Testing for down Syndrome

Updated on April 23, 2009
S.B. asks from Carmel, IN
24 answers

My 35 year old sister has a beautiful, healthy 4 year old girl and is currently 9 weeks pregnant. However, prior to this pregnancy, she was pregnant 2 times and lost both babies by the time she was 8 weeks into the pregnancy. The first time, she went to the ultrasound and they did not find a heartbeat. The 2nd time, same scenario, and they chose to do some testing to figure out what was going wrong. The test came back saying the baby had 3 extra chromosomes. Understandably so, she is extremely nervous about her current pregnancy for a couple reasons. One, hoping this baby makes it, and two whether the baby will be healthy. Because of her age (35) and her previous pregnancies, there is a much higher chance the baby will be born with down syndrome. She is questioning whether to get the prenatal test done to determine this. Even though it would not change anything, she is thinking that it will either put her mind at ease or prepare her for what is to come. Has anyone else gone thru something like this? Any advice on the test itself? Pro's and Con's. Any information will be helpful. I am trying to be supportive and encouraging to her but I don't really have any facts or experience with this issue. Thanks for your time!

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S.S.

answers from South Bend on

S.,

I have been through this several times......With my youngest child I had a triple test done and it put my mind at ease. I always refused to get an amnio but I was willing to get the triple test....it is just drawing blood. My daughter was born healthy.

My son, middle child, had 18 chrosomones....trisomy 18. I did not know this when he was born and he made it to term. I did have a c-section because my previous child was born via c-section. He passed away the same day he was born.

I hope this helps.

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J.C.

answers from Fort Wayne on

I think if it were me, I would want to know. My mom was 37 when she had my little sister and even though she knew it wouldn't make a difference, she had the testing done. It's just good to not go through the worries everyday, and if the baby happens to have down syndrome, like you said, she can be prepared for that and stop worrying about it. I would want to know so I could research and get myself totally educated for my baby. I know there can be risks, but there can be risks with anything, and back then when my mom had my sister, which was almost 16 years ago, it wasn't common for women to have kids in their mid to late thirties, so it was actually routine to have the test done if you were past a certain age. That would make me realize the risks are very minimal.

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M.H.

answers from Cincinnati on

Hi S.,

I too was at high risk for a child with downs. My huband has a cousin with downs, I was 39 yrs old when I got pregnant, and I too had a miscarriage a few years before. The told me they would do an ultra sound with a specialist to check for markers on the body (ie. the bridge of the nose, the neck, and the spine), which would tell us to a 75%+ certainty whether our baby had downs(I think it was 75%). They also said we could do an amnio, which would give us 100% certainty, but the risk factor in that was the possibility of a miscarriage. Since it took me 4 years to get pregnant, there was no way I was risking a miscarriage just to ease my mind. So my husband and I just read up on the syndrome as best we could, so we would be a little prepared if that was the case. The US didn't show any of the markers, so we were pretty confident that she wouldn't have DS. And, as it turned out, she didn't. Since your sister has been through so much, my advice would be to read up on DS, have the US with the specialist, and leave it at that...I would hate for her to have the amnio, then miscarry again...Good luck to her!

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L.O.

answers from Terre Haute on

If it were me I would just try to relax and enjoy the pregnancy. When I was pregnant with my son they did a bunch of test because the ultrasounds was showing my son had some kidney issues. They checked for chromosomes issues and said he was fine with his chromosomes WRONG in fact he has a VERY rare undiagnosed marker chromosome disorder. I had a feeling the whole pregnancy that there was more wrong with him then what all the test were showing and I was right. I feel since you can't change the outcome of what the health of the child is going to be so you might as well just try to be as calm as you can and enjoy the pregnancy as much as you can. Put the worries in Gods hands and pray and try not to stress to much ( I know easier said then done ) By all means have all the routine test done but keep in mind some test can cause your sister to loose the baby. If it were my sister I would just talk to her everyday and pray with her everyday and hope for the best. Please keep us informed with the pregnancy and best of luck to her and the new baby to be.

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S.C.

answers from Evansville on

When I was pregnant with our first child I opted out of the Alpha Fetal Protein testing that would give early indication of an increased risk for Down Syndrome (among other things). I knew it wouldn't change anything. We were having (and loving) that baby no matter what.

When it came time for our second, I had the test done because of new developments in prenatal surgeries (for spinabifida).

When I was 28 years old & 28 weeks pregnant with our third child, we were told he was at an increased risk for Down Syndrome. This was during an ultrasound, our AFP tests had come back normal. I had always said I'd never have an amneocentisis done because there was a risk of pre-term delivery & we would NEVER consider abortion. But faced with this as a reality, I couldn't wait 12 weeks to find out what we were dealing with. I had the amneo done so I could prepare myself before he was born & so we could prepare our two older children (and they told us the risk for pre-term delivery was VERY low).

In the end, it was the best decision I could have made. We had three days to worry instead of 12 weeks. The baby was fine. No Downs. It all seems like a bad dream now.

That's my experience. I pray all is well with your sister & her little one. God bless.

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C.R.

answers from Columbus on

I had both of my children after the age of 35 (1 at 36 and 1 at 38). Because of my age, I automatically had a 1st trimester screening and a 2nd trimester screening (others have referred to these as ultrascreen or level 2 ultrasounds). These tests involve blood work and detailed ultrasounds and do not put the baby at risk. The results give you indicators of any problems but no definite answers. Based on this information, you can then decide if the risk is worth it to do an amnio or other further testing. With both of my children, we opted to not do any further testing and had 2 heathly babies. For me, the ultrasounds helped put my mind to ease and it was also great to see the baby in such detail.

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K.E.

answers from Columbus on

I am 37 and had my second baby a year ago next week. I had my first at age 30. For my first pregnancy, I did get the AFP test, which tests for the "likelyhood" of Downs Syndrome as well as spinal cord defects. My test came back with the indication of down syndrome and my doctor suggested I get an amniosentesis (sp?). I opted not to get that test because 1 in 200 cause miscarriage. Instead I had a level 2 ultrasound which measures the limbs and neck and examines the internal organs. The ultrasound is pretty accurate at picking up down syndrom but is not 100%. My sonagram put my mind at ease when the baby looked fine. My baby girl was born perfect and is now a healthy 7 year old. So, I worried needlessly for weeks between the AFP and the sonagram. For my second pregnancy I opted not to get the AFP test because so many come back with false results. Because of my age, I automatically got a level 2 ultrasound with my second and again, everytihng turned out perfect. There are so many tests out there and from what I understand the only one that is 100% accurate is the amniosentisis, which actually draws amniotic fluid and can test the chromosomes. But there is a high incidence of miscarriage. Hope this helps. I wish your sister the best of luck.

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B.R.

answers from Indianapolis on

My only warning is that my doc said there it is incredibly common to have a false positive with that test. She could worry herself over nothing. I wouldn't get the test and just pray for the best!!!! Imagine the test coming out positive only to have hte baby turn out completely normal.

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J.C.

answers from Cleveland on

Hi, S.! Please tell your sister congratulations! I will pray that all goes well with this pregnancy.

I had my first child at 37. The OB told me that my blood tests indicated my son had Downs. She wanted me to do an amnio. I knew it would not make a difference....I wasn't about to terminate the pregnancy! And although I read that there was, at my age, a .5% chance my son could have Downs, there is a 1% chance that an amnio will make a woman miscarry. I refused. Then after an ultrasound she told me that the measurements (neck, forearms) were on the high side, further indicating Downs. And she thought he also had hydrocephalus. (sp) She again pushed - hard - for an amnio.

So at 20 weeks along, I switched doctors. My new doc let me make my own decisions. My son was born at 36 weeks, perfectly healthy, no Downs, no physical problems. He is now almost 10, is beautiful, active, bright, funny, and has an IQ of over 150.

I don't know if your sister is a praying woman, but I had everyone I knew praying for my son, and I know that's why he is like he is. Even if she is not a spiritual person, tell her to maintain a positive attitude, state what she wants (a healthy child) and believe that she has it.

Also, you might let her know that I had my second child when I was 40. She, too, is healthy, bright, and funny.

Please let us know what happens. In the meantime, I will pray, pray, pray for her and the baby!

Blessings, J.

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A.X.

answers from Indianapolis on

S.,

I think that she should get the initial testing done, and if its highly probable that the baby will have DS, then I think she should get the extensive testing done. She should definitely asking a lot of questions. There is a very good reason to have it done.

If they detect that the baby does have some sort of birth defect or down syndrome, the doctors can do procedures (while the baby in in utero) that lessen the negative effects. They can remove water from the brain of a baby before it is even born, which depending on the diagnosis, can mnake a huge difference in the quality of life for the child when it is born.

I didn't know this when I was pregnant. I was under the impression that they did the testing so that I had a chance to terminate the pregnancy if the baby was diagnosed with one thing or another. So I was angry that they wanted me to do this test. (OF COURSE I WANTED TO KEEP REGARDLESS OF IT'S CONDITION- was my take on it). I wasn't informed that they like to find out to spare the baby some of the long term problems that can come along with down syndrome or any other malformation. I didn't know it was so they can help the situation. So, inform her of the other reasons that she shold do the tests available to her.

I would have never forgiven myself for passing on that test had there been a problem with my baby when she was born- because essentially, I had passed up the opportunity the help her early on.

I just didn't understand. No one explained it to me. I thought like everyone else thinks- 'I am not going to have an abortion because my baby isn't "normal."' Maybe they are explaining it these days. Maybe the doctor or nurse that I had thought I knew- but I didn't.

It's only right that everyone do this test when it is offered to them- for their babies sake. For their quality of life.

God Bless all of you.

A.

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J.F.

answers from Cleveland on

I have a son with cerebral palsey, epilepsy, asthma, allergies, a feed tube, baclophen pump and is a complete quadrapalegic. I can tell you that nothing will prepare you for the life of a child with a disability. However, I can also tell you that you don't know the meaning of life until you are blessed with a child with a disability. Yes it changes your whole world, we went from a 2 income family with 3 kids to a 1 income family with 3 kids, one of which is severely disabled. I had the test and it came out perfectly normal... It is very hard to adjust your life but well worth it. My son is now 7 yrs old and I wouldn't change him or my life for anything!!!
I will keep your sister in my prayers.
J.

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C.B.

answers from Dayton on

Hi S.,
I had several miscarriages before my successful pregnancy. Same thing, we had the miscarriages tested and found different things wrong. There was always something wrong. We had the too many chromosomes thing too, but at 12 weeks. There is something you can look for at about 16 weeks (I think) in your ultrasound. I think it was something about the spine. Have her ask Doc about it. The testing is pretty invasive and would put a potentially at-risk pregnancy at even more risk. Think about it, what would you find out? If it's negative, you would wonder if the test was right and still worry. If it was positive you would go nuts wondering what's wrong, how bad, etc. Miscarriages are God's way of preventing some of the heartache of a deformed or disabled baby.
Best of luck.
C.

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K.V.

answers from Columbus on

I was 38 and 40 when my children were born. My doctor is associated when Riverside Methodist and with both pregnacies I had the ultrascreen test done. It is a none invasive test unlike the amnio. It is done at the 15th week and uses a high level ultrasound to determine the likely hood of Downs and one other Chromosome Abnormalities. We did to determine whether or not to do an amnio. Since my results can back with a low chance of have these disorders we did not do the amnio and both my boys are fine and healthy. The paranatologist wanted me to do the amnio with the second but there were no health, organ or structural abnormalities that are usually an indication of downs so we opted not too. Also me husband and I knew this was a possibility with my age and we had agreed that if we had a child with downs that we were going to keep it and not terminate the pregnacy so to us it did not matter. Also with her being older the ob will take extra care of her and should do more ultra sounds if she feels them necessary. Otherwise the high level utra sound she should have at 27 should tell them if the baby has downs.

I had a fried and her cousins was pregnant and they found out that the baby had a rare chromosomal disorder. And since the range of problems associated with it, they tested her cousing and found out that the mother had the same problem and since there was no manifestation of any problems that the baby had inherted the extra chromosome from its mother and likewise would probably not have any problems either. Both mother and child are happy and healthy with no problems.

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R.D.

answers from Indianapolis on

If you find out the baby has Down's Syndrome, how are you prepared? You now spend the whole pregnancy worrying what it will be like to have a DS child. Fact is, I have seen DS baby's go home from normal newborn doing just fine bottle/breastfeeding, and I have seen them have to go immediately for heart surgery. There is such a range of illness when you have a DS baby. Also, you can have mosaic DS, and baby is pretty near normal.
I was 39 when I had my last baby. I was severly pressured to have an amnio, I was told the AFP blood test is usually inaccurate with advanced maternal age. When I found out I was pregnant, my son, who has two older sisters, was very worried he would have another sister. He was 8 when I was pregnant. He didn't know what it would be like to have a younger sister, he just knew how bossy his older ones were, and didn't want that again. It made me realize that if I found out I was having a DS child, or any chromosomal anomaly, I wouldn't KNOW what it was like to have that type of child. I would just be worrying like he was. Also, no test can be done to tell me if my child would have autism, learning disabilities, die of SIDS etc. There is no guarantee you are going to have a perfect child when you get pregnant.
From my understanding, she wouldn't be able to have any test any time soon, she is too early. Stress is not good for her or the baby. I agreed to an extensive ultrasound. From this u/s I did find my risk of DS plummeted, but my risk of Trisomy 13 or 18 soared because of something they found on the u/s that could be normal or could be an indication. I was very pressured for the amnio then. Refused. Even though this finding would disappear in most cases, when it did disappear it didn't mean the baby didn't have the condition. I had to have a follow-up u/s when I was too far for an amnio. Magically, I was told I definitely had a healthy baby, congrats. What I am trying to say is ob's have the highest malpractice insurance, so they have to encourage a lot of tests. And even if the risk of miscarriage with amnio is only 1%, if it happens to you, it doesn't matter how low the risk is. And it has to happen to someone, or the risk would be 0.
Good luck to your sister. Prayer, and putting it in God's hands is the best. IF after all this, she still thinks she would feel better with the testing, then she should go for it. She is the one that will have to live with the results, whatever they are.
R.

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T.P.

answers from Indianapolis on

Hi S.,
My cousin has a baby with Downs. She didn't have test because was just 29 when she got pregnant. She of course loves her daughter very much but would have loved to have been prepared. When her daughter was born 3 weeks early, her heart and lungs weren't fully developed so she was in the NICU for about 8 weeks. She was on an ECMO machine to filter blood through her body in order to let her heart and lungs mature. With this she was sedated most of the time. If my cousin had known the doctors would have prepared her. Her daughter is doing good now. The form of Down Syndrome she has is mild so she is not too far behind. Good luck to your sister.

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M.C.

answers from Cleveland on

Hi S.,

Let me start off by saying that I hope everything goes well with your sister. During my two pregnancies, I opted against the down syndrome test. The way the results were explained to me were that they were a probability. Therefore, if the result came back positive it really meant that there was a higher probability of the fetus having down syndrome than not having it. On the other hand, if the result came back that the fetus didn't have down syndrome, that meant there was a 49% chance that the baby did not actually have it. I also want to add that I had no history of this disease in my family nor any other risk factors associated with my pregnancy. You mentioned that your sister has a different set of circumstances and I am sure that is going to affect her decision. I don't know if the test would put her mind at ease. There is a possibility the test could come back positive and it not be true and vice versa. I don't know if I would want to worry about it for 9 months and then find out all of the worrying was for nothing and also I wouldn't want the test to come back negative and then feel relieved until the baby arrived only to discover the baby did have downs. I took the approach of whatever is going to happen is going to happen and the test isn't going to change that. Good luck. I hope some outside input helps make the decision easier whatever the decision happens to be.

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D.C.

answers from Columbus on

I was preganant for the first time at age 39, and had the "Ultrascreen" - nuchal translucency (sp?) test done. it was a piece of cake - some ultrasound measurements and blood work. Got results back fairly quickly and put my mind at ease. Main focus of test was Down's, but it looks for other chromosomal problems also.

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L.H.

answers from Dayton on

When i was pregnant with my first child I was told that he was high risk for Downs. At first, like any new mother, I freaked. I decided to go forward with additional testing to find out for sure. The main reason that I wanted to know was so I had ample time to research it and to see what challenges we as a family would be facing. My 9 year old son is not a downs baby and is very healthy today. But I was confident in knowing that either way would only strengthen my ability as a mom. My suggestion is to find out and give yourself the ability to be informed to the best of your ability. No matter if the baby has down or not - it is still a gift from God and a precious little person.

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D.M.

answers from Toledo on

I have a 3 1/2yr old little girl with Down Syndrome and we did not know in advance, other than there was a chance due to my age (40 at the time). I do know that most fetuses that have the extra chromosome 13 or 18, do not make it to term (down syndrom is the extra 21 chromosome). the tests are good and safe. if your sister wants ( and the dr recommends) than I suggest going for it. it will help to put your sisters mind at ease, and if the baby does have ds and she feels comfortable then she cna start reading and learning as soon as possible about DS. my daughter has very mild DS but there are several levels and we have been very blessed. children with DS are the most loving and appreciative you can imagine and there are many support groups in every communit. a very good website to visit is the Down Sydrome website (i am sorry I cant think of the exact name of it right now, but easy enough to look up). there is a ton of information, even on the testing itself, i believe the promote it. you can email me directly if you would like, i live in Ohio...

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R.K.

answers from Cleveland on

They had asked me if I wanted to have that amnio testing. I said, "Why? it's still my baby and I'm still going to love it no matter what!" I think amnio is just a way to scare mothers into terminating a pregnancy. I have a friend that was in her 40's when she got pregnant for the FIRST time! They amnio tested and said that there was going to be mental retardation and other problems and tried real hard to get her to terminate. In fact, she had to find another Dr. because her first Dr. refused to "be any part of this". Well, her baby was born and today he is 23 years old, bright, healthy, SMART! he's finishing up college. I kept trying to get her to take her little boy into that first Dr. and show him off and say, "SEE! You DON'T know everything!!" and then walk back out of the office! My cousin was amnio tested on her 2nd pregnancy and almost caused a fight between her and her husband. The were also told that their baby was Down's Syndrome. HE wanted to terminate, she didn't. THEIR baby is now 6 years old, beautiful and smart little blonde haired blue eyed little girl!
So, MY stand on amnio testing is DON'T! Leave it in God's hands. Trust HIM that the baby will be ok. and if not that God will give her the strength to to deal with whatever is given to her.

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A.R.

answers from Cincinnati on

I recently had the testing done for down's syndrome. I am 35 and I was pregnant with my second child. The testing consisted of a consultation with a genetic counselor. She asked me and my husband questions about our family history. After that I had a blood test done and then an ultrasound. The ultrasound measured certain areas for extra fluid which was supposed to increase the likely hood of down's. If my results came back with a high probability then I could have had an amnio done to determine for certain. My results were fine so I didn' get the amnio done.

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M.W.

answers from Evansville on

I was 35 when I got pregnant with my twins (turns out, chances of multiple births also increase with age). When my doc asked about testing for Downs, he asked me if the test came back positive, would I change anything? We felt that we needed to know because we had two babies, and we wanted to be properly prepared. I said no, we wouldn't terminate the pregnancy (we tried for a long time to get pregnant), so he said he did not recommend the amnio. The test can cause miscarriage, and it is not always accurate (false results). I did do a screening that included an ultrasound and 2 or 3 blood draws. They were able to give me a pretty accurate potential outcome (the chances of each twin had less than a 0.5% chance of a chromosomal defect - I still have those letters!). That answer was good enough for me, and I didn't risk their lives with an amnio. I have known at least 4 people who did have amnio testing done, the pregnancy was safe, but in 3 of them they got a false positive result for Downs. Two of them the babies were fine, and the other one had a cleft lip and pallet, but not Downs. Unfortunately, there are many other chromosomal defects that babies can have, and some you really need to be prepared for - much more than Downs. The screening I did tested for any chromosomal defects. With her history, I would suggest the screening. If the chances come back high, then she can consider the amnio. If they come back low, then she can relax. With two babies lost, the docs will probably do several ultrasounds (usually in a high risk pregnancy they do this), and anything abnormal will be seen during these screenings, as will everything good!

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P.R.

answers from Cincinnati on

I had amnio which was recommended purely because of my age. I don't think I would be able to do it again. We are talking about having a second child, and my husband and I are at odds about this. He would like to know definitively, but he wasn't the one stabbed with the needle.

I would just do the non-invasive tests, even the bllod draw, especially if they are planning on carrying the baby to term no matter what.

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D.G.

answers from Columbus on

Down syndrome occurs when an individual has three, rather than two, copies of the 21st chromosome. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.
Down syndrome is the most commonly occurring chromosomal condition. One in every 733 babies is born with Down syndrome.
There are more than 400,000 people living with Down syndrome in the United States.
Down syndrome occurs in people of all races and economic levels.
The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80 percent of children with Down syndrome are born to women under 35 years of age.

People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.

A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all.

Life expectancy for people with Down syndrome has increased dramatically in recent decades - from 25 in 1983 to 60 today.

People with Down syndrome attend school, work, participate in decisions that affect them, and contribute to society in many wonderful ways.

All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.

Quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community enable people with Down syndrome to develop their full potential and lead fulfilling lives.

Researchers are making great strides in identifying the genes on Chromosome 21 that cause the characteristics of Down syndrome. Many feel strongly that it will be possible to improve, correct or prevent many of the problems associated with Down syndrome in the future.
national down syndrome society helpline | 1.800.221.4602

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