Needing Advice on Quad Screen Results

Updated on November 12, 2009
S.H. asks from Mead, CO
37 answers

I took a quad screen 2 weeks ago and it came back as high risk for downs. 1 in 27 chance. I have an appointment with a specialist next Wednesday to do an ultrasound that looks for genetic markers with the possibility of an amnio following the ultrasound. If the ultrasound show no genetic markers for downs then the chances go down to 1 in 54. To me that is still pretty high.

I'm just really unsure on what I'd do if the results did come back to be downs. I already had a very complicated pregnancy with my twins and was hospitalized for 8 weeks prior to delivery. I was just really hoping for a normal pregnancy and then got this call.

I am just wanting advice on what to expect with a child with downs. We haven't decided if we are going to still continue with the pregnancy.

Please don't reply and give me your pro-life speals. And please don't give me scripture. Just looking for productive conversation.

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So What Happened?

So, I finally had my amnio on Wednesday and I got the results back yesterday. They told me I'm having a girl with no chances of downs. We are so excited and relieved that we don't have to make any kind of decision about the what if's anymore. Everything looks fine and we can't be happier. Thank you to everyone who contacted me and took the time to give me advice.

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R.P.

answers from Salt Lake City on

Try not to stress. The waiting period is hard, I know. I went through something similar with my youngest. She is now a healthy three year old.

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S.L.

answers from Salt Lake City on

Just wanted to let you know, that this test has false positives all the time. My sister in law went back for the follow up tests and everything was fine. So I would not worry until you go to see the specialist. Good Luck!

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N.P.

answers from Salt Lake City on

I had a good friend that the testing and it came back with a high chance for downs. Basically, she planned on having a downs baby. Read books, got things ready and planned it as part of her life. Then, when her baby was born, she was absolutely normal. No signs of downs. We were all amazed, and shocked because we were expecting something else. I'm told those tests are not very accurate, so I have not even gotten the testing with both of my pregnancies after what my friend went through. All the worry, all the questions for nothings.
I almost feel like you won't KNOW until you have the baby. If you have the baby and you can't handle the hardship of a downs baby, I know someone who would adopt from you in a heartbeat.
I just wouldn't want you to lose a perfectly normal baby because of faulty testing.

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M.L.

answers from Dallas on

Hi S.,
Congratulations on your pregnancy! I have been in your shoes with the screening and results. It is scary, but remember that the numbers mostly have to do with your age (You are 34 or older, right?). At the ultrasound they will look for Nuchal thickness, which is the fold of skin behind the neck, very thick is an indicator of genetic defect- or it can just be thick skin. Some babies are even born with a flap that is surgically removed.

If your results from the ultrasounds look suspicious, they will recommend an amnio/cvs test for a genetic test that will truly give results. You will have to make a decision then about the dangers of the test vs. your need to know.
My husband and I chose our need to know. Any like you, I wasn't sure how I would proceed based on the results. I know you feel like skipping everything and going straight to the genetic test, but the test is invasive (you probably already know this) and so they want to use alternatives first.

The best advice I can give you is to learn what you can, but not overwhelm yourself with numbers and statistics. Please take a deep breath, care for yourself and your girls, and value each day (as long as they are) until you have the tests and get the results. It is so scary because you can't control anything as far as the tests go, but you can control your health and emotional well-being.
I wish you luck and peace!

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C.T.

answers from Denver on

Hi S. - first thing to understand is that these screening tests are merely based on statistical algorithms and all too often do not have any relation to whether or not your child is going to be genetically "normal" I had triple screen with first that showed 1/54 chance of trisomy 18 which is a horrible and often fatal genetic defect. I had ultrasound and amnio and the results showed no genetic anomalies at all. I encourage you to not act prematurely or out of fear in this decision, instead waiting until you have all the results back and you know what you are dealing with in reality. I spent countless hours grieving over what might be, full of dread and fear over losing a child who was as much a part of my family as anyone on the outside.

I've had multiple personal experiences with families with a downs child. My cousin is downs and is now 27 and living on his own with a roommate in TX. I worked with downs kids as part of a special program at my high school and my son has a delightful smiley little boy with downs in his preschool class. What I've experienced is amazing kids with a heart full of innocence and unconditional love capable of brilliant accomplishments. The other experience I've had with downs kids is a couple I know personally who couldnt have kids of their own. They specifically chose to adopt a child with Downs. They had to wait 2 years by the way - they were on a waiting list with hundreds of other parents desiring to bring a child with Downs into their family.

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M.H.

answers from Denver on

S.,
I was raised in a household where my aunt was a teacher in special ed. I had mentally and emoitionally imapired children around me my whole life. I am not an expert on downs... but I have seen a lot of it. I cannot give you feedback on what to expect either... but I empathize with your situation completely. I would get an amnio (I did myself) and if you dont' want to wait for the amnio at 20 weeks get the CVS http://www.americanpregnancy.org/prenataltesting/cvs.html
The CVS can tell you with absolute certainty if the baby has downs, and it tells you at 12 weeks. This could help your decision making.
I was lucky to have a normal childbirth and not have to make that decision, and felt myself it would be incredibly difficult for me to do. It would change everything.

I wish you clear thinking in your decision making and a strong heart. Don't forget things are most likely FINE. That quad test is stupid, and I wish they would stop doing it!

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M.R.

answers from Grand Junction on

It's a tough, tough situation, for sure. With my 3rd son, I had an ultra sound which results came back with a possibility of Trisomy 18, which you may know, kills most babies within a week or so of birth. Those who live, never live productive lives. They can have clubbed hands and feet, cleft lip, the list of defects goes on and on.

I, too, was in the situation with you, where I began to think if he could die after being born, would I go through with the pregnancy? I could wrap my head around having to make that decision. A child with Downs' syndrome would be a full-time job for you and your husband. Not to say that the love the child could return to you wouldn't be worth it.

It's a decision ONLY you can make. Will you have time for all the drs. appts., therapy, special activities? It's a life-long committment, also, as these children I would guess, never make it out of the family home on their own.

Would you resent the child for taking up so much of your time? The twins in their older years may be recruited to help take care of the special-needs child. How do you feel about that?

My advice for now is LOVE that baby! You don't have DEFINITE results yet, and as I worried myself sick over my 3rd child, he turned out PERFECTLY healthy. Don't worry about what you're going to do right now. Keep eating healthy, getting enough sleep, and keep hope alive that there was an error in the quad screen. As I, too, will keep hoping for you.

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M.W.

answers from Great Falls on

Just to reiterate what many others have said, I know a lot of people who have perfectly normal children that had the same test results you do. There are a lot of false-positive test results out there! Good luck. My thoughts and prayers are with you.

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K.E.

answers from Colorado Springs on

We had this test run when we got pregnant as well. It was more for a way to prepare ourselves mentally for the possibility of downs than anything else. We would have continued the pregnancy and loved our child just as much even if he had downs.

I wish I had know before about the high false-positive rate. I wouldn't have wasted the money. So I guess what I'm saying is don't get too worried about the results, they are not really all that reliable.

If you are really concerned about it have the other tests done to confirm. Don't put your faith in a test that is known to be inaccurate much of the time. Just realize that there are risks with amnio as well.

In the meantime I would suggest doing research about downs so you know better what to expect. Don't rely on word of mouth or what you hear from others. It is very different from the reality. Life is very different with a child with downs, but it is just as fulfilling and have no doubts you would love him or her just as much.

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K.R.

answers from Denver on

1 in 27 sounds lower than 1 out of thousands, but when you are the 1 in a million for something hard, does it really matter what the odds are?

During my last pregnancy for several months my son was showing a brain abnormality. I was high risk and had frequent ultra sounds. To make a long story short..no problem. He was born perfectly healthy.

I appreciate modern technology, but the same scenario has occured many times. I have known women that it has been suggested to end their pregnancy that ended up worrying for nothing and I have known women who have also birthed a downs child with no forewarning. I think that life is an amazing gift and sometimes that which we look on as a difficulty becomes a huge blessing.

I know this is a hard time of waiting. I would talk to women that have been through the same scenario and even those that have a downs child to get perspective. If you would like, I know someone who gave birth to a downs baby when she was 26 and it was her first pregnancy. Today her son is in his late twenties and lives in a group home. She has been a great resource for me personally regarding a lot of issues.

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N.W.

answers from Denver on

I also had had "positive" quad screen results, so I completely understand how worried and upset you must be. My ultrasound revealed a completely normal fetus, but with a "velamentous cord insertion"- an unusual, weak attachment of the umbilical cord to the placeta. So, the worry continued... they also reported short femur bones, which can be a downs' marker, but hey- all the women on both sides are under 5'4" and this was a girl fetus- so I opted to not get the amnio.

If I do have another pregnancy, I will NOT have the screen done- the amount of worry it caused me is just not healthy. Not that that helps you now, but what I want to tell you is that the odds are still greater that your fetus is "normal" than not. That the screen only reveals something off the bell curve, that may not have anything to do with chromosomal irregularity.

Hang in there, S. :)

N.

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L.L.

answers from Denver on

I had close to the same results with my quad screen. Try to remember there's a 95% chance the baby does NOT have downs. I know telling you not to worry is fruitless, as I've been there myself. I'm hoping your u/s results will put your mind at ease.

Sending positive thoughts and strength to you, S.!

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O.L.

answers from Denver on

We got sort of high indicators for Downs on our quad screen, too. Turned out to be nothing...but that's not really the point, is it.

Our indicators were on the high side for both Downs and Trisomy-18 so I did some research on both. Trisomy-18 is, hands down, a devastating diagnosis. Because of the likelihood of the baby not surviving past the first year, I'm not sure we would have carried to term in that case. We'd already lost one baby to miscarriage and I wasn't sure I could handle losing one AFTER meeting him/her in person.

Downs is so much harder to predict. A child with Downs might be nearly 'normal' or they might suffer from fairly debilitating effects. And the crazy thing is that there is no way to predict where your child would land on the scale. In our case, we decided that was a risk we were willing to take. I just couldn't see NOT taking the chance.

Yes, it could mean possibly lots of extra medical appointments and health issues. Yes, it could mean sacrifice on the part of our older child (3 when we had our 2nd)... and that's probably the part I struggled with most. Yes, it could mean that parenting became my FT job for the longterm, not just 'til the kids were in school full-time. Or it could mean none of those. <sigh> It's a really hard one to think about.

I do have a friend who has one 'normal' child and one with Downs. I wouldn't dream of asking her if she'd still have him, knowing what she knows now, but I feel certain that her answer would be yes. And he does have therapies and illnesses (he's had heart surgery) and it's a lot of hard work. But he clearly brings a lot of joy to the family as well.

Best of luck with your decision. I know you'll find the right answer for your family...I just hope it comes without too much difficulty. :)

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J.N.

answers from Salt Lake City on

The only way to know for sure is amnio (even though that may not be 100%). So I would be very pro-active about getting testing done - if you do decide to end the pregnancy it's better early on.

However, I have known several people with Down's Syndrom - kids and adults. They have been such sweet people, very genuine and loving. There are also many many different levels of functionality. Some people, you can hardly tell (they are slower at learning things, and probably would still need special services in school). Others, it's more severe. There's no way of knowing until they hit that stage.
Do you remember the TV Series "Life Goes On"? One of the characters, Corky, had Down's, and was played by an actor who also had Down's in real life. His (the actors) parents were told he would never be able to read, and may not even learn speech. They didn't believe it, and worked with him expecting him to be able to learn things. And he ended up an actor!
I just wanted to put it into perspective. I hope your baby ends up being normal and healthy, but if it does come back that he has (or likely has) Down's Syndrome, consider the whole picture :)

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M.R.

answers from Boise on

I have a perfectly healthy 14 year old that was supposed to be born with down syndrome. He was not born with down syndrome even after genetic testing, special ultrasounds, although this was before 4D ultrasounds, and all the counseling that they have couples attend to prepare for a special needs baby. It was painful to expect a special needs child not knowing how it would turn out but in the end it was all for nothing because all the tests were wrong. The next two pregancies when they asked my if I wanted testing I just told them I'd take what I got at delivery and have two more perfect babies.
I have been a special education assistant and worked with a lot of kids with downs and to be completely honest it's not that big of a deal. Down Syndrome is one area in which there are tried and true methods that really work. Most of the kids I worked with are mostly independant and really no different than you or me besides the way they look and a few special health issues. People with downs age differently but there is no reason they can't meet the same milestones as anyone else.

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K.H.

answers from Denver on

I had a friend who went through the exact same thing (after having twins too, funny, isn't it?) During her second pregnancy she too received a high chance for a downs baby during her quad screen. She received great news during the ultrasound follow up, that the baby looked downs-free, and this was confirmed by an amnio. Not that this will make the next few weeks any easier for you, but there is a chance that you received a false positive. I hope for the best for you and your family!

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J.A.

answers from Denver on

I guess if you really don't want to be raising a special needs child go ahead with the testing, IF you will keep the pregnancy either way, there is no point in even getting the other tests done. I think a 1-27 chance is kinda high but you have a 26 in 27 chance the baby will be fine. I refused the quad screen with all 3 of my kiddos, because I saw no point in worrying since I would keep the baby regardless of results. HMMMM in my opinion the world of medicine makes mistakes, but God does not.

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H.Q.

answers from Great Falls on

S. -

I have been offered those tests with all 3 of my pregnancies. First, how much did your doc tell you about the test? They have a very high percentage of false positives. Meaning that very frequently say there are indicators for something and actually there are none. So, first - stop and take a deep breath. Understand that I'm in no way telling you that everything is alright.

There are things they can look for in the ultrasound. And an amnio will tell you for sure. There are dangers associated with amnio also.

I was 38 when I got pregnant with my son. I was 39 when he was born. Over age 35 risk factors go up. I was again offered these tests. I honestly considered them - not for me as I don't believe in abortion. But my husband might have needed time to adjust. I talked with him and we decided not to do the test.

My sister (9 years younger than I am) has a friend who is a single mother of 3. Her middle child has downs. This girl has been VERY proactive in making sure her daughter has all she should in order to have as productive a life as possible. I was amazed at the amount of help available. So, you might consider doing some research into that before making a decision.

I know it's scary. But if you decide to have this baby, when labor is over and you hold your new addition - you'll discover perfection.....I believe that. And I was ready to stand by that with my son.

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J.P.

answers from San Francisco on

I have been tested for both of my pregnancies because my husband's cousin has downs. I can't honestly say what we would have decided if it had been positive. I am pro-choice, but that doesn't mean I would automatically choose an abortion, but it would have been an option.

I would suggest talking to someone that has raised a downs child (not just childhood, but through adulthood). I know that I wouldn't have been able to handle it with the first, and I'm not even sure about the second. I would like to say that I would have no problems with it, but I can't.

The tests that I did for it was an ultrasound, and then a blood test. What did your screening consist of? Definitely continue the tests until you are comfortable with the results, at least enough to make your decision. Only you can decide if you have the ability to raise a child with special needs. Taking into consideration the marital strain as well. If you decide to continue, join a support group now, and prepare yourself as much as possible.

Also know, that if your concerns are with the pregnancy itself, having a child with downs won't necessarily affect that, it is once the child is born that the differences are apparent.

Good luck, my thoughts and prayers are with you.

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K.D.

answers from Salt Lake City on

I did the Quad screen with both of my babies (results were normal) but I felt it was important to be prepared for anything that could come our way. If they had been high for any genetic disorder, I certainly would've had the extra ultrasound and amnio. I always thinks it's better to be prepared then go into a situation and have it turn out not as you expected.

I had a friend who's screen came back with a high chance for Down Syndrom however her amnio showed a normal pregnancy (her son is now 8). I say get the test and easy your worry. Only then can you make the decision of whether to continue with the pregnancy or not.

I have a friend who had a child with Downs when she was 16. While she said it was difficult raising a special needs child, her daughter is now living on her own and loves it. She's a very sweet girl.

I wish you all the best during this difficult time!

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C.E.

answers from Denver on

S.,

I have not words of wisdom or advice from experience. I have heard how often those tests end up being wrong, so it's got to be one of the hardest decisions in your life.

I just wanted to let you know my thoughts are with you and I am sending prayers for strength and the courage to get through all that you must be dealing with right now. I hope it helps a little.

God Bless you and hang in there -
C.

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M.W.

answers from Boise on

Hi S.,

I used to work with kids and people with Downs Syndrome. They vary in severity of the disease. However, I worked with a variety of kids with a variety of disabilities. This may sound stupid, but if I had to have a child with a mental disability, I would pick Downs Syndrome. It is not that bad. The kids and adults with Downs tended to take longer to reach their milestones, but once they got a concept, it stayed with them. Some babies with Downs have a heart problem that goes along with the syndrome. The doctors check for this and can correct it, I believe. The books also say that their life expectancies are short - to maybe their 20s, but I never saw any of them pass away this young. I was working with some in their 40s and 50s, and they still had great health. They were a joy to work with.

I know no one wants to have a child with a disability, and my heart goes out to you, but from my professional perspective, Downs Syndrome was easy to work with, the kids could still learn, and lots of them were living in group homes or apartment-living with help when they were adults, working at jobs like McDonalds.

Finally, I know a lady who had genetic testing when she was pregnant that showed she would have Down's kids. She kept terminating her pregnancies, and then she found that her DNA showed that she had Downs, and she DID NOT! So don't assume that the doctors know everything. Plus, doctors tend to give worse case scenarios so that they are not sued, rather than what will likely happen.

Hope this helps,
Marci

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J.F.

answers from Denver on

A friend of mine had this happen (ultrasound showed markers) and with amnio it came out fine.
However the reason for me responding, is if it does come back positive for downs...
This isn't a pro-life speach, but instead please know a downs child can truly be a light in your life. While there are many levels of function of downs children, in general they are tender and sweet and fill your life with so much joy and happiness! They find joy in so much and in ways that us "normal" people can't.
Don't let the fear of the unknown stop you from bringing this child into the world. If it does have downs perhaps you were choosen for a reason. Be brave and see where this journey takes you!
But good luck with it all. I am sure in the end it will all turn out fine!

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J.C.

answers from Colorado Springs on

I had this test done and mine also came back positive for Downs. However I now have a perfectly healthy 6 month old little girl who does not have Downs. This test has a huge false positive rate and you should definately check all roads before choosing to terminate. What if it's wrong? Good luck:)

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I.M.

answers from Denver on

If I were you, I'd try not to think about what to do about the pregnancy until you definitively know what you're facing. It sounds to me like even if the ultrasound turns out fine, you'll still be uncomfortable with your odds, so why don't you just go straight to the amnio and find out for sure. That way you can put your mind at ease, or, if the results aren't good, you can make your decision sooner rather than later.

While 1 in 27 is high, there is also a 26 in 27 chance you're fine, so the odds are you are worrying for nothing (right now, you have a 96% chance of a healthy baby, so thinking about terminating when you don't know more will just make you more stressed and worried). You certainly shouldn't make any decisions till you have your answer.

Good luck. Sorry you are going through this.

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K.D.

answers from Provo on

What a scary thing! I feel so bad for you at a time which should be joyous you get this terrible stress of news. We have friends who were pregnant the same time I was last year. She delivered about 2 months after I did and found out then that her baby girl had downs. It was a really hard time for her. Downs babies come with lots of medical trials, but they are sweet, loving kids too. My baby is now 18 months and is such a big girl (seems all grown up). My friends baby is big, but still a baby -- working on rolling over and trying to learn how to sit up. If your baby does have downs syndrome you can expect slower development and extra medical care, possible heart problems and one of the sweetest babies you have ever met. We'll pray for you. I hope your baby is healthy.

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L.O.

answers from Denver on

My sister worked with children with physical and mental diabilities. She would say that Children with downs synrome are smart, adorable, quick, and understand way more than we do. She would also say that they have a better quality of life than we do too. They have their difficulties but so does every child. I personally know several people with downs syndrome children, all of the parents would tell you how blessed you are. Those tests are not THAT accurate either. I mean they cant even tell 100% if your baby is a boy or girl by Ultra Sound. Also, Amnio's can be very damaging to the baby (ie. can cause the baby to be deaf) Do your research to see if you would even want that done too.

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B.L.

answers from Denver on

Hi S.,
Just wanted to give you some support. Exact same thing happened to me (with my first, and only baby from IVF). We did genetic testing on the embryo before they implanted it, and our quad still came back 1 in 18. I was horrified! I couldn't believe that after testing the embryo that something ELSE could possibly be wrong. Long story short, the post quad screen ultrasound shot us back up to 1 in 75 or so which is really good odds. They sound bad, but when you think about it the other way 74 out of 75 times the baby is fine. We opted out of the amnio because my regular OB felt we were fine. Our daughter is just perfect!
Hang in there. Feel free to email me privately if you want more details. I did TONS of research on this so I am happy to share.
All the best,
B.

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V.R.

answers from Denver on

My husband and I have 3 children and have had 4 pregnancies. One was a spontaneous miscarriage, unfortunately.

We had a wise RNP tell us early on that the early fetal testing can be an important way to be prepared for the time of delivery so there are no "surprises." For example, if a baby tests as one that might need extra attention in the delivery room, then a Pediatrician, Neonatologist, etc. can be on hand. But, what of false positives in the quad screen tests? We have all heard of these. One of my quad screen #s (I don't remember which indicator) came back abnormally high and the Dx was Preeclampsia. I went through all the extra fetal/mommy monitoring and it turned out the placenta was just aging quicker than normal. Mother and baby were fine.

I have very difficult pregnancies and during each one I tell myself, my husband, and anyone else that asks, "No, I won't do this again." But, in the grand scheme of life and as I try to live so that I don't have regrets later, it all changes post partem. Our children are ages 6, 4, and 2 and I don't think we're "done." I have met too many women that are past their child bearing years and regret not having more children. Our youngest was a "surprise" and honestly I wasn't excited about the new life for the first trimester. We had just moved out of state away from my family and it was a stressful time already... and then I found out we were expecting. 2 years old now, she is such a joy in our lives and I am ashamed that I ever felt the way I did. We cannot imagine life without her. I guess, what I'm saying is... the 9-10mths of gestation, complicated or not, is really minimal when you look at the rewards and joy your children will bring you. My friend has 3 children and for each one has been on bed rest for the entire 3rd trimester with C Sections across the board. The love and joy children bring just outweigh the pain and difficulty or we women wouldn't go through it over and over. You said you had a complicated pregnancy with your twins, but yet...you got pregnant again. So, yes pregnancy is a small sacrifice to make when you look at the big picture. IMHO, pregnancy is a bad time to make any really important decisions about reproduction. The hormones we women deal with are so out of control.

My thought is, do the additional testing and go into the delivery room prepared mentally and with any extra, necessary medical staff on hand, if recommended. And, this may just turn out so differently than you fear now. I vote, meet the baby first on the other side of your uterus before you decide something permanent, with the chance that the testing, the doctors, and all the medical "wisdom" are mistaken. That is a decision you cannot reverse. But, when you deliver, IF your baby boy/girl has Down's and you and your family are not prepared to raise a Special Needs Baby, then it is honorable and easy to find the baby an adoptive home. I have many friends that are unable to conceive and have found other ways to bring children into their lives to love.

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R.M.

answers from Denver on

Here are the facts..
You wanted another baby...right
and your request was given.

If you choose to terminate,
you will have this life,
you will miss out on.

If you lose this one of natural means,
it will be out of you hand,
and a lot easier to deal with emotionally!!

Chances are,
that this could have been
one of your twins.
Could you choose one??
Would you care for them any less.

This is not a speal!! It is reality!!
Good luck with you decision!!
I hope that it is what you want!

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M.R.

answers from Provo on

I have never had a child with downs, if that is what is turns out to be. But i've grown up around it a lot. ihave 2 cousins with it, and a sister in law with it. It can be challeging. They need a lot of extra help, and it takes a lot longer for them to learn to walk, take care of themsevles, etc. It also can be expensive if they have heart issues. However, as far as personality goes these kids are the most loving kids you'll ever meet. They accpet everybody and love everyone for whoever they are. And for the most part are often happy children. (depends I guess on that, just in my experience).

Good luck with your desicion

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T.S.

answers from Salt Lake City on

I was told I had to have the same test So I called a friend of mine who has a downs child and a step son that is downs, she was surprised to learn that her son was sown when he was born, she said no matter how many books you read or talk to "specialist" you can never be fully prepared for that type of child they are all different. I hope this has helped. Good luck

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L.B.

answers from Denver on

S., I know it is hard but try not to stress. This exact thing happended to me and everything turned out fine. My test came back with high result for downs (really high), then they did the ultra sound and felt there was still a high possibility of downs and asked me if I wanted to do an amnio to know for sure and I did. The amnio came back negative and I have a beautiful 9 year old daughter. It is tough because, as I recall it took 2 weeks to get my results back so the waiting and thinking was hard. (Also, I had heard that this test gives a high percentage of false positives for downs and that is why I did all the test so I would know for sure.) I think you do the ultra sound and then if the ratio is still high for you do the amnio and then you will know for sure what you are dealing with and can make a decision then.

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J.H.

answers from Denver on

One of my best friends has had a little boy with downs just over 2 years ago. She is in medical school and I take care of her little boy. His type of downs is mosaic which means not all of his cells are downs. In fact, most of the time you wouldn't even notice it. He does have a little of the look in his face, but he is the happiest little guy. Her birth turned out to be a bit difficult, but that was because she is really, really small and they thought she would be able to do a natural birth, but after laboring for 25 hours they realized that they needed to do a C-section. He was in the NICU for 10 days, but ended up not needing any surgeries at all. My son is just under 2 and the boys play together so well. Although the little boy I watch is not quite developmentally advanced as mine, he understands so much and doesn't have a problem functioning. He walked a few months later than a non-downs boy, but crawled earlier and faster than most kids I've seen. He is very mischevious, but always has a ready smile. Also, even though his vocab is not that developed, he does understand and use many baby signs. I know that this is a tough decision for you. I can say that although this little boy is not mine, I spend a lot of time with him and delight in him. Not having him in my life would be a real loss to me and my son and I know that his parents feel the same way about their lives.
I also know that my friend's recommendation would be to find a good OB who you can trust and go over everything with. Make sure you have one that's honest and will keep you in the loop. Don't let anyone pressure you, but follow your heart completely. Also, make sure to show as much love as you can to the baby in the womb so they are feeling it already.
I know there are other parents who have not had as good of experiences as we have all had with this little boy, but I hope this info is a good encouragement to you.
Jessica

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A.C.

answers from Colorado Springs on

I didn't get tested w/either of my boys for this reason (I have an aunt w/Downs). I know what my choice would be if it came back positive, but I didn't want to have that on my mind the rest of my pregnancy.
Best of luck to you in whatever you decide! Have you looked into Downs message boards? They might be able to give you pros & cons that you didn't think about before you make your decision.

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A.S.

answers from Denver on

As many others have said, the tests are often wrong. The only definitive test is by karyotyping or chromosome analysis using chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second or third trimester.
However, if you're like me, you'll want to read up on Down's anyways - just in case. Here is a website that has a list of books that are recommended: http://www.ds-health.com/books5.htm.
Also: be aware your doctor may not be unbiased: in anonymous surveys completed by 499 physicians who deliver prenatal diagnoses, only 63% of them ‘‘tried to be as unbiased as possible when delivering a prenatal diagnosis.’’ Thirteen percent reported that they ‘‘emphasize’’ the negative aspects of DS so that parents would favor a termination;
10% actively ‘‘urge’’ parents to terminate; 10% ‘‘emphasize’’ the positive aspects of DS so that parents favor continuation; and 4% actively ‘‘urge’’ parents to continue the pregnancy. http://www.brianskotko.com/images/stories/Files/ajmgprena...

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J.N.

answers from Denver on

As scary as it sounds, 1 in 27 is a 0.037% chance of downs. 1 in 54 is a 0.019% chance. Please keep that in mind during this challenging time. The odds are still in your favor that this is a healthy pregnancy.

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