I am 20 years old and 17 weeks pregnant. I got a call from my dr yesterday saying my quad screening test came back positive..with a 1:89 chance my lil girl will have down syndrome..I'm terrified!! Also the day I got the test the dr found a white speck in her heart..does this mean she has down syndrome? everything else measured fine..and looked great said my dr. I'm worried..any one have any help!
I never heard of the test you speak of. The test I was offered (as a mom of advanced maternal age) was an aminio. I told the Dr. no thank-you, I am a Christian and don't believe in abortion.
I was horrified when I found out my son had Down Syndrome on his first Dr. appt. after birth. But since then I realize how fortunate I am to have him in my life. I'm talking about love pressed down and running over !!!! You would have to experience it to understand.
My son had a small leak in his heart at birth but it fixed itself without surgery.
I do hate to say, At the time I was told my child had DS I felt like I gave birth to a monster that It would ruin my life. The opposite is true. He is the best thing that ever happen to me or anyone close to him.
I still need to hear form any family that has had the AI neck surgery. We are pretty sure we are opting to not have it.
hey I hear you this is my 2nd baby i am 30 they sent to have a 2nd sonogram becasue I have the symptoms and I am scared as hell but I dont believe in abortion but the only thing I can tell you is god is the one that decides who is ready and who he want to send this special kids to we only have to have faith...
I am 25, I had the same thing happen to me when I was 18 or so months pregnant with my first and only son. I cried every day for a couple of weeks, the worse feeling ever. I got 1:45 chance that my baby had down syndrome, big probability for someone my age. I declined a amniosenthesis, the ONLY thing that can give you a sure answer. I declined because it could be harmful to the baby and you could loose and perfectly fine chld. I wasn't willing to take that risk because i was going to thave him regardless. I have a stage 2 ultrasound and that put me in 1:100 I have a healthy a beautiful 10 month baby. I will never take that test again, its not going totell you yes or no anyways so why ruin your pregnancy with bad thoughts.
To both of you who refused an amnio, I agree with you, to a point. Some people look at amnio as a search and destroy mission - say, if the kid has down's, they abort.
My husband and I refused it when given 3 markers for downs with 1:10 odds. Believe me, we were devastated, but we won't abort, period. When we went to our next appointment and saw additional markers with some possibly life threatening right now, our doctor told us that treatment can vary depending on what the causes for such things are. Plus, we may change our delivery plan with the knowledge of what we're dealing with. For example, if the chromosone abnormality is not compatible with life, it may be best to avoid C-section.
With this knowledge, we felt we were faced with bad stuff and worse stuff. But we knew that doing the amnio would give the baby his best chance with treatment ahead.
I believe the Lord is in control, and that only he gives the keys to life and death. I know that this amnio will not change the Lord's plans for when my baby is received up into his arms. I also believe that he gave us doctors (Luke was a physician) to help us. I know my baby will honor him either in his life (I hope I'm blessed with that) or in his death. My heart goes out to anyone who is faced with trials like this.
Honestly; I dont know enough about tests and the like to help you with your pregnancy but I can tell you that I have a 10 month old son with Down Syndrome and if you met him your heart would warm and all your fears of the future would disapear. He's the most amazing person I have ever met! Just WOW!
If you do have a child with down syndrome it is because you are strong enough to be his/her momma! there is nothing you can't do and a child with DS is a Blessing!
check out my blog if you wanna see the lil bugger :D http://jesstool.blogspot.com
My wife is in week 20 of our first pregnancy. I am 36, she is 34. We are normal, healthy individuals. About 3 weeks ago, we received a call that we were “positive” for a DS baby after the quad test. After our own research, no thanks to the clinicians, we discovered that we showed an increased risk, NOT necessarily a DS baby. The good news was, we could live with that.
Our results showed a 1:5 chance for DS. Rather than tell us, “you have an 80% chance of a healthy baby”, we were told that we had tested “positive for DS”. How BS is that?! We went in for an Ultrasound. BTW, the DR hasn’t even made contact since the quad test. The RN was the one who called with the results. How tacky is that?! After doing a lot of research, we realized that these test produce too many false positives. We would very likely not have this done in the future.
While waiting 4-5 agonizing days to get the US, we decided that we things could be worse and hoped only for an otherwise healthy baby. The day of the US, the Clinicians were looking for the common markers for DS. Brain, Neural fold, Heart, Intestines, Simian Crease, Humorous length. . .all good. Femur was a few days short in terms of development. I, of course, reminded the MD and my wife that I have relatively short legs and a long torso. . .laughs. Oh yeah, at this point, we find out it’s a boy. We hadn’t really given much thought to preference, just wanted a healthy baby. Also, the baby showed signs of “sandal toes”. This is where the big toe is spread apart from the others. I reminded my wife that I also have this. Had to show her when we got home .
Soft markers, but given out 1:5 risk, cause for concern. I, however, was happy to see no major or life-threatening conditions. I read somewhere that a husband asked if a DS child could still love, fish, and play ball. Hell yes they can. This was just fine with me! What a brilliant question!
We decided on an amnio. . .simply to be prepared and alleviate the stress of not knowing. I have to admit, it worried me to watch the screen as the needle went in. My poor wife jumped a bit, but claimed it didn’t hurt, “just felt weird”. Bless her for being such a trooper! I likely would have screamed just prior to vomiting or passing out! Luckily, the little guy stayed away from the needle (stranger danger). 24 hrs went by with little if any reaction. A little sore is how my wife describes it. Although not necessary, I made her lie down for 24 hrs and wouldn’t let her lift a finger. I know, I am way to hyper-sensitive.
We opted for the FISH test. . .we wanted answers. 3 days later, the genetic counselor called with good news! The FISH test showed now abnormalities. 1st hurdle: no birth defects on the ultrasound. 2nd hurdle, FISH test was good. Today is day 14 for the Amnio results. We had to put our 16 year old dog too sleep (Nanook). He was a true companion and will be missed. One of the worst days of our lives ended with a beautiful ray of hope. The Amnio came back with no apparent abnormalities! I think my wonderful dog knew today was a day to remember. It was the worst and the best day all in one!
For now, we are so relieved to be able to enjoy the rest of the pregnancy. I was so worried about my lovely wife and her well being during the last 3 weeks. No one needs that kind of stress. I am sure our baby will be born with a receding hairline .
I am writing this for all of you who find yourself in the same situation. Keep your head up and look for the positives. We were 1:5. It doesn’t get much worse in terms of odds. Having a false positive is no picnic, but in hindsight, we count each and every blessing as they come. As I type this, by beautiful wife is sleeping with our 2 cats and dog around her. They know she is sad and happy. I hope that someone will read this and find comfort in the fact that things are not always a bad as they seem.
-an over-reactive, scare-to-death, extremely happy, father-to-be!
I just read your reply and it made me feel - "better" I am 13 weeks pregnant (w Identical twins) and we rec'd that call from the RN +ve result for Down's RAtios - 1:70, 1:310. I was shocked considering our Ultrasound (for the NT neck measurement) was very favourable. We are meeting with a genetic counselor tomorrow. I am nervous. But I like the idea of another u/s and the quad screen test. I am not ruling out amnio. You are a really supportive father to be and congrats to you and your wife. My journey into the unknown has just begun. I have a very healthy 2 year old right now and I can't imagine what down's would mean.
My heart goes out to each and every on eof you and you are al imn my prayers.
I am having a somewhat similar experience. I am 40 yrs old (Air Force- active duty) and expecting my first child. During my first trimester screening all tests looked good. Mt NT measurement was at 087 and my overall risk for DS was 1:272. Trisomy 18/13 risk resulted in 1:150. These results were given to me before I departed South Carolina in Aug 2010. I arrived in Japan in Sep, a month later., where they ran a blood test (independent from the first trimester screening) and the results were devastating My Trisomy 18/13 was 1:100 and DS risk read 1:16. Level 2 ultrasound showed no markers and now I am being sent to a special clininc to have an echo ultrasound done so they can take a closer look at the heart. I am worried sick. My genectic counselor in S.C told me that both first and second trimester testing shoudl have been combined to show a more accurate rate of risk, however, that was not done. I am 28 weeks pregnant and opt not to have the Amino. What pisses me off even more is that the clinic here in Japan had the results from my second trimester screening since Sep 22 and are now just giving me the results. Also, according to the dates, I can tell that the Level 2 u/s was not included in the Second trimester screening results.
I wanted to reach out to all of you here or anyone who finds themselves in the confusing world of genetics or Ds testing. After having a 1;385 risk for my age, we shocking learned that we were having a son with Ds. (via Amnio). Today my son is 16 months old, very typical, healthy yet has Down syndrome. I run several support groups, information sessions and answer m any questions about testing from risk to false positives and negatives and also different screening and testing methods.
I certainly know what it is like to go through the testing and in fact as I write today, I am going in for an NT scan as I am 11.5 weeks pregnant with out 2nnd child. I have been there right to the discovery. Please let me know if I can help in any way. Feel free to message me at anytime.
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
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Pregnancy: June 2011 Community Leader
Please know that "screen positive" does not mean your baby has DS! My husband and I went through a very scary time when my 2nd trimester results came back "screen positive" at 1/100 chance. Now, I know that means just a 1% chance of having DS, but coming from my initial (1st trimester) screen at 1/400 -- that confused and scared us. After tons of research and then our amnio results -- negative for DS -- we've concluded that the screening tests cause more worry than necessary. I know that screening gives a lot of people peace of mind, but please know that even if you get a 1/5 chance -- that means there's an 80% chance your baby will not have DS.
I know exactly how you feel. I was 20 with my first pregnancy and the first half of my pregnancy went fine up until I went in to find out the sex of my baby. Several days after the ultrasound, my doctor called me telling me that there were some abnormalities in my sons heart and stomach. He then recommended me to a facility that specialized in these types of suspicions for abnormalities. I went for another in depth ultrasound and they confirmed the abnormalities. The issues that showed up on my ultrasound were issues that were seen most common in babies with down syndromes (I.e congenital heart failure and abdominal issues). They then highly recommended I get an amnio to see if, infect, my son had downs. A week later I had gotten phone call telling me that it my son did have down syndrome.
I have never heard of the specific test you are talking about, but all I can recommend is getting an amnio done. It's the most accurate way to tell if your child will be born with down syndrome or not. I am 21 now and my little boy has had already 3 surgeries and is still awaiting one more before he can come home. He's 10 and a half months and has never been home. I would not change this experience for anything. My son is such a joy to be around and is ALWAYS happy, even when he's in great amount of pain.
If, by some chance, your little one does indeed have down syndrome, think of it as a blessing. They are amazing children and grow to be amazing human beings. I can relate to what you are going through being as we are so close in age. I am here fir you, and anyone else for that matter, if you need any advice or help at all. Keep your head up!
i have an little one year old boy..delightful little thing.. i dont really think of his with ds.. i didnt get the test... before mica was born his father and i watched a show that was a coming out ball just for autistic and downies... we cried, it was lovely to see them all so happy.. thinking how strong those parents were and hard it must be for all concerned .. we talked and said we couldnt do it emotionally, be those special people those special people they need and we said we'd b strong enough to give the baby up for adoption..... now when i held that little and he was 5pd boy. there is no way i could give him up and im having my fourth child in 3mths ... i dont care if it is or not.. and i still dont think im special enough to guide this boy into manhood
On tuesday I received a horrible call that my quad screen came back positive. My doctor told me in the worst possible way and told me I had to have immediate amniocentesis and must see a genetic counsler. It sounded like there was no hope for us and our precious little one. I couldn't get any answers out of him. Originally, I was able to obtain an appointment on Monday. However, there was a cancellation today (Friday) and they were able to get us in (3 days later). This way I didn't have to suffer the weekend. I was in tears throughout the entire day after I heard the results and neither my husband or I could sleep. We were a wreck. I couldn't believe this was happening. Either way I would love my baby and would want to continue with the pregnancy. It is just so sad because the world is already tough enough without having a disability and was afraid my little one would suffer. Downs children are amazing and wonderful, but I am also a health care professional and have seen some really sick down's children. Some are highly functional and others aren't. Like I said, I would love my child regardless, but I did not want him/her to suffer in this world.
After reading the what to expect book (section on quad screens), it states that out of 50 positive tests, 1-2 are true positives, while 48-49 are false positives due to miscalculation of the due date. I have also read many posts online about false positives in general (not only due to miscalculation of due dates, but just because the test is not an accurate test). Some states will not even offer the test unless your >35 years old. In my case, my doctor never did an ultrasound to determine my due date and I had very irregular periods after discontinuing birth control. They based my due date on my last menstrual period. However, I was also using ovulation predictor kits to determine when I would ovulate. I remembered my dates the tests came back as a positive LH surge, which would make my doctor's calculated due date almost 2 weeks off.
I was able to go to my appointment with my husband. The genitic doctor was wonderful. First she told me about the high false positive rate of the test. Next, They did a level 2 ultrasound which was normal and determined my due date was off by nearly 2 weeks (as suspected), making my bloodwork normal. So this past week was one of the worst, but today was the best day! I don't know why they didn't do an ultrasound to begin with to determine the correct due date. I know in the future I will never get a quad screen again!!! This was so much worry and heartache, but am beyond thrilled things are okay. they still offered me amniocentesis, but I refused after learning this information.
I never post on message boards, but I promised myself, my family, my husband and god that I would in this case to share my story and give other women hope. I feel bad for any woman who experienced this or is going through something of this sort. Pregnant women do not deserve to go through this emotional heartache and this stress. I will NEVER get the quad screen again. My thoughts and prayers are with any woman who had to go through this or is going through this. Keep your head up. There is hope.
Honestly I know how nerve racking all of this information can be. I am currently 13 weeks pregnant & 20 years old. My youngest sister has downs & I can truthfully say that I wouldn't trade her for the world. I just started undergoing all of the tests for ds last week. So far so good. But I know that even if a test does come back positive I am a strong enough person to over come the challenges my family and I already faced past 13 years. Stay positive & remember the technology today is amazing but not always correct :)
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