13 answers

Test for down Syndrome Came Back Postive

My SIL is pregant with her 2nd baby. She had the AFP test and did not want to know the results of the test. They had a sonagram on last Wednesday, and it showed little brain funtion. However they baby is moving around while they were doing sonagram. That's when they told her the results of her AFP came back postive. She is very upset cause they were unable to tell her the information that she wanted. They have her going to another doctor on Monday. Will the holiday that's the earliest she could get in. Her first pregancy she didn't find out that she was pregant until she was 8 weeks from her due date. So far her first born is completly heathy. My SIL has hyperthyordism so I wasn't for sure if that could be part of the reason the test came back that way. Her husbands mom was telling her that her sister had four children and all of them came back postive but only one actually has down syndrome. It's not going to matter if it does she's already going to keep the baby. She just wants more information on the topic. We were also just wanted to know if this has every happened to anyone else.

What can I do next?

So What Happened?™

My SIL just got back from the other doctor that she was supposed to go today. THey were told that nothing is developed above the eyes, and she just has a brain stem. So they were told that they baby will be born blind and death. Will most likely just live a day to a week after she has the baby. The doctor is running more test to see if it will cause problems with any other baby's they plan on having. Please keep them in your guys prayers.

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False positives are common with this test which is why I chose not to do one. After a positive test, if there is time, the mom needs to have an amnio to confirm. If you are not planning on having an amnio and are keeping the baby, sometimes its more stressful get a positive result. I know of one person who had a false positive and had everyone in her family trying to get her to abort but she delivered a normal healthy girl. Basically its too early to know.

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Mine came back positive with my first, I cried and worried the entire pregnancy and then he was fine, so I opted out of having the test with my second. The only reason I would be concerned is because the ultrasound showed little brain function. That's what I would worry about, not the test.

I also had this test done with my second baby and it came back positive raising the likelihood of the baby having Down Syndrome. I then had a detailed ultrasound in which they found several "indicators" which further increased the chances, followed by an amniocentesis which indicated no genetic problems and a healthy baby. The AFP test can show false positive results and even some of the indicators on the ultrasound may be present when in fact there are no problems. I think technology is better at finding abnormalities but also causes more false positives since there are so many different things to look for. I hope everything works out.

Tiff- this is my first pregnancy, and my husband and I have went through the same thing just recently. i am 20 weeks pregnant but around 15 they did the blood test for down syndrome, and 3 days later the doctor called watning me in his office asap..... when i got there we wen straight to get un ultra sound and the doctor actually came in there to watch it.... afterward he told us that our test came back abnormally high... usually it comes back around 1 in 1100 for my age (23) and for someone over 35 or 40 it would be about 1 in 270, he told us that ours came back 1 in 10 which is extremely high. but in the ultra sound they couldnt see anything out of the ordinary. but we were sent to a specialist a couple of days later and everything looked good... they look for the thickness of the back of the head, the intestines( for white specs), the heart for any defects, shortness of the limbs, something with the kidneys, and to check and see if you can see teh bridge of the nose.... the biggest detector is the thickness of the back of the head.... my husband and i were completely frantic going through all of this and even though you can get the amnio test ( the only way to know for sure) our minds are a littel more rested knowing that nothing seems abnormal on him yet... and those test do have alot of false positives. i know this may not help much but it made me feel a littel more at ease knowing that someone else understood what we went through... hope this helps....

Someone correct me if I'm wrong, but the way my OB explained it to me is that the AFP doesn't have a pos/neg result but more of a result with odds...like 1 in 400 etc. If the results come back with higher than normal odds they do another ultrasound to check some of the markers like heart defects, etc. If need be they can do an amniocentesis for definitive results. I wish your sister the best of luck and healthy little one.

Mine came back postive with my second baby and I had to go see a genetics specialist and had a three d sono done and I also had a thyroid condition only when I was pregnant and everything turned out just fine. They did alot of sonograms through out the pregnancy to keep an eye on everything and then the last two months I had to do those non stress test twice a week. Just make sure the doctor keeps a good eye on everything and pray. Doctors I think now and days scare you more than help you!! S.

i as well remember my doctor tellin me that just because the test comes back positive there are still cases where the baby is born perfectly healthy. i just would say a lot of prayers and i will keep her in mine as well.

What Catherine said is right. The test is not a "positive or negeative" it just shows that you have an increased risk for down syndrome etc. This happened to me with my baby girl and she is perfectly healthy. We also had to see a genetic specialist and have a level 3 sonogram both of which only made me more nervous since the only way to really tell is an amniocentesis and we were not going to take the risk. It is a really difficult thing to go through but there is still a good chance that things will be fine.

My friend went through the same thing. She didn't know she was pregnant til she started having stomach cramps (labor). I don't understand how people not knowing if theyre pregnant. :) I wish your SIL the best of luck. Perhaps have her look up online and find out more info on that issue. :)

False positives are common with this test which is why I chose not to do one. After a positive test, if there is time, the mom needs to have an amnio to confirm. If you are not planning on having an amnio and are keeping the baby, sometimes its more stressful get a positive result. I know of one person who had a false positive and had everyone in her family trying to get her to abort but she delivered a normal healthy girl. Basically its too early to know.

I went through that once too and then told them they weren't allowed to run the test at all after that with my other babies. Things may be alright.

S.

My SIL had the same test. IT came back postive also. She had a normal labor and ended up having a healthy baby. Never understood why she had that test come back positive but my nephew is healthy.

I'm so sorry to hear about the test results -- the same thing happened to me with our second child, and we lived a hellish few weeks while we waited to see doctors and have further testing done. At the time, I did some research on my own, and found out about a test called FISH (Fluorescent in situ hybridization) you can read about how it works here: http://www.aneuvysion.com. It gives results in 24-48 hours, alleviating the agony of waiting the typical two weeks for traditional amnio results. It still requires an amniocentisis, but the faster results do wonders for worried parents! We wouldn't have ended the pregnancy either, but I'm a firm believer in having time to be mentally prepared and getting resources lined up if necessary instead of dealing with a surprise at a very emotional time. We did have to push to get the lab to do the FISH test as it's more expensive, but fortunately our insurance covered it.

Keep in mind, too, that the AFP is not very reliable -- it screens for several things, and there are many factors that can throw off the results. For me, it was just my age (39 at the time of testing). My results were "slightly" elevated, but we have a beautiful, healthy 18-month-old baby now! Best of luck to your SIL and the whole family!

The AFP test looks at a number of different possibly birth defects/syndromes---Did the doctor specifically tell her it indicatd an increased risk for Down's Syndrome?

I have also NEVER heard of anyone being told after a sonogram that their was decreased brain activity. I am not aware of a sonagram that does that-- though maybe there is something new out there. (I know with my kids they could show me blood flow to the brain etc)

There are 'markers' that can be seen on a Level III if present pretty much confirm the Downs-- but the only definititve way to say 'no' to the presence of Down's is to have amnio. (which has risks and requires yet another sono. --I had a heck of a time getting my insurance to pay for the additional sono! I kept saying "YOu want my doc to do the amnio w/out it????")

Was she pushed by the doc. to have the AFP test? I had an 'elevated risk' of down's with my first and refused this test with my other kids. (By my third I was refusing all of the tests and treatments...) I told my doc that I wouldn't be terminating my preg. so I didn't see the need to have the additional stress and/or health risk (b/c of my age it would have been likely that AFP would be 'off' and I would end up with amnio. recommended. After my sono. with #2 baby I had to fight with the high risk ob to NOT have amnio and he treated me really poorly.)

Please assure her that w/ the AFP test there are WAY more false positives than anything else. That is why it is a 'SCREENING' tool and not 'DIAGNOSTIC'. I know that age will affect the result..if preg dates are off that will affect it. I suspect that having a child with Down's in the family tree might also flag them to elevate the risk.

If she does have additional testing and finds out that her child does have some disability- she can use the remainder of her pregnancy to prepare. And if it is Down's ---there is so much variability in their abilities and so much more that can be done to maximize their abilities.

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