Quad-Test Screen Positive

I tested positive with number 2. I was so freaked out, but finally realized I would not love this child any less if he was "different". That said, I was still relieved when the amino should it was a false positive.

I just went through this in my pregnancy. Like you, I was really freaked out when I got the call saying I tested positive. I was finally able to come to terms with my feelings and thoughts about it after a couple of weeks. I realized that the positive outcome was just a statistic based on my age (42), it just indicated a higher probability, and so far ultrasounds had shown the baby to be completely normal (have you had a nuchal translucency test done where they measure the back of the baby's neck which can be an indicator of Downs if too thick?). I also figured out what I would do if the baby had Downs. I knew I did not want to do an amnio test (small but possible risk of miscarriage) and, although not against abortions, realized that at that stage in the pregnancy there was no way I would terminate it, so no need for further testing. After discussions with the doctor we agreed to do intermittent ultrasounds to watch for telltale Downs signs - heart problems etc. Never had anything strange come up. I gave birth naturally in December to a very healthy baby girl (I did ask the question right after her birth!!) She is sleeping on my lap as I write this...
I really wish you the best. I understand the fear (and there were many tears). It really helped to understand where I stood with regards to the outcome. In some ways wish I hadn't done the tests in order to bypass the angst. Definitely have a good conversation with your doctor about it.

I'm so sorry that you are going through this. I don't have first-hand experience on this subject, but my friend Kim did last year. Her quad screen was also positive for Downs. She struggled too, but ended up having a perfectly healthy baby a few months later. Best of luck to you and your family.

We had a positive result as well. Lots of factors go into a positive result, we were told. Everything from age to where you are in your pregnancy. We were referred to the University of Washington where they did an ultrasound to check out the baby. That was the first step. There are some markers for Down's that SOME kids show with an ultrasound. Facial abnormalities and femur length are just two that can indicate downs. Once we got through the ultrasound, we were set down with a nurse who explained what the statistics meant and how at risk we might be for having a child with Downs. We realized that the statistics showed that we had a larger chance of having a miscarriage by having an amnio test than actually having a child with Downs. I was 34 when our son was born and he was just perfect. I understand your concern, especially if this is your first pregnancy. Just educate yourselves and have an ultrasound. It may show that you have nothing to worry about. It is a good place to start. It isn't the end of the world if your child has some kind of disability, either. There are lots of parents out there that can offer support in your journey. Be well and take a deep breath-

L.

I had the CF test come back positive, but upon further testing found out i carry the gene but not one that i can pass on. Worked with the speciailist at UW.
Best of luck to you!

Hi M.,
This is information that I copied from a website:
What is a screening test?
It is very important to remember what a screening test is before getting one performed. This will help alleviate some of the anxiety that can accompany test results. Screening tests do not look only at results from the blood test. They compare a number of different factors (including age, ethnicity, results from blood tests, etc...) and then estimate what a person’s chances are of having an abnormality. These tests DO NOT diagnose a problem; they only signal that further testing should be done.

I tested in the range where they recommemded futher testing. This created a lot of anxiety for me because I was 41 years old. With that alone, I was told all kinds of things that scared me. I went into my genetic screening appointment with a lot of anxiety. The ultrasound tech had many years of experience and walked me through all that she was doing during my ultrasound. On the screen everything looked fantastic...PHEW. I chose not to have an amnio at that time. Probably would not have anyway. With the amnio, so I was told, only checks for certain things. So it does not answer all the questions either. At delivery my daughter came out perfect! She is now 3 years old and fabulous. I enjoy every minute with her!! I think that these test are meant to be informative so that we can plan how things will be once our blessed gift comes to us. At the time we can hold them and love on them. I know my stress level wouldn't be any different if I had to do it all over again.
I wish you the best and I hope this helps.
Bless you and your bundle of joy!!

If you can talk to your doctor or a geneticist i think that will help. The thing with the screening tests is that they are looking at the likelihood that you can have a problem, not diagnosing a problem. How you proceed probably depends on exactly what your probability for a problem is, and you need a little bit more detail about the test results to know that.

I can think of four pregnancies i've known of where the results from the screen were 'positive' and all four resulted in healthy, normal, babies. In my first pregnancy the ultrasound revealed some abnormalities that could indicate downs, (e.g., positive), but my baby ended up being one of the ones that just grew out of the problem. In my second pregnancy the blood tests showed an elevated risk (positive result), but the baby was healthy.

In both cases we followed through to understand exactly what the risks were, and what the tests showed. In the second (more abnormal results) case we worked with a geneticist to decide what to do. Luckily, while the blood tests were bad, the ultrasound indicated a normal baby, so we took our chances. (In the first case the blood results were ok, which made us feel better about the ultrasound results.) My 1 month old is hale and hearty!

Good luck!!

I'm sorry for your fear. No one wants any kind of abnormal test result during pregnancy. Whatever the outcome, and whatever your choice is, please remember that Down syndrome is not the end of the world. I found out via amnio (after blood tests were positive) that my son would be born with Down syndrome. It was a horrible shock at the time, but he's a wonderful, cute, charming 8 year old who fits in perfectly with our family. Best wishes to you.

Hi,
I am pregnant, 40, and actually declined the screening, but during the process of deciding whether or not to do it, talked to a few friends who had positive screenings. Both are good friends and one decided not to do further tests and her baby does not have Down's. Totally healthy and a year old now. The second had further testing and her baby was fine as well.
My decision not to do testing was because I decided I wouldn't abort if we found out we had a baby with Down's. My dr also told me that the initial test for Down's more often than not gives a false positive result. And if I didn't want the further tests done, not to do the initial one at all.
Way too long an answer, but don't trust the first test, it's common to have a false positive.

I had a devilishly scary time with my second. The MSAFP was normal, but some "markers" during the ultrasound raised some flags. I was at Ft. Lewis, alone, when a retiring COL sat with me in his office explaining what this meant. Hubby and I went back the next day so he could see for himself what was up. Had the weekend to think about it then went ahead with the amnio. I was only 29, on my 2nd pregnancy; everything about our 1st was so routine I was bewildered for 2-1/2 weeks until the full profile came back with no genetic anomalies.

We delivered a healthy baby girl at 40 weeks on her due date, with NO complications. Unfortunately, the "20 week scare" kept us paranoid for about 2 years until we realized that all the thIngs we saw on the ultrasound were just things and nature would take its course. She's 8 now and perfectly healthy. Good luck working through this...there's nothing easy about worry.

Hi M.,
It's pretty hard to understand these tests. It's a screening test, not a diagnostic test. So the "positive" result just puts you in a higher risk category for having a Downs Syndrome child. This screening test is only about 60% accurate--you can get a false positive or a false negative. It hardly tells you any more than a random guess, but it can really scare you to get a positive. I think you should do some thinking (and talking with your partner) and figure out what you would do if you really were carrying a child with Downs Syndrome. Would you abort and try again? Would you carry and birth the child anyway? Depending on what your answer is, you have different options. You can get an amniocentesis to find out for sure, but that test is invasive and carries a small risk of miscarriage. Or you can do nothing and try to be at piece with whatever the outcome is. I would say that a huge amount of people have gotten a screen positive for Downs Syndrome child and went on to have a normal, healthy baby.
Good luck to you. Wishing you the best.

during my first pregnancy this test came back positive for down syndrome. We went for further testing and just by using the date of my last period vs. the measuring of my uterus for how far along I was...we were in the normal range not the down syndrom range. My son was born without any issues - he's healthy 15 year old now...

These tests have a high false positive rate!!!! When I was pregnant with my 2nd son my genetic test come back for spina bifida. I made them let me retake the test and it came back "normal". I had a level2 ultrasound and it was "normal". He was born healthy and is perfectly healthy 20 month old.

Two of my last 4 pregnancies tested positive. It was a horrible roller coaster ride the entire time. I now exactly how you feel. My last child (a boy) born in June of 2008, also had several "markers" on the follow up ultra sound as well as kidney "issue". I am very happy to report both children are free of any chromosomal abnormalities or a kidney problem. I would never even consider having a screening if I were to conceive again. It's unnecessary, invasive and so inaccurate. It will cause you more harm than good to worry and lose sleep over this. I hope this helps......