Concern About Numbers from down Syndrom Screening

I also had a positive AFB test and I think 1 in 250 for Downs and my daughter did not have downs. This has happened to a lot of my friends and their is so many false positives.

I was 17 when I took the testing and was pregnant with my first child. I was told that my test had come back negative, but the numbers were a bit high for a girl my age. They never told me what my numbers were, I found out a month after my son was born that my numbers were high. I also have found out since that with a down syndrome pregnancy you have more amneotic fluid than normal. At about 4 months, I looked like I was having twins or more. I never went to any specialist. My doctors never warned me to anything. I think that because of my age they didn't think it would mean anything to tell me.

If you go to a specialist for things like this, they can do a full scan that can let you know if the child has any deformaties relating to anything that could be possible. I ended up getting pregnant almost 4 years later and went to a specialist and had the ultrasound done to see if I was in for another type of suprise. I luckily came out of that appointment with the knowledge that my second son was going to be healthy from what they could see.

I hope that you don't have the outcome you might be expecting. It may be good to prepare for that though. I got lucky. My son has mild/moderate downs and is doing very well. I am very lucky to be young and have a moderately healthy child.

I hope that helps. I'm sorry to hear that you have to go through something like this too.

Hi R.,
OMG!! I'm sure you are very nervous from this news!! It didn't happen to me but to my girlfriend. Her results came back at 1 in 77 and they had her go further with genetic testing after her AFP's also came back positive. She was 35 at the time. They found everything to be ok with the additional testing and basically told her only time would tell. Well, Mason is almost 5 and as healthy and happy as any child could be, no signs of downs at all. I'm not sure why those tests come back false positive sometimes but it sure scares people!!!
I wish you all the luck with your pregnancy and the baby!
Hope this helps!
N.

Ask the doctor what he will recommend if the results come back badly. If he offers abortion, don't even bother. First, they results can be wrong, and second, an amnioscentesis presents danger to the baby, and third, doing in your child really is not an option, even though others may really want you to.

Don't worry, I had the same thing and so did many people I know. My baby turned out fine and I had a 1 in 60 chance of Downs. Good luck and try not to worry, S.

hi,

I also had weird numbers from my nuchal translucency tests. Mine was last year. My numbers were 1 in 40 of a downs baby. My dr. suggested we skip the AFP and go straight to an amnio because if the numbers were weird from the AFP, you'd have to do the amnio anyway. Turned out everything was fine. I had a very big healthy baby boy in October 2007. He is perfect and very good! The amnio was very easy and then you know for sure and can prepare for the future!

Good luck!

R.,

On my 1st born at age 28 they sent us to a specialist for additional ultra sounds ect. and genetic counsling and wanted to do an amnio because the apf #s came back too high and the neck was very thick. I refussed the amnio because(possible miscarriage 1 in 100) the results wouldn't change anything, the Dr. tried to change my mind until I asked if they delivered the baby any differently he said no and I told him end of subject. My daughter is nine and w/o downs. They have only recently linked the thick neck with downs. But you must do what puts your mind at ease. My prayers are with you and yours take care,

J.

Hi R.,

I hope this email will reassure you a little bit. I got married when I was 36, had our first baby when I was 38...I am 41 now and had our 3rd baby in January....I know: they arevery close together! With all three of our children we did the prenatal screening, because I was 'old' when we started. With our oldest boy, the chances were 'elevated' already: 1:38, then with our girl that is our middle child, it was 1:19 al of a sudden, scared us, had more testing done, which made us more insecure, she was perfectly healthy as well...With our third baby, a girl again, I expected the numbers to be higher even, because I was a year older again... but the numbers went down: 1:28....still elevated though...Another perfectly healthy baby girl....
We learned how not to worry anymore: obviously, there is a high false positive rate.....We would love to have a fourth child, and if it happens to have Downs, so be it...I will ENJOY my pregnancy, instead of worrying all the time....After all: a baby with Downs is JUST as welcome!

hope this helps you, Enjoy your pregnancy, and try not to worry to much!

E. N.

Hi R.!

When I was pregnant with my second son, he was 1 of 35 for Down Syndrom also. I know your scare. I know your shock. I know "how lucky we are" to have had other healthy children first.

The only way for my husband and I to know for sure, was to have an amnio done. I thought if our baby DID have down syndrom, then if I knew ahead of time, I would be a better mother from the beginning for him, instead of going through any sort of "depression, or shock" when he was born.

I took the amnio and had to wait 4 long weeks for the results. Crying and praying every night.

Then finally, the phone rang and it was the Doctor's office. They got the results back.....

"everythings' fine" the nurse said They acted like it was "so routine" to call a mother to tell her that her baby is NOT a down syndrom baby. I'll never forget..I was home alone, and felt like I suddenly couldn't breath. I had to ask the nurse if she was CERTAIN the result were mine, and there could be no mistake. After 4 weeks of waiting for the results, I was so prepared to have a baby
born with down syndrom.

Anyway, the only way to truly know if your baby has down syndrom,is by having an amnio.

I was very lucky, and I am very thankful for it. I have a healthy little boy who's now 5.

I wish I could say, "It's ok R., don't worry, everything will be alright"......But it doesn't feel honest.

But I can say, "I'm sorry you're going through an emtionally difficult time right now. I know you must be very scared. Please remember that God will never give us something we cannot handle. And God also needs a place where his most precious Angels can live....You may be that household."

R., I'll be thinking about you alot over the weeks. I hope everything works out for you. No Matter what the outcome....you will be a blessed, beautiful, and loving mother to 4 wonderful babies.

:o) N.

Why don't you just skip the AFP and do amniocentesis? It is a very conclusive test. It is a genetic test (problems in the genes) and Downs is a genetic condition. In addition you will know the sex of the child 100% if you want to (you don't have to). I had an amnio with my first child at age 35 for my own peac of mind - all was fine. I am now 38 and pregnant with our second and scheduled for amother amnio. I feel it is a better test. Is sounds horrible to undergo but really you just experience slight discomfort. You would need to schedule it soon as it is best to do around 16 weeks or so. Regardess of the testing you choose -GOOD LUCK!

sweetie hang in there! i had a 1 in 84 score and i was 28 at the time. we went ahead with an amnio. and those results came back fine. but now i am pregnant with baby number 2 at 31 and have my blood tests tomorrow. i can't decide whether to go ahead with the tests or not. it wouldn't change anything thing for us, but the i think being forwarned is forarmed. i guess i wouldn't be worrying now if i hadn't had such a scary experiance the first time around. anyway.....my doc said to me that the number means that if you had this exact pregnancy 84 times only once would it be down's. and that's barely a 2% chance. so, 98% healthy baby. and that's seems good odds to me! but like everything else in pregnancy, this too is hurry up, and then wait! hang in there! keep your chin up! and big hugs!

R.-
I feel for you, it is such a stressful time in your pregnancy. Do you have an appointment with a genetic counselor? I would recommend speaking with one because she will be able to give you honest and accurate information about the screening statistics (false positives, etc.). Know that you are not alone- the test has about a 5% rate of positives, and most of them are false positives. The bottom line is that if you are the true positive, the statistics do not matter. Most likely your baby is perfectly healthy, but it is important for you and your partner to discuss how much information you want to know. If you would want to know for sure before the baby is born, you will need to do an amniocentesis (which has a very small risk of miscarriage). Ultrasound cannot rule out Down syndrome, unfortunately. Keep in mind that you are doing everything you can for your baby right now. It is scary what you are going through, but hopefully you will be like the many women who have responded who have had false positives. Good luck!! (If you need a referral to a genetic counselor, let me know)

I have had three healthy children, never once taking the tests for down syndrome. I believe that life is a gift and God knows what we can handle. Whether you are person of faith or not, run with your heart. You know the joys of motherhood outweigh the tough times. My prayers are with you!

C. :0)

I had a similar situation with my daughter (now almost 8mo). My US NT looked great but when paired with the BW, it came back high for my age (I was 38 at the time). I did not do the AFP but instead waited for the level II US to check for markers. If we had seen any, we would have evaluated whether to go forward with the amnio or not. She looked clean and we did not do any further testing. She is 100% healthy and normal. I know it's a stressful scenario. My best friend (1yr younger than I) had a 1 in 35 chance and her daughter (now 2) is 100% healthy and normal also.

Good luck!

i don't know if this will help or hinder, but i am one of the folks that got a false positive from the initial blood test. i knew though, in that way a mom knows, that it was false. i refused the amnio, and did not do any further bloodwork. for us, the test was done in the wrong week of pregnancy, and i was 27 and so not as high risk.

I did not do any other procedures and went along like it was a normal preg. it was fine. of course, i also KNEW i was having a boy. well, savannah may be tough, but she is all girl. so, you have to do some careful thinking. its hard to know what to do.

Hello R.,
Before agreeing to any more tests, I suggest that you and your husband have an honest heart to heart talk about how you will react and what you will do if your baby has Down's syndrome. It seems to me your doc is creating high levels of anxiety by all the tests and you are correct, the results might not be accurate.

I teach HypnoBirthing, a program of lovely self hypnosis for child birth. You are an experienced mom so you are already aware that your wonderful body is capable of birthing babies. Contact me through Mamasource or at ____@____.com to learn more about HypnoBirthing or Google HypnoBirthing to get information.
Bright blessings, S.

My doctor told me that if it were up to him, he'd never even offer that test because the false positives rates are 2/3. That's insane. Plus my husband and I were like, "What good would it do us to know or not know? It's not like it will change anything. We would still love the baby, feed the baby, clothe the baby, etc." Don't fret. God never gives us anything we can't handle. Plus, if you look at it strictly from a numbers standpoint, 1 in 78 aren't bad odds.

Good luck and God bless!!

I got pregnant with my 2nd son when I was 38 in 2003. The nuchal fold testing was pretty new so it was never recommended to us. My AFP came back with a 1 in 14 risk for Down's. I was terrified to do the amnio because I didn't want to lose the pregnancy. Also I was trusting that God wouldn't give us anything we couldn't handle. DH was not okay with having a Down's baby, but I stuck to my guns. We did two 3-d ultrasound exams and he looked great except for a bit of excess fluid around the kidneys. Andrew was born perfectly normal, except for a bilateral pneumothorax (tiny hole in each lung at his first breath). He was under an oxygen tent for the first several days but didn't need a chest tube and came home at 10 days old. He is now a very active and head-strong 3 year old. The AFP formula is always skewed against us older moms, it's a screening tool, not a diagnostic tool.

Hi, R.,
I had the same experience with my AFP test, and my daughter who is now almost four is typically developing. With my son, when I had my AFP test, I was told that my first test had been taken much too early to have a reliable result. I went just when my OB told me to go, however, the genetic counselors have more specific ideas. I had an ultrasound with my first to find out for sure because I wanted to be prepared, as I work as a Special Education Teacher. Maybe you can check in with your care provider and see if you can get more info about the timing of our test, or even re-take it? Best of luck to you!
M.

I believe my daughter had this same thing happen to her twice and both times it turned out she had two healthy babies.

Good luck and may God Bless you with a healthy baby!

B.

You'd love the baby regardless, right?
I tested positive for severe retardation with my second.
Turns out that she was fine ~ until she turned 14!
Good Luck to you

Hi R.,

I know you have had many responses, I wanted to share something also. When I went in for genetic counseling we discussed the falso positives of the AFP test. That test was developed to find neural tubal problems not down syndrome. That is why there are so many false positives. I would venture that yours is a false positive, but if you want proof, go for the amnio. I had my first pregnancy at 39 and my second at 40. I had an amnio with both and did not even bother with the AFP because of the false positives. I have had two friends with numbers higher than yours on the test and both had healthy babies and an amnio to get more information.

Good Luck,
K.

I had the same issue with my first child. My husband was freaked the entire pregnancy and at first I was too. We also found two "slight" abnormalities in the ultrasound, I as 36 at the time, with no family history. I spoke with the doc and nurse at length and I was so angry they gave these type of results when the false rate is so high that it almost makes the test void in my opinion. After all the info and numbers were in, the chance of the test being false was about 85%. I decided to just have faith and that the results wouldn't change my pregnancy anyway. I opted not to do the amnio, because there is risk associated with that as well. In the end my daughter was perfectly healthy.

Only you and your husband can make the final call, but my experience turned out fine. Good luck, it is the hardest thing to think about! If you decide more testing, I am sure you are already aware of the time frames for the test, but check with doc the windows are pretty specific.

I had this with my 3 baby who is fine. I had my first baby at 34 and my afp test were ok. I was 41 when I found out I was going to have another baby...surpise. I went through all the screenings and had the amino to find out for sure. I have a good friend of the family who is a doctor and told me that you could have the amount of protent in your blood as you did with your other children but because of your age the horizonal line on there "charts" say test. Think positive and do what you think is right for your family. I know it is a stressful time.

Dear R.,
My heart goes out to you. It really does.
I have known women that refused the afp test all together. I refused any amnio tests as I had been so ill with shingles that literally almost killed me and my baby, so I fought for us both to hang on. If you do the testing and they can give you a measure of surety that something is wrong with your baby, then you have to deal with that emotionally. And the next step is to decide whether or not to carry the pregnancy to term. In the beginning of my pregnancy, tests showed it not to be viable. So, I had to wait to do more tests thinking that I was losing my baby. The first tests were no better. But then, the second tests showed that my pregnancy hormones had quadrupled and my baby was hanging in there. My pregnancy was torture, but I, for the sake of my own sanity, just willed us both to live. And it was touch and go. If they tried to save me, it would have harmed my baby. If they saved the baby, I most likely wouldn't have survived it. I just got it in my mind and heart that if this little baby could fight that hard to live, I had to fight just as hard. He was upside down and backward during the birth and has some issues shortly after. But today, he is a beautiful blue eyed blonde boy who at 12 outweighs me by about 20 pounds. He is the joy of my life. If I had ended the pregnancy, I would have missed the most amazing miracle.
It's a personal choice for you, R.. On one hand, get the tests because they could show something completely different that will alleviate your fears. Or they will show the possibility of something being wrong. And then you deal with it. In your own way. I am really hoping that the numbers were out of whack and your baby will be fine.
I know many down syndrome children and adults. They are bundles of love. With a cherry on top. I was just at the grocery store the other day and a family had their kids with them. Their little down syndrome baby was in the front of the cart. She was adorable and waived and said Hi to everyone who came past. Just like a normal little kid. My son goes to school with disbled children as they integrate them at our rural school. One little girl has been in a wheel chair all her life due to birth complications. She is beautiful and funny and a blessing. We've know her since pre-school and she is amazing.
I just want you to have positive thoughts for your baby and send all the love to your womb that you can. Don't give up on your baby and you will perhaps get a miracle in a way you weren't looking for one.

What you do is a personal choice. I hope you have a really strong support system around you.
Be sure to let us know what happens.
God Bless

I had a false positive with my first on the AFP (I was given a 1 in 120 chance of downs). We did an amnio and everything was fine. With my last child, we did the NT scan and it measured 3.1. Combined with bloodwork, we were given a 1 in 54 chance of downs. We did a CVS and everything was fine.

One of the doctors I saw said that her son had a 5.6 on the NT scan and he was fine! I know it's hard to hear that because you really don't know until you really find out. I wouldn't use the AFP as a determining factor myself. Did they suggest a CVS or amnio? Or maybe you're already doing one but you need to wait for it?

Hi R.,

Yes, after 35, AFP seems to have a lot of false positives. I had my fourth baby last October at age 40; a boy after 3 girls ages 5, 4, and 2.5. My AFP came back elevated but I kind of expected that due to my age. Between the blood test and ultrasounds, my risk for having a baby with Down syndrome went to 1 in 21. They told me the nuchal trans. was normal. I took the attitude that 20 in 21 babies are just fine, then. I declined an amnio because I didn't want to risk losing the pregnancy. I wasn't going to terminate even if we'd known beforehand. Well, my little Christopher does indeed have Down syndrome. We are blessed that he doesn't have any health problems so far (no heart defects etc). He is just a joy and so far, a pretty typical 7 month old. I know that with love and help from us and all the wonderful resources out there, Christopher will lead a full, productive, and happy life.
You can always get an amnio if you really want to know for sure. I just pray that if it were to come back that your baby has DS, that you would decided to have him/her and love him/her just the same. Forgive my forwardness in saying that. All babies are gifts from God and special babies have a way of bringing families closer together than ever.
If you want to talk again, please feel free to contact me.
Good luck in your journey and try not to let the numbers freak you out too much. Will you have another ultrasound at 20 weeks? I'd be curious to know what they see then...

Take care,
Susan in Granite Bay