CVS and chromosomal microarray testing after blood work showed low PAPP-A — The Bump
High-Risk Pregnancy

CVS and chromosomal microarray testing after blood work showed low PAPP-A

So, I was surprised to see that there is no forum on here to discuss issues related to genetic testing and special needs babies. Given that older moms are higher risk and required to go through all this elaborate testing, I just posted this to the board for Pregnant and over 35, but I'm now realizing that this may be a better place for this topic. Sorry for the redundancy to anyone who traffics both boards. I'm hoping that either someone who has been through this can offer some wisdom or that there others going through this who will be looking to share their stories and empathize.

I am 37 and 13 weeks pregnant with my second child, another boy. A couple weeks ago, I did the MaterniT21 testing along with a blood test, and the MaterniT21 results indicated everything was fine. So, last week, I expected my nuchal translucency scan to be uneventful. The results of that were normal. Then came the big shock. I was brought in immediately afterward to talk to a doctor who told me that my blood test showed that I had a 1 in 8 risk of having a baby with Down's Syndrome because my PAPP-A levels were low (.37 MoM) and my hCG levels were high (2.24 MoM). Both the doctor and a genetic counselor I met with after felt my baby didn't have Down's but that another chromosomal abnormality was likely.

So, I had a CVS and agreed to a direct chromosomal microarray test from it. I got good results on the initial "FISH" test (indicating no Down's) but the other results were supposed to arrive in a week. I just got word that the lab didn't get enough of a sample from the CVS to do a direct array and has to do a cultured array, which means that I won't get the results for a month. As a result, I'm a total wreck. Anyone else been through or going through this? I feel pretty alone, so if you're out there I'd love to hear from you.

Re: CVS and chromosomal microarray testing after blood work showed low PAPP-A

  • I'm so sorry you're going through this. My circumstances weren't exactly the same, but similar. I'm a carrier for a chromosomal translocation so we opted to have a CVS done. During the ultrasound before the procedure, the doctor noticed an increased Nuchal translucency and said it was good we were doing the CVS because that often indicates an abnormality. Waiting was the longest two weeks of my life. I was absolutely miserable. I googled EVERYTHING I could find and found plenty of stories of women who had horrible NT scans and blood levels and their babies turned out perfectly normal. After a little over 2 weeks, we got the news that we are having a healthy baby boy. Do whatever you can to stay busy and keep positive. I KNOW that is hard to do but you will make it through the wait. Praying everything turns out well for you.
  • Thanks, sarajlj. The waiting is definitely difficult--I've become a bit obsessed with researching anything related to prenatal testing. It helps to hear from someone who has had a scare. I appreciate your kind words and encouraging story. I'm so glad to hear that you had a good outcome and are having a healthy baby. Congratulations, and best of luck with the rest of your pregnancy.
  • kamio92kamio92 member
    250 Love Its Third Anniversary 100 Comments 5 Answers
    edited May 2015

    Heya Crowdofstars!

    I went through this from week 12 right through to week 16. I was the same as you nuchal translucency scan was completely normal it was my blood work that was the issue. I had low Papp-A as well. Really low actually. I didn't realise how bad it was until I did some research.

    I opted to do an Amniocentesis instead of the CVS so we had an extra 2 weeks of waiting. An Amnio is done at 16 weeks normally. Waiting on the results was awful. They didn't think that baby had Downs - they were concerned about Edwards Syndrome which I researched constantly while I waited for the results.

    Try not to stress yourself out. I had a strange feeling that I wasn't going to get the best results when the nuchal translucency scan came around so I didn't celebrate the pregnancy at all. We kept it quite until I was almost 20 weeks in.

    I really regretted letting the stress and worry get to me. I tried so hard not to fall in love with my baby in case something bad happened. I didn't take any bump pictures and avoided cameras like the plague because I was afraid that being reminded of the baby would be awful if I lost her.

    We got the results back and everything was fine with bub. I'm not out of the woods yet and you'll probably find that if the results don't show any abnormalities that they'll do regular growth scans of bub from 20 weeks. I have to be scanned every 4 weeks and both hubby and I get really nervous before each visit because we are so afraid that it is going to be bad news.

    Low pappa-A can also suggest that your placenta might not be doing the best job. Talk to your doc though.

    Try and keep your chin up and stay positive. I really regret how I approached the first 20 weeks of the pregnancy.

    I'm 27 weeks now and I can't wait to meet my bub. I just had to separate myself from the doctors and their concerns.

    Thinking of you!!!

    [color=purple]Married July 2014[/color]
    [color=pink]First Monkey July 2015[/color]
    [color=green]Baby No2 March 2018
    ~Team Green~[/color]

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