Bad News

Published April 30, 2015 by Jennie

Today we had our appointment with a Maternal Fetal Specialist. I am 11 weeks and 6 days. They took several measurements and all of that looked great. They then gave me the results of my genetic blood test which was not good. I have a heightened risk of trisomy 18 (which is fatal) and down syndrome. I also have low PAPP-A which officially means my pregnancy is high risk (it is associated with the placenta). It increases the risk of miscarriage, preeclampsia, fetal growth retardation, and a few other things.

My doctor said he does not think that our baby has trisomy 18 or down syndrome. The test shows our risk now is 2%. We also had PGS which is about 99% effective at identifying these chromosomal issues. He thinks my main issue is just low PAPP-A and the potential complications it can lead to.

We decided to do a CVS. It causes a miscarriage about half a percent of the time. If it does, the miscarriage will happen in the next 48 hours. I know it is a risk but I really feel like I need to know what I am dealing with. They said they can usually do a CVS vaginally but for some reason, they had to go through my abdomen. It hurt a lot. We will get preliminary results on Monday and full results in 10-14 days. They will also use it to conduct a chromosomal microarray test which is more extensive than our original tests.

Right now I am devastated. Even if the CVS test is ok, I am still faced with a bunch of higher risks. I was really looking forward to getting to 12 weeks (which is tomorrow) because the risks of so many things go down at that point.

84 comments on “Bad News”

  • Oh Jennie…this made me so sad to read. I’m going to send some positive thoughts and prayers your way. I know nothing I write will help but just know that I’m here for you if you ever need anything. No one should ever have to go through anything like this…thinking of you and hoping that your baby is healthy and will be in your arms soon..xoxo

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  • I am so sorry about all of this. I can’t imagine difficult this is for you. Uncle Phil and I are praying for you. Try not to give up yet Love you very much.

    Sent from my Verizon Wireless 4G LTE smartphone

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  • I’m sorry to hear this. Science is amazing and it can also lead to more stress. I can totally understand your devastation. It’s not the news you were expecting or wanting. As your Dr said there may be nothing at all wrong with your baby and you will have been stressed unnecessarily.

    The moment a women falls pregnant you open yourself and your heart to a magnitude of love and heartbreak.

    Even without any negative scientific results women can have a completely normal pregnancy and there can still be problems with your baby. Each It is a total act of hope and a leap of faith. You can have a completely normal baby and then after 1 month, 2 months, 2 years, 3 years, 10 years, 20 years, 50 years, there can be problems. Being a parent changes your heart forever. You will never be the same person again. You are a parent NOW, you are already making decisions and choices as a Mother. Being a mother is about making choices, hundreds and thousands of choices, sometimes daily!! From what medical interventions, to birth, to wondering if they are still alive in their crib, to feeding, to what time to sleep and how much TV they watch, it is endless and it can be very hard. Sometimes I find it hard to cope with how much I love my (ivf) 2year old and what if something should happen to her. It’s very important as a mother to find ways to connect to your feelings, fears and let go of the guilt – which unfortunately most mothers suffer from. Get as much support for yourself, talk to your baby and see what wisdom he shares with you.

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  • Jennie – try not to worry. I had almost the exact same situation. My Papp-a level was 80% lower than it should be, giving us a 1 in 80 chance of a chromosome problem. We did a CVS as well, and all looked great. Then we were just monitored for growth in case it was a placenta issue, and induced at 39 weeks as a precaution. I’m happy to say our little chunker was 7lb 2oz and totally healthy when he was born. Even though it was scary, I was glad we got those results so we could have all the extra ultrasounds and NSTs. I’ll be praying for you and your little boy. I held on to the verse Jeremiah 32:17 throughout my pregnancy. Are you going to Maternal Fetal Medicine in CLT? Please let me know if you ever want to chat, happy to help in any way I can. -Amber

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    • Thank you so much for this. I am already very familiar with trisomy issues but have never even heard the term PAPP-A before today. It would be really great to be able to talk to someone who has been through this. My email is jwienke83@gmail if you have time and are willing to chat. Also, I am at Novant Maternal Fetal Medicine (https://www.nhmaternalfetalmedicine.org/). It is in Charlotte. Are you familiar with them? I really like Novant. My regular OB/GYN already sent me a message today and let me know he will answer any questions and help me in any way I need. I feel like I am in good hands.

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  • Oh that is horrible news. I started crying reading your results. I am so sorry. I’m in sending you a big hug. I hope you make.it through with good results on the CVS test.

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  • My papp-a levels were also low at my 12 week scan, and they gave me similar warnings about trisomy 18/21, etc. after weeks of agonizing and waiting for more elaborate tests to come back, everything was fine. I talked to the genetics counselor a lot, and she told me that if there was a 2% risk of an issue, there was a 98% chance everything was fine. If someone told you it was 98% sure you’d win the lottery, you’d buy a ticket, she said. I know the unpredictable is scary, but try to focus on that 98%. And for what it’s worth, I did have some BP issues, but it was easily managed, and my baby is perfect and healthy!

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    • I really appreciate you sharing your story. My doctors are fantastic but it is scary when they start talking about stuff that I have never heard of before. I had never even heard the term PAPP-A before today. I am so glad you baby is healthy! I hope that is our outcome as well.

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  • I am so terribly sorry about the upsetting news you received. I pray that all of your testing comes back normal and that the rest of your pregnancy is healthy and happy.

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  • I am so very sorry for what you’re going through right now. I really hope that you get good results from the CVS. My thoughts are with you and yours. Be kind to yourself. ❤

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  • I know how scary this is for you, and couldn’t even begin to imagine the stress and heartache you must be experiencing. Ill be hoping upon all hope and praying that your little one is healthy as could be. Hugs to you

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  • I’m sorry about this upsetting news. All I can say is to remember that each of these results are just ‘risk factors’ it does not mean that you will have any of these complications, just that your chance of having them is higher. Wishing you luck x

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  • Oh my gosh, Jennie. How earth shattering for you. I can’t believe you came up as high risk for those chromosone issues after having PGS. It was very brave of you to have the further testing. Praying the results come in strong for you xx

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  • My heart dropped. I can only hope everything turns out great. I wish baby to be healthy. I’m really sorry love. This sucks.

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      • Stay strong! Statistics can only be so accurate. A friend of mine has a degree in stats and she says it can only be so accurate. Which made me feel better during my high risk pregnancy.

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      • That makes me feel better. I am actually working on my PhD in Policy Analysis and I use statistics all the time in my data analysis. I feel like rationally, I know that changes are things are ok but emotionally I feel a lot different (if that makes sense!)

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      • Oh of course. I’ve been there too where no matter what good news could be given to me and reassurance I still didn’t feel better. This, when I was in hospital in bed rest.

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  • My PAPP-A was also low at my twelve week scan. It is more common to have a low level with women who go through IVF. I asked my OB about it because we were freaked out too. She said that we needed to look at it just as a number. She said it didn’t change how she would treat me. She said that we knew and had talked about being at higher risk for high bp, preeclampsia, preterm birth and restricted growth issues. Whether or not my level would have been low, she would have watched for these things. It was a real comfort to hear that. I am now 22 weeks and things are progressing nicely. The baby is right on schedule. I’ll be thinking about you and sending good vibes.

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    • I am so glad that things have been going well with you (I have been keeping up with your blog). I did not know that you also had this low Papp-a issue. I am also glad you are getting good care. I feel like we have good doctors too. Before we knew we had any problems, we picked a group of doctors that we felt are best able to handle problems (I think that being IVF and having so much trouble getting pregnant has made us more careful about everything). I hope things continue to go well for you.

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  • I’m really sorry to read this. I just met with a geneticist today and as I understand it, the low PAPP-A is just one marker, sometimes these test results can be very deceiving from day to day. Nevertheless, I am hopeful that when you get your preliminary results all will be well! Fingers and toes crossed!

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  • Oh hun i am just going to pray like crazy for you two!! I beleive in miracles and the power of prayer….hang in there and as hard as it is believe ….. Here if you need a friend. 🙏❤️🙏

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