My first trimester blood work and NT was negative, but the 2nd trimester blood work says I have a 1:

lanniethomas · August 2012

I am freaking out from a phone call I received from my doctor this morning. My 1st trimester screening blood work and US were fine, but the second trimester blood work put my daughter at risk for DS 1:110. I am a nervous wreck. I am expecting a call from the genetic counselor for an appointment and I am at 19 weeks. I will probably do an amniocentesis because I don't want to spend the rest of my pregnancy wondering if the baby is ok or not. Plus, I need to know what we may be facing. I am nervous about the amnio and the slight risk that comes with it, but I am 43 y.o. and God blessed me with this pregnancy through natural conception. I have a 5 y.o. daughter and I had 2 miscarriages before her and 2 after her. This pregnancy is a total suprise. May God's will be done through this blessing He has placed inside of me.

kristin7701 · August 2012

I can understand your concern but try to remember that there is more than a 99% chance your baby does not have Down Syndrome. I see a maternal fetal medicine doc after my ultrasounds because of my age (41) and he said that the natural conception lowers your risks even further.

buggirl72 · August 2012

Have you thought about doing either the harmony or materni21 tests? They are just blood tests but have a high accuracy rating. My risk for downs was 1:155 (after 1st tri screening). I did the harmony bt because I was not comfortable with the miscarriage risk with amnio. I got the results back yesterday and my risk is now less than 1:10,000.

Also, 2nd tri screening is less accurate than 1st tri. Is it the soft markers from the scan (many go away) or was it from the blood work that raised your risk factor?

dukemeli · August 2012

Something similar happened to me except that my second set of blood work came back with odds of 1:15 for Downs Syndrome. Needless to say I was a nervous wreck. We went in for a Levl II u/s to look for marker's at 16 weeks. Luckily, there were none. We opted to do MaterniT21 as supposed to an amnio at the recommendation of my Perinatalogist and my baby boy is perfectly fine. No evidence of DS or any of the trisomies.

Remember that the odds are highly in your favor. I am sure that everything is just fine. Just remember to breath. Hang in there.

benoitfan · August 2012

What about the MaterniT21 or verify blood tests? They are diagnostic tests and non-invasive compared to Amnio. Also, can you got for your a/s now and can they look for soft markers while you wait for the amnio or other test results, this might give you some answers.

((HUGS)). Remember these results are just odds, they are not a diagnosis and the odds, while higher than you would like are still really good (99.09% chance that your baby is completely fine). Hang in there hopefully you get a firm diagnosis sooner rather than later. Prayers that your baby is perfectly ok.

lanniethomas · August 2012

Thanks for sharing that with me. I am scheduled to meet with the counselor on Monday morning. I will keep those good thoughts on my mind.

lanniethomas · August 2012

It was my 2nd trimester blood work. The 2nd trimester US looked good. Because of the way my daughter was positioned, the doctor asked me to come back in four weeks to look at the heart more closely. She assured me that it wasn't because she saw something negative, but the baby wasn't cooperating that day. How accurate are those blood work?

ReeceFamily · August 2012

1:110 was considered a "negative" screen (meaning a good result) when I got my first tri bloodwork? Especially given our age, (we're both 43), I think those stats are pretty good, much better than those based on age alone.

We followed up with the new non-invasive Harmony/MaterniT21 fetal DNA blood test rather than going for amnio, and got great/reassuring results.

I know how scary all this is, sending you good vibes/prayers.

newenglander71 · August 2012

We screened positive at 1:100 for DS during our first trimester and even though there was a 99% chance all was fine, we still chose to have a CVS because like you I would have worried for the rest of my pregnancy. Luckily everything came back normal. If you need to have additional tests for peace of mind, I say do it. It wasn't until we rec'd the results of the CVS did I really feel like I could enjoy my pregnancy.

hmontty · August 2012

benoitfan:
What about the MaterniT21 or verify blood tests? They are diagnostic tests and non-invasive compared to Amnio. Also, can you got for your a/s now and can they look for soft markers while you wait for the amnio or other test results, this might give you some answers.

((HUGS)). Remember these results are just odds, they are not a diagnosis and the odds, while higher than you would like are still really good (99.09% chance that your baby is completely fine). Hang in there hopefully you get a firm diagnosis sooner rather than later. Prayers that your baby is perfectly ok.

I also thought they were diagnostic, but my OB told me just yesterday that they are still only screening tests -- they have extremely high accuracy, but they are not definitive.

lanniethomas · August 2012

It was the blood work that raised my risk? The 2nd Tri US was fine.

lanniethomas · August 2012

Update: I had an amniocentesis on Monday and I also ordered the FISH test, so hopefully, I will know something soon. I decided on the amnio because the doctor saw two bright spot on the baby's heart. I felt at peace to have the amnio. I hate the waiting game though.

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My first trimester blood work and NT was negative, but the 2nd trimester blood work says I have a 1:

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