Pregnant and Given 1/9 Chance Baby Has down Syndrome

Updated on April 25, 2011
L.O. asks from San Jose, CA
36 answers

Hi Moms. I'm 14-weeks pregnant and had a first trimester screening done for birth defects. Was called in to meet with a genetic counselor who informed us that there is a 1/9 chance our baby has Down Syndrome (DS). I am a pediatric occupational therapist so know a bit of what to expect should we have a child with DS. Our counselor has been very sweet and is trying to sound very optimistic with us. Of course I am concerned, but because terminating the pregnancy is not an option for us and we do not want to place added risk to the baby, we will not be having an amniocentesis. (I understand they are considered very safe and definitely don't judge others for having them). Perhaps I am scared to go to that place of worry and fear, but I am feeling uncharacteristically calm and at peace. I do wonder though if the genetic counselor is sugar coating things a bit in attempts to comfort and ease us. Because I have been in a similar profession, I know that heart all too well. However, I do want to be realistic and if my chances are higher than what she paints it to be, I want to prepare myself so that when I meet this baby, that time is not tinged with disappointment, sadness, etc should he/she turn out to have DS.

Here are a few of my numbers:
Nuchal traslucency measurement: 3.2mm
hCG: 1.56 (don't know the units)
PAPP-A: 0.34 (don't know the units)

These 3 numbers combined are correlated with a DS diagnosis. Any other moms out there have an increased NT measurement, high hCG and low PAPP-A have stories to share? We will be having another blood test done in a few weeks to determine whether the chance of having a baby with DS goes up or down. Based on that result, we may be offered a level 2 ultrasound (which we would do) and amnio again (which we wouldn't do). Thanks in advance for your time and thoughts. :)

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So What Happened?

Thank you moms (can I call you friends?) for your support and prayers. They mean a lot. I actually came across Baby Nella/Kelle Hampton's birth story yesterday while surfing Babycenter and bawled and bawled while reading this touching story. I shared it with my husband and sharing in this mom's pain/joy has been therapeutic and reassuring for both of us. I stalked Kelle's blog in between my 2-year-old's naps all day yesterday. What a beautiful and perfect family. I do agree with many of you that no matter what the outcome, we will come to love this child the same. I know this will take tears, support and encouragement... whether the baby has an extra chromosome or not. That's how it's been with my typically developing 2-year-old of a wild man. :)

I know this is not really an "update" per se. Just wanted to say thank you to everybody. Will update with more concrete news following our upcoming blood test in a few weeks. Huge blessings to you all. :)

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answers from Provo on

I don't know what the numbers mean but I just want to offer my support. I work with special needs children and the down syndrome children are very loving and take a piece of my heart daily. There are so many school nowadays that deal with these children and can bring out the very best in each one. Most of them are very high functioning. My hugs and kisses to you both. A positive attitude while you are pregnant is so important and a special needs child can make you grow in ways that you never knew possible.

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answers from Boston on


Emily Perl Kingsley.
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

33 moms found this helpful


answers from Fayetteville on

Reading some other responses, I want to say, gently, that it doesn't really help when someone else says "I had bad tests too but my baby came out fine." Some babies do not come out fine, there is no way of knowing until we actually KNOW which statistic our family will fall into. Reassuring a worrying mother that your baby was born perfectly healthy is akin to telling a woman whose child has just died that it's ok, because it was meant to be. Even if it seems comforting, it simply isn't.

Now, my personal advice as a special needs mom. If your child did end up having special needs, it would be good to know as early as possible. Not because you have to terminate or because it would change the outcome, but it would give you time to grieve the child you lost - the healthy one - and come to terms with being that special needs momma. It is absolutely heartbreaking and life changing when your supposed-to-be-typical child is not typical. I still struggle some days, 18 months after my son was born and suffered a birth injury that left him with cerebral palsy, understanding that it happened and coping with why and how and what-could-I-have-done-differently. My heart still breaks to think about the difficult future he can have, the difficult present he is going through, and I don't think that heartbreak will ever stop. I found out too late that there were measures that could have been done at birth to lower his chances of disability. It hurts, as his momma I want to do everything in the world to help him and make his life easier, and if I had had the time to prepare prior to his birth, I could have been way ahead of the game, so to speak.

I would encourage you to get further testing done to know for certain. Amnios truly do have a very low risk - I had one, it wasn't painful and nothing bad came of it. If the answer is negative, you can put this stressful worrisome burden out of your mind for the rest of your life and enjoy your typical pregnancy. If the answer is positive, you can grieve (as you will need to, I promise you) and educate yourself on how to be the BEST mother you can be to your baby, get insurance referrals and therapy lined up for whatever special care he will require, and you can start to move past those difficult things, so that when your baby is born you can enjoy every moment and know that you did every thing you could to ready yourself to be the best mom possible.

Whatever you do decide, I wish you encouragement and strength and a strong heart. Joining the ranks of special needs mothers introduces you to a very exclusive club that lasts a lifetime and will give you rewards you've never even dreamed of.... hugs to you.

10 moms found this helpful


answers from Pittsburgh on

Well you have a 1 in 9 chance of having a child that will touch you like you never thought possible then.

No hi tech experience here or "numbers" advice.

I was 39 when I delivered my son and I declined ANY and ALL tests, etc. because like you, I knew I wouldn't abort. I also know that God doesn't make mistakes. With children or with choosing their parents :) All the best!

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answers from Joplin on

No advice just sending prayers and love your way, thank you for choosing life.

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answers from Sioux City on

My little girl was DS. She passed away from complications in the pregnancy. It was a problem on my side not hers. I would love to have raised her. I want to say congratulations on your pregnancy! You are already a wonderful Momma and this little one is going to be a blessing what ever the case may be. How wonderful to hear a mother say that terminating a pregnancy is not an option. It makes me cringe each time I hear it because I would have given the world to have been able to bring our little one home. I will pray for the best!

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answers from New York on

You brought tears to my eyes. I think you are calm because you know that
no matter what your beautiful little baby will be so very special with or without DS. I worked with Downs children, as I am sure you did, and found
them to be wonderful, loving, happy children. Some have medical issues
some do not. God has given you a gift and you will embrace that gift. If your baby does have DS try to find the poem I think it is called "Holland".
It tells about a couple who were planning a trip to Paris. I mean they
spent months reading and researching Paris and were so ready to go.
However, on their way to Paris, they were detoured to Holland. Initially they
were upset about this, but once they got there they realized that Holland
had such beautiful things. They loved everything about it. The flowers the
weather the people. We all have a plan but sometimes it does not always
go the way we want it, but in the end we are happy. May God Bless you
and your little one. Hugs to you.

7 moms found this helpful


answers from St. Louis on

Oh god, hugs!! This is why I wouldn't let my OB do anything that would tell us genetic issues. I knew I could never terminate my pregnancy and didn't want to spend my pregnancy under that kind of stress.

I also wish I knew what all those numbers meant. Sorry.

I don't know if Autism spectrum is equal to DS but I can tell you I never thought I could handle a special needs kid. I can, you can, funny thing about kids you dig down inside and you find what you need to move heaven and earth for them. I wish I could offer you more than support but that is all I have.

6 moms found this helpful


answers from Omaha on

I had a quad screen come back 1/80 chances for Downs. I don't remember my other numbers, but I had a 4D ultrasound and all other aspects the doctor and u/s tech look for were good.
I am glad you feel a sense of calm because these tests are very often skewed all the time. Amnio was not an option for us either. My daughter is perfectly fine and turns 2 on Monday!
A friend of mine has a daughter that had a situation similar to yours. Her doctor, specialists and a neonatologist actually urged her to abort because her numbers were so questionable they didn't know if it was downs, CF or some other disorder. They too felt their baby was a gift from God and chose not to do anything, but have faith. They have the most beautiful and smart teenage daughter today. I am sure you will get many testimonies in response to this post that these tests are not always accurate for whatever reason, so take comfort in that and try not to worry throughout your pregnancy! God bless and lots of hugs for you!

5 moms found this helpful


answers from Dallas on

I disagree with Julia here, COMPLETELY.

I absolutely respect your decision not to have an amnio. What would it change? You're keeping your child either way, so why do the amnio? What benefit would the knowledge give? To prepare? Prepare for what? Nobody is ever prepared for a normal baby, let alone a special needs one!

L., congratulations on your coming little one. I do not have advice or experience to share, except that God knows what he's doing and you will get the baby you were meant to have. It's amazing that you are so at peace. I think it's because you already love your child unconditionally!

All the best to you!

4 moms found this helpful


answers from Memphis on

I know that it's worrying and scary to see odds like 1 in 9 chance of DS or something bad but I think it always helps to turn it around. You have an 8 in 9 or 88% chance of having a baby that is fine - way better odds than what you would get in Vegas. I had a friend who got pregnant unexpectedly at 47. Her chance was 1 in 25. Her son was perfect, no genetic problems at all. I don't think your genetic counselor is just being kind, she's focusing on the fact that the odds are still in your favor even if they are not as good as they could be.

Your dilemma is exactly why I refuse all screenings. My husband and I would not abort and are very worried about the risks of an amniocentesis. I could not handle the anxiety of a higher risk for the rest of my pregnancy so I choose blissful ignorance. I do have the ultrasounds though.

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answers from Washington DC on

Two of my friends had this testing done and both said they could have a DS baby. Neither of them had an amnio either. In the end neither one of their babies had it. I refused the test with both of mine b/c my dr told me the accuracy of the testing is not that reliable. Try not to worry. Easier said than done I know. Just remember, in the end you will have exactly the baby God has intended for you to have and you will love her/him no matter what.

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answers from San Diego on

I had a 1/36 on my Alpha-fetoprotein with my second child, a 1/3600 with my first so we were scared. If we are talking about the same test it still meant we had a very high (like 96%) chance of having a completely health child. He came out just fine. If it is the same test, this test has a lot of false possitives. The scores also include your weight and your age and both of those factors increase your odds of a false possitive. We did chose to do an amnio not for termination reasons, lets face it, we knew there was a real live person with feelings in there and the amnio wasn't until 21 weeks. We did the test for peace of mind and so we could prepare our older child, ourselves and our family for what might be. I worried if my son was born with Downs then the beauty and joy of the entire birthing process would be marred by my internalizing and coming to terms with that perfect picture we can get in our head of how we think life should be. I hope you get what I mean by that. I wanted to know so I could be prepared and then just be happy to meet my baby, special needs or otherwise.

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answers from Chicago on

Hi L.

I'm sorry you are going through. I'll add my prayers to the pile that everything turns out well for your family. Your baby is lucky to have you as a Mom :)

I stumbled upon a blog a while back and it has quickly become a favorite.

Kelle is a Mom and photographer who documents her daily life with her husband and two younger daughters, one of whom has DS. Find the "Start Here" link on her site to read and see the birth of their daughter Nella. It's a beautiful story, very honestly written and photographed. She did not know Nella had DS before her birth but said she knew the moment she laid eyes on her. The moment was photographed by a friend. You can't help but fall in love with this little girl and her family. If the news continues to point to DS for your baby it might give you encouragment to see how another family dealt with it.

Keep us updated! But I'm betting this was all a big scare for nothing. Take care

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answers from San Francisco on

just to mention: i don't think amnios are that safe, actually. i support your decision not to do one. good luck with everything.

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answers from Atlanta on

I will never understand not having an amnio. Particularly given your profession you should know that they're not used only by people who want to terminate. It's important for you and your doctors to be prepared. Do you really want to spend the next 6 months this worried and stressed? That's awful for you and your baby. I had an amnio as did most of my friends who have kids. Plenty of people have them just so they know what to expect and prepare for. Good luck.

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answers from Washington DC on

After my blood work at 11 weeks, I had 1 in 11 odds myself, but a normal lev 2 ultrasound (I was high risk). I was a basket case and there was no comforting me. There is truth to the thought that this also means there is, in my case, a 10 in 11 chance of no DS. I had a CVS done because I had to know for sure. I couldn't go all those months not knowing. Our daughter did not end up with DS. I am sure your counselor would not lie about the odds one way or the other, but I think you need ot look at them both ways. There is a good chance this will not come to pass. I was told that high HCG levels which also caused my terrible morning sickeness played a role in the results. GOod luck an dyour baby is in my prayers.

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answers from Richmond on

have the doctor EXPLAIN exactly WHY your chances of a downs baby are so high, there has got to be something the doctor didnt bother to explain, remember the doctor is only working with averages and percentages, only a blood test will tell you for certain. my obgyn, dr hyde with va. phys. for women at jhw, told me my chance of having a downs baby was one in five,(we had a healthy, normal baby by the way), what he didnt bother to explain was the fact that he jiggled the numbers by decided to factor in my accident related deformed arm as a birth defect, which it is not. apparently birth defects in the mother supposedly up the chances of having a downs baby, the doctor further jiggled the number by claiming
that i was ULTRA HIGH risk because i was pregnant at forty and not at 20
demand some answers, then demand the blood test they will tell you for certain one way or the other, then go from there
more later, baby in lap
K. h.

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answers from San Francisco on

I second the motion to contact Parents Helping Parents in San Jose. Through the years of being a parent of a child with special needs (now 20 years old) I've met a fair number of people with Downs Syndrome. They are great -- worth knowing.
If your child does have Downs Syndrome you will probably be told to contact San Andreas Regional Center. They can help you find any needed services (ask Parents Helping Parents about this.)

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answers from Cumberland on

I don't know what to say except I will say a prayer for you.

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answers from San Francisco on

I had numbers that equated to a higher risk factor for a baby with DS. We had a baby girl with no DS after months of uncertainty. There is an amazing blog I follow called Enjoying the Small Things. In it is her story of having a baby girl with DS unexpectantly. It is such a beautiful Blog and a must read to ease or at least comfort you in your fears. Have your kleenex box handy. Best wishes for a peaceful pregnancy until your precious baby arrives.

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answers from San Francisco on

Actually there is a 1 in 6 chance of losing a baby after Amniocentesis. Also, many babies have been injured from this test. There are many times when medical staff tell a parent that the baby will likely be Down's S. & they are wrong. Lastly, Down's babies can be a beautiful blessing. It's all in how the family views the situation while raising the child.

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answers from Las Cruces on

I was 35 when I got pregnant with our third child. The Alpha-fetoprotein test came back high and I was told there was a chance of Down Syndrome. I too became very worried but my sister reminded me of her tests for her two girls were high also. Everything was fine. She said, don't risk the amnio, your going to have a girl, you"ll see. And I did! Beautiful healthy little girl. Don't worry yourself sick. You will have the baby you are intended to have. He/she will bring new experiences, challenges, rewards, and realizations that will enhance your life beyond belief. Enjoy your pregnancy and be confident God will send you the baby that you need in your life.

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answers from San Francisco on


I don't have any words of advice, but I just want to say that I am praying for you and your family to have a happy, healthy baby. I don't know if this helps or not, but I was told in my second trimester that my baby may have spina bifida- they wanted to do the amnio, I didnt want to. So we went with the level 2 ultrasound and that put our minds at ease. I was still nervous til I gave birth, but the u/s really helped calm me about the odds. Best wishes and try not to worry. You are going to be a great mommy!


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answers from San Francisco on

If you want to reach out and connect with support and other parents. Contact Parents Helping Parents, ###-###-####. They are a wonderful, supportive organization for all families of children with special needs.
I am a mom of a young man with autism and while I never dreamed of having a child with special needs as we were planning for our family, I have to say that is has been more of a blessing than a challenge in our life. I have learned things, met amazing people, changed my career and many other positive things as a result of my involvement in the special needs community.
good luck to you whichever path your life takes you

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answers from Erie on

I love how you wrote that you feel peace right now. That warmed my heart.
Having the ammnio doesn't mean you would have to abort right??? It would just give you the extra time to know your baby better, DS or No DS. I don't know how accurate or painful/invasive it is though. so obviously your decision.
I don't have info on the numbers you listed, but i don't see anything wrong at all about asking again to have the dr explain things to you. Some times we need to hear things a few times and in slightly different ways to really "get it". Don't be shy about asking.
Congrats on your little one :)

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answers from Kansas City on

It's hard to know. I know high percentage of babies with DS also have heart defects (I have a son with a heart defect, but not DS). They will probably be looking for that during the level II u/s. When they diagnosed our son's heart defect during an u/s they said it was not a defect common for babies with DS. ((HUGS)). My very good friend has a baby with DS and a heart defect. He is wonderful.

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answers from Pittsfield on

I think what Tiffany wrote was a very beautiful analogy!! :)



answers from Stockton on

Me & every preggo woman I've ever known personally had some type of terrible scare at one point or another during pregnancy.
You do realize that you have an 8 out of 9 chance that your baby will be "normal"???
From what I've learned knowing in advance will he;lp determine if you need a C-Section and have the right specialists on hand if they think your baby has a special condition.
Knowledge is power - however you need to balance it with faith or you'll drive yourself crazy.
BTW- all the babies in my life came out normal and strong even the ones that were labeled high risk. One friend was told her boy had Downs Syndrome and he was fine and ended up being very gifted( knew the alphabet at 12 months did algebra in 2nd grade speaks Thai, French and English etc. etc.



answers from Modesto on

Hi L.,
My heart goes out to you, having gone through a similar situation with my last child. We were living in Switzerland at the time and with the first sonogram, the technician detected a genetic anolmaly; a bubble was seen behind our baby's head. We were told we were required to have a placental biopsy taken (I don't know the term used here in the states) as I was 42 years old at the time. With the result of the test, we discovered that my daughter had Turner's syndrome (the opposite of DS as she has one fewer chromosome. Turner's only affects females). The advice of the genetic counselor was to abort, but like you, this was not an option. I, too, felt an incredible peace about keeping my baby and going about my pregnancy as I did all the others.
Was I worried about birth defects with all I read and all that was explained to me? Yes, but only to a minor extent. Once my husband and I made our decision, we just had faith that she'd be OK and that we'd face whatever we had to once she arrived. The result? Yes, she was born with an extra fold of skin on the back of her neck. Yes, she was born with the notorious Turner's ear (it looks inside out) which is now covered by her long hair, but it's the ear she calls "special" and that she'd never trade for a normal ear. Yes, her nipples are abnormally separated. She knows it, too.
What I can tell you is I've enjoyed every, single moment of my time with this wonderful, amazing child! I'm MORE than happy that I made the decision I made. At her present age of 10 years old, she is preparing for more hormonal testing to find out if she has ovaries and whether or not she will go through puberty. We are prepared to be given the answer that she will have to be on hormones the rest of her life. She is prepared to adopt if she can't have children of her own as an adult. It's all good. She's my angel-child and I couldn't love her more.
It sounds to me like you know what you're up against. I'm not a pastor, but I can sense that the peace and calm you feel is real. Your calm will be felt by your baby.
If you ever want to talk through any more worries, do make contact!
Good luck with your Joy-Baby!!



answers from San Francisco on

L., I do not have advice to offer you on your original question. I do want to share though, that even if you do have a child with DS, they are still a gift from God, a special and unique creation. I've had the blessing and pleasure of working with these kids in a school setting. I work for a school district as a Para-educator which is basically a teacher's helper and have worked in the special ed classes. These kids are the sweetest and most lovable children on earth. I'm sure I do not have the first clue in what caring for them 24/7 entails but I know the blessing they impart on my heart when I'm around them. I wish you all the best.



answers from San Francisco on

Try to take some solace in the fact that there is nothing you have control of in this situation. My sister has a baby with Williams Syndrome (which causes similiar development delays to DS). And of course he'll have it for life. He wasn't diagnosed until after he was 1. It was such a hard time for her and even me as an aunt. I think back now and wonder why I freaked out soooo much over it. He is getting special therapy etc. and he is such a joy!! It really didn't matter either way. My dad kept saying things to me like, "I tell your sister, if he has it SO WHAT! You remember so-and-so from the church [who had DS] and everyone loved him." I thought he was being so insensitive. I now see what he meant. You just do what you need to do for the child and that's it. It is a lot of hard work and emotionally draining but if my sister can do it with 9 other children, I'm sure you can too.
My mom was told my sister might have DS when she was pregnant and my sister was fine. I hesitate to even say that because you never know and I don't want to ignore the possibility there. I wish you a lot of strength!!! Just try to take it day by day. I definitely admire you for not doing the amnio. Can they even tell 100% with that test?



answers from Chicago on

Hi - I know you're still waiting to have your next blood test, but wanted to chime in with our story. I was given 1/54 results of chance of DS with my 2nd pregnancy. It was hard for me to focus on the fact that there was a 53/54 chance that our baby did not have DS. I totally respect your decision not to have the amnio and also your empathy for those who choose to have them. I personally wanted to know as soon as possible so that I could best prepare myself with research, etc. in the event that we were having a baby with DS. I chose to have a CVS around 12 weeks. I only proceeded with it because my OB - who I trust with my life and the lives of my babies, he's beyond amazing - felt very confident in their team at the hospital and did not feel that there was a prominent risk in having it done.

We met with the genetic counselor and learned exactly what it was in my bloodwork that produced the 1/54 numbers and exactly what they'd be looking for regarding the chromosomes in the baby's DNA.

Within 3 days we learned that our baby was genetically perfect and that we were having a girl. We were blessed beyond my wildest dreams. I am sending tons and tons of good thoughts your way that your result is exactly the same. In the event that your precious baby does have DS, I'm so glad you found Kelle's blog and have a perfect role model for taking one day at a time and realizing that your family is perfect, no matter how many chromosomes everyone has.

Hugs & hugs.



answers from Minneapolis on

Tiffany sums it all up. Working with kids with down syndrome/special needs is a lot different than being a parent to one. My son will be turning 12 in June, he does have Down syndrome and he also has a bunch of other problems some associated with Down syndrome and some that are genetic based. He is a lot of work, you look at life differently. My twin daughters who are 5 teach their friends about words hurting people and such.

Good Luck you can send me a message whenever if you need it.




answers from San Francisco on

I know this must be hard on you. I would pray and do everything you can to keep you and your belly healthy to have a healthy child.
I am a wellness educator and show individuals how to live in a healthy home. We are having an event in San Jose this Thursday evening and the speaker was an internal medicine doctor and he addresses the importance of a wellness home. He also has events on children's wellness. If you are interested in attending and would like to talk with him let me know and I will set it up for you.
Be proactive and stay strong.
God bless you.

N. Marie
[email protected]



answers from San Francisco on

First I have to wish you all the best with the future -- whatever it holds. I do agree with the mom who mentioned that preparing yourself mentally for a special needs child could be worth further tests. You said you have another child, so this will mean the whole family will need to be prepared and all work together to embrace the differences in the child and your family. I have a good friend who's daughter has CP and the amount of additional stress on that family has been overwhelming. I'm not sure what the other blood tests and scans will do, but hopefully they will provide you with answers.
Then I also feel the need to correct data that was presented below about amniocentesis. Yes, the procedure carries a risk which is actually improved based on going to a very experienced doctor. According to the Mayo Clinic, second-trimester amniocentesis carries a slight risk of miscarriage — between 1 in 300 and 1 in 500. Research suggests that the risk of miscarriage is higher for amniocentesis done before 15 weeks of pregnancy. For reference, this is the same rate of natural miscarriage during the second trimester.

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