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Category: Prenatal Testing

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

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.

This question was asked Feb. 18, 2013 6:27pm
Category: Prenatal Testing

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Answers (8)

Answered by a member - Feb. 23, 2013 7:50pm

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.

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Answered by BGGirl - Feb. 21, 2013 2:20pm

I had the NT testing and mine came back 1/49 for Downs which scared me to death. My DH and I talked about it though and decided that the risk of the amino was too great considering the risk of Downs was still only 2% at that point. (And really we wouldn't have terminated the pregnancy even if she did have Downs) We ended up having the MaterniT 21 testing and everything came back fine. Plus we had several ultrasounds where she didn't show any of the markers. I completely agree with everyone that the chance of the baby having Down's is so minute compared to the chance that the baby is completely healthy. I think numbers that they throw at you really end up making you stress over nothing more than anything else. If I had it to do all over again, I would have never had the NT test and then I could have saved myself a lot of stress and worry over something I couldn't change. But I completely understand how you feel!

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Answered by Carenda1219 - Feb. 20, 2013 2:24pm

Quad screening is based on:

Age of mother
Weight of mother
Ethnicity
proteins in the blood
Due date

This is NOT a definite yes or no and does not diagnose the issue. The quad is also known to have A LOT of FALSE positives. Mine came back positive and we have to go in for more testing and such. Our ultrasound back back with no identification of soft markers, and we found out we are having a little girl. So far everything is looking good.

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Answered by Rockabump - Feb. 19, 2013 8:54pm

My dr said that the quad test isn't always accurate. I would have the maternity 21 test done. Only worry when it is confirmed. Gl and HH pregnancy!

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Answered by -Lee-B - Feb. 19, 2013 3:08pm

Just keep in mind you still have a 66/67 chance of perfectly healthy baby. Try not to google too much, and when you do make sure your info is coming from very reputable websites. It is very easy to get overwhelmed by everything on chat boards and get false info.

Also (I studied Down Syndrome a lot in college and university and have worked with many children with it) if you find yourself looking up the lists of characteristics of down syndromes please remember that it is a big list but each child only shows SOME of those characteristics and in varying degrees so on paper it can look a lot more overwhelming than it is.

If it helps any, all the down syndrome children I have worked with have been the happiest, heart warming children. And they do become functioning members of their schools and society and can become independent adults. So, there are many positives as well. Don't get too bogged down by all the negative facts!!

But again, 66/67 chance of perfectly healthy baby!!!

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Answered by nurse_jenn07 - Feb. 18, 2013 8:28pm

I live in Canada and the only way to test for Down syndrome is the amnio! I don't think that a doctor would recommend it or do it just because your insurance covers it, they would have to have reason to do it. I have not been in your situation but if I were I think that I would have the amnio done.

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Answered by a member - Feb. 18, 2013 8:24pm

I'm so sorry you're going through this and definitely consult with the perinatologist - they can tell you if there is any less invasive testing than the amnio that could be done first. Sounds like the maternity 21 test could be a good option for you too.

Also, just try and keep in mind that this still means there is a 66:67 chance that the baby will NOT have a problem.

Good luck, I hope everything turns out ok.

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Answered by BGGirl - Feb. 18, 2013 8:12pm

I had the maternity 21 testing. It is a blood work test and can tell you with 99% accuracy if the baby has Downs or Trisomy 18. It can also tell you the gender of the baby too. It pulls out the baby's DNA from the mother's blood and tests it.

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