2 ultrasound done at 19 weeks. The test looks for what they call "soft markers" to determine if the baby may have DS by measuring the head, legs, arms, etc. After one hour of watching my baby kick, punch, smile, and hiccup, the doctor assured me that my baby was perfect. She is now 9 months old today, and I am happy to say that she is perfectly normal, healthy, and beautiful. :) Don't worry hon. I know how the anxiety feels thinking there may be something wrong with your baby. I was there, and so was my best friend (her baby girl is healthy and normal too). The test is just a screening, and does not mean, in any way, that your baby has Down Syndrome. The only real way they can determine that is through an amniocentesis. That test, however, has a risk of losing your baby. So just breathe. Everything will be okay. And if your baby does have Down Syndrome, I believe that God does not give you more than you can't handle. It will all be alright, you'll see. :)

D.

Oh Honey, I know that you are scared to death. I am sure you and your hubby are feeling like your world is upside down. First, if this test is taken just a week early or late it may have a false positive for several things, but especially downs. Second, Go to this doctor and see what he says. He will do a level 2 ultrasound or more and will most likely suggest an amnio. I personally wouldn't have one because the risk are high and the outcome (confirmation of the downs) wouldn't make a bit of difference to me. Third, There are many babies that test positive for downs during pregnancy and are born without and others who everything said "normal" baby and their babies where born with downs. Here's the reality. This baby may or maynot have downs, they may or maynot have red hair. This baby will have what it has. I know it so scary. I would find a support group in your area for parents of kids with downs. Also, I would find an early intervention preschool for the baby. I live in Tulsa, Ok and it would be worth a trip up here to tour Little Light House. It is a school for children with disabilities. They start at about 18 months up to about age 7. There is no charge to the parents AT ALL. It would help you I think to see these beautiful happy children. Leading productive lives and bringing great joy to their families. I know this isn't what you dreamed about but it is what you have. SO, as my doctor and friend would say, " today is the day you need to put your big girl panties on and get to work!" . Knowledge is power. Get online, get to a book store. You and your husband become experts on downs. So you know what questions to ask, and what to do. This will be ok. This baby will be your beloved no matter what. GOod luck and please let us know what the doctor says.

i'm not sure that those tests are 100% accurate. what was the name of the test? there's a book where you can look up all that information, called Gentle birth, gentle mothering.

let me know the name of the test and i'll look it up and see what i can find.

Hi C.!!

this is very familiar to me. I have a six year old with Down Syndrome. the dr found a heart defect, then did an amnio to confirm DS. If i were you, i would wait until you go see the maternal fetal specialist. what blood work did you have done? was it a quad screen or just the alphabeta protein test? if that is the only blood work that you have had done, then i would wait until further testing. the dr office should not be calling you over the phone telling you that information. my sister in law had the same thing happen when she was pregnant, and they went to the level II ultrasound and her baby is fine. the nurse basically spoke out of turn. you cannot rely on the alphabeta protein tests--there are so many false positives with that test it is unreal--plus it is only giving you what you are at higher risk for--there is no definite there. i just had another baby in October and his neckfold was thicker than they like--so i had a quad screen done, just due to history, and everything came back within normal limits, and I have a healthy baby boy. so, wait until you see the fetal maternal specialist before you start worrying. they cannot truly diagnose down syndrome unless you have had an amnio. when they found the heart defect, they said that this coincides a lot with Down syndrome and they went right into an amnio--but if you choose not to do an amnio, then maybe start with a quad screen. if this information is not making you feel any better--please feel free to contact me either through phone or email.i can go on and on, but if you would rather hear a friendly voice--call me

____@____.com or ###-###-####
take care and dont worry, it will all be alright!! I promise!!

Hi C.,

My heart goes out to you and your husband. News of the sort is not easy to take. If you still have questions I'd make another appointment with the doctor. Write down your questions in advance because you'll forget them once you are there. Better yet, take your Mom along with you and she can take notes just in case you are too stressed to remember everything that is said.

I have a son who is Autistic along with other disorders. We adopted him at birth not knowing about his Autism and would do it again in a heart beat. While we have had many roadblocks there have been many joys.

I have a feeling that once the shock has worn off you'll do just fine. Thank heavens you have such a good relationship with your mother...I'm sure she'll be the rock that you need.

Hugs,
W.

I got the same call with my son and we went for the level 2 ultra sound they found one flag but they siad it wasn't a big deal unless it was paired with another flag. He said we could get an amnio doe but we opted not to. We waited until he was born to find out. They said he looked fine after he was born but I was always wondering if he was or not so we had the doctor take a cell sample from him and that ended up being negative. All that stress and trying to prepare myself for nothing! Try not to worry yourself because everything will be ok either way!

Hi C., Did they get a measurment on his head? And sometimes the tests can be false. I would get more tests. I know how you feel. I had a special needs child 26 years ago and I still will never forget. Down Syndrome babies have an extra chromasome. My baby was missing part of one so he did not have DS. But he was blind and retarted. He has a part time job now so he is doing good. It is alot of work but they are truly special and they show you a whole other way at looking at life. Please let me know what you find out. I have been thru it and I can help you.

A.

From what i've been told, those tests are never 100% accurate. that's why i've never had it done. Also, my niece has down syndrome and she is a wonderful little girl. Her's isn't as severe as some cases, but she is such a sweet heart. My brother and his wife had a difficult time, but there is sooo much help available to parents of down syndrome kids. She was able to go to a place where they worked with her until about age 3 to help her physically and mentally. I know you're scared. i would be, too. But I gotta tell ya, every person with down syndrome I've ever met has been so sweet and loving. They are truly special people. I hope it all goes well for you.

I know this is a shocker for you. A book that will give you some insight and encouragement is called "Extraordinary Kids" by Louise Tucker Jones and Cheri Fuller. Louise has a grown Down syndrome child, and she gives some very practical and helpful advice. She talks you through dealing with anxiety and depression, acceptance, and being an advocate for your special needs child, among other things. I don't think it's in print now, but if you can't find a copy, contact me. I'll send you my spare.

Also, nutrition helps and I will be happy to tell you some "success stories" about improvement in health in special needs kids and how you can get great products at or below cost for your child. And the sooner you start before the child is born, the better!

Contact me if you would like my help in either area.
S. B.
www.susanjordanbrown.com

With my first kid they wanted to do the test but I did not because what god gave me I could handle. The dr wanted me to do it. I read that half the time the results are not accurate. With my second child the dr did not even want to do the test. But remember god is in control. Some things happen that we don't always understand. Try not to let the added stress get to u. Also your emotions are running high right now and with the news that u heard don't let this get a wedge between u and your hubby. Ds kids are really lovable. But find out what blood test u had done and do research on the test to see how accurate is. In the meantime go get a prenatal massage because the stress I are going through is not good on u or the baby and u deserve it. Keep me posted and I will pray that god will give u peace about everything and that u and your hubby will stay strong. If u need anything or have questions please email me directly at ____@____.com

Hi C.,
The bloodwork you had was probably the AFP test. It is VERY common for this test to have a false positive reading, which means that your baby may not have down syndrome. Please try not to worry. The specialist will probably do a level 2 ultrasound, and may recommend others tests (which have risks of their own). Honestly, the blood test that you had has such a high false positive rate, that I wish they would quit doing it. It causes moms to worry needlessly in most cases. If the other tests come back positive, then your baby probably has down syndrome...I wouldn't worry with just this one blood test though.