I am 29 years old. 1: 67 positive screen test for down syndrome. please anybody advic

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Hi I am 29 years old. I had positive result in QUAD screen test in 17 weeks pregnant. the result is 1:67 for down syndrome. I have not had any ultrasound scan till now. the quad screen test was based on the estimated delivery date. No one in mine or my husband's family including far far relatives also don't have any problems and even we both are healthy but recently i have hypothyroidism from last 2.5 years. After seeing the positive result I am totally devastated and don't know what to do. Doctor suggested me to consult perinatologist. Now i am very scared what they would say and about amniocentesis tests. Please advice me ur experience or any alternative blood tests to check further in houston, texas. Is there any chance that perinatologist tell me everything is fine just after they do the ultrasound or do I have to take amnio to be 100%. does anyone think perinatologist does the amnio just because it is coverd by my insurance. Any advice is appreciated.
 
im going through the same thing except mine came back for spina bifida im getting an ultrasound tomorrow to check on things did your doc offer an ultrasound? they should cause there are lots of signs they can look for with down syndrome in an ultrasound. also my test with my middle child came back at increase risk for down syndrome and she was just fine :) just remember these tests have a high false positive rate!!
 
Take a deep reath, Hun. First of all, those odds also mean 66/67 chance (close to 99%) that your baby is fine. When is your ultrasound? They should set you up with a counselor if needed to discuss further testing options. Ask your doctor every question you have, it's their job to answer. I am sure all will be fine.
 
I know it sounds like a high chance but try to think a out it in terms of if you could put 67 things in a bag 1 being yellow, the chance you pull out that one yellow thing is so low. Hope everything is fine Hun!
 
I had a 1:11 and did the MaterniT21 test and it came back fine. It's a blood test only, but you have to specifically request it. It extracts fetal dna from the mother's blood and tests that for chromosome abnormalities. I like it bc it's not invasive like the amnio.

Like the other ladies have said, the odds that your baby is just fine are a lot higher than the odds of he/she having down syndrome. Wish you and little one all the best.

edited to add: a perinatologist will probably do a more advanced ultrasound to look for down syndrome markers. If there aren't any, they could tell you that you're fine. I would think your risk for down syndrome would drop quite a bit. But you never know. And regardless of what they say, you get to choose to have one or not. I definitely do not think they would do one 'just because your insurance pays for it'. That would be highly unethical. Again, hope everything turns out okay.
 
I would listen to all of these other ladies...seems like the chances are still very low, but if you are still worried an amniocentesis would tell you for sure if you have anything to worry about. Do whatever your heart tells you to do. Good luck hun, I hope all turns out well! Also, I would get an NT ultrasound as well.
 
Hello
I'm now 20 weeks and at 14 weeks by quad test came back at 1:80 chance for Downs. We made the decision to go with an amniocentesis as I couldn't face the rest of my pregnancy worrying about the outcome. I just wanted to let you know that, if you google it, you may find scarey comments about amnio, but please be rest assured, it really isn't scarey. Ensure that you have an experienced practitioner (the more experienced they are, the risk of miscarriage lowers). They will spend a long time doing a thorough ultrasound to check where the baby is, all of it's measurements and that conditions are safe to perform the procedure. The actual amnio only takes about 2 minutes and is no more uncomfortable than a blood test. Then you just must take it easy for a couple of days and let everyone wait on you hand and foot.
It's obviously your decision whether to go ahead with further testing, especially invasive like a CVS or amnio. I just wanted to reassure you that it isn't as scarey as you may read. When my results came back all clear I really felt like I could enjoy the rest of my pregnancy and was such a happy time for me.
Good luck and please do keep us posted x
 
They told my friend her baby WAS downs. and asked if she wanted to abort while she was watching her baby on the scan screen... she refused the abortion ann went with the amnio and her baby didnt have downs.
 
I was 25 with my first baby and was 1:93 chance of downs we were told the risk of losing the baby after an amnio was 1:99 so bascally i felt with my numbers i was doubling the chances of something happening to my baby.. My worst case senario wasnt having a downs baby it was having no baby.. We had a detailed scan which checked for common downs signs and then basically prayed my sons a healthy 3 year old :) if you
Do decide on the amino you can ask the doctor their personal misscarriage rate etc its such a scary time hugs to you xxx
 
I'm so sorry and I know how you are feeling. Let me just tell you, this test is CRAP! It stirs up a bunch of worry for nothing. The quad test gave me a 1:10 chance and baby girl is fine. I had an amnio done because I wanted to know 100%. An ultrasound can help decrease your chances, but if you're like me and have to know for sure, you need an amnio or the Mat 21 test if they do it in your area. I chose an amnio because you can get the fast results in 24 hours and the Mat 21 test results take two weeks and the not knowing/waiting was just more than I could bare. Try to stay positive (I know how difficult that is) and remember how much of a bunch of BS this test is!
 
Hi girls,

Thank you all for your support and consoling words.

I consulted perinatologist yesterday. my ultrasound gestational age is perfectly matching with my LMP gestational age and the baby has grown perfectly for its age. doctor did not find any physical abnormalities which would occur for down syndrome babies, he said the baby girl is fine according to the ultrasound and the chance of baby having down syndrome has come down to 1:100, but he suggested to take the amniocentesis as that can give a clear picture and can give 100% Yes or No answer. He also said Ultrasound can only detect physical abnormalities not the baby's intellectual capability. But I declined to take amnio and asked him to give me non-invasive MaterniT21 test. I am waiting for the result now.
 
Hope everything works out for you. I refused all the blood work with this baby as it could cause unwanted stress like this. Even if baby had downs I wouldnt terminate.
 
Hi jcliff,
that's a very tough and great decision to make. I hope your baby is perfectly fine and healthy. I am proud of you.
 
Hi jcliff,
that's a very tough and great decision to make. I hope your baby is perfectly fine and healthy. I am proud of you.
 
Hi girls,

Thank you all for your support and consoling words.

I consulted perinatologist yesterday. my ultrasound gestational age is perfectly matching with my LMP gestational age and the baby has grown perfectly for its age. doctor did not find any physical abnormalities which would occur for down syndrome babies, he said the baby girl is fine according to the ultrasound and the chance of baby having down syndrome has come down to 1:100, but he suggested to take the amniocentesis as that can give a clear picture and can give 100% Yes or No answer. He also said Ultrasound can only detect physical abnormalities not the baby's intellectual capability. But I declined to take amnio and asked him to give me non-invasive MaterniT21 test. I am waiting for the result now.

My son has Downs Syndrome, he's nine next month. (I have three other children too)

You won't know anything about your baby's intellectual capability until thy are born and start growing up, whether they have Downs or not. The most capable people with Downs are more intelligent than some people who don't have Downs. Just like in the general population there is a huge range of intellectual capability, so there is with Downs Syndrome.

What I will say is having a child with Downs isn't really that different to having a child without it in a lot of ways. They are still just your child who is an individual and who you love and care for more than anything in the whole world. They just happen to also have Downs Syndrome.

Since I had my son I have declined screening for Downs in subsequent pregnancies and will do in this one, because I have realised screening is really a waste of time and to me miscarrying because of amino is far worse than having a baby with Downs.
 
You are a great mom. your kids must be very lucky to have you.

When I first heard that my screen test was positive, i cried a lot just because something was abnormal and I did not even know what down syndrome was then. The down syndrome word was totally new to me and i thought baby will be born with mental ******ation and physical abnormalities. I was totally gone crazy and then i started to browse, then slowly i calm down thinking that there won't be any major problems for a down syndrome baby. At this point what I can think is you are very knowledgeable and ready to take any risk for your babies.

Even I would not have terminated my pregnancy even if my baby had/has down syndrome, it is just the new word made me nervous. and my nervousness lead me to consult peri. Or may be I was not ready for the special kid. Because in my country I had never seen such babies around me or in my home town. But now I am totally clear what I want and I am relaxed.
 
Where are you from and is this your first child?
 
I am from India, currently live in houston, texas. We came to United states few years ago. we were in Michigan for few years and recently relocated to Houston. Yes this is our first baby and yesterday we came to know it is a girl. and we are very happy about it.
 
Hello hun my sister had a chance of ds with a blood test and she was scared her whole pregnancy baby was 9 pds healthY as can be no ds or any abnormalty's hes 6 now sometimes those test give false positives stay strong i know harder said then done im sure everything will be ok goodluck :)
 

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