Increased Risk of down Syndrome and Neural Tube Defects.

Hi I., I'm sorry for your worry and stress. I was high risk due to my age at pregnancy (44 when I had this baby). I opted for CVS (chorionic villi sampling) at 13 weeks because I felt I would drown in the stress of not knowing and just better to know than worry. I was more afraid the worry would cause a miscarriage. I did look up the choroid plexus cyst and while this is a down's marker, there is a 1% chance of down's and 99% chance of not. I was told that down's or any other chromosome abnormality can only be identified via CVS or amnio. I'm sure the specialist will discuss that with you. I actually found that when I discussed this with others, I was surprised by how many people had an amnio as well (CVS is much newer). For me, the peace of knowing was worth eliminating the stress so I could continue with a healthy pregnancy for my baby. Best of luck to you in whatever you decide.

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First of all, I'm so sorry that you're dealing with this stress. I know how it is hard to focus on anything else. I was 31 when I had our son, and he had a choroid plexus cyst on his brain revealed on one of his ultrasounds. The ultrasound tech was able to look for other physical markers that could indicate Down's Syndrome, or another abnormality. Fortunately, no other physical markers were found, so we opted out of the amnio (which was offered to us). I had already miscarried 4 times previously, so I was just happy to have made it as far as we had, even if something could be wrong. The genetic counselor was able to help us make our decision. Hopefully when you meet with the specialist, you'll be able to make a decision that will put you more at ease with the situation. It was a hard decision for us to make though, and it was something I thought about until he was actually in my arms. Our son is completely healthy and is almost two years old.

It's a hard decision to make. If you think it's going to wear on you for the next 18 weeks, then maybe have the CVS or amnio done. The other thing to consider is what if the amnio comes back positive for Down's or a complication of some sort? Do you want your doctors to be prepared, or are you thinking of preparing yourself? I can assure you that no matter what, as soon as you hold your little one for the first time, she will be absolutely perfect to you, no matter what. Good luck!

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All I have to say is that no matter what the outcome of your tests, when you see you baby girl for the first time, you are going to fall completely in love with her and no medical condition is going to change that. She will be absolutely perfect!

I know from experience, my son was born with a kidney condition, and my daughter was born with deformed toes, but they are completely perfect in my eyes!!! We just have to go to a few more doctor appointments than normally, that's all. Good Luck with everything!

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I know it's difficult, but you must remember that all children are a gift from God that are only on loan to us. Everything happens for a reason and if He wants you to be in this situation, then you must embrace it.
When you feel like you're at your wits' end, pray about it and know that God is always with you and listening.

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Im 32 weeks pregnant with a girl also. When I was 14 weeks I had the early screening done and my chances for downs was 1 in 18. Im only 22 and it really worried me and stressed me to the max.I stressed until my appt with the specialist. Nothing I did made me less stressed. There is nothing worse than thinking that something is wrong with your baby. At my appt, they did another blood test and the results were as bad as the first one. I then opted to have an amnio done. If you want for sure answers, have an amnio done. My results came back just fine, all that worrying for nothing! Amnios are 99.6% accurate and there is a very slim chance of miscarriage. Once you know for sure you will feel alot better. Best Wishes and good luck.

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See if, with those results, your insurance will pay for an amnio. Insurance pays if you're over 35, but I'm not sure about if you're under. You could also inquire about how much it would cost out-of-pocket. The specialist should be able to tell you more. Most likely, everything is just fine! The quad screens and blood tests are really unreliable and just show if you could have an elevated risk. I decided to have an amnio with both of my pregnancies because I was over 35, but with the 2nd I really wanted it due to odds just about like yours, and both of my boys are fine. In this day and age, amnios are safe and most practices have certain doctors who do all of theirs so they have lots of practice. It's the way to know 100% if your baby is Down's or not. Because babies with Down's can have heart problems and other physical difficulties, it's good to be prepared so your delivery team can also be prepared. Everything is probably a-ok though!

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Do you know how to do visualization?
Get comfortable, breathe slowly.
Turn off the phone ringer, any other noise sources.
Consciously relax ALL your muscles to the extent you are able.
Allow yourself to sink comfortably into whatever you are lying on.
Picture in your mind your own body as a nurturing safe place.
Picture in your mind a healthy happy beautiful little girl.
Imagine holding her, loving her, playing with her, etc.
Create, if possible, more than one setting/environment
in which you and your daughter are enjoying one another's company.
Don't think about a child with health problems or deficits.
See if you can do this regularly (more than once/day)
between now and your specialist appointment.
When you go to see the specialist,
don't project a negative or a positive expectation.
See if you can allow yourself to be open to hear and absorb
whatever the specialist is going to tell you.

I'm not sure how you can convince yourself to not worry until you know you have something to worry about. Right now it is just odds and you don't know for sure there is any problem.

If you are still worried after the specialist appt. see if you can make an appointment with a genetic counselor. My ob's office arranged the appointment and it really helped me assess my specific risks. I did this and opted not to have any amnio since the only thing that increased my odds of problems was age. (I would not have had a chance to rest after amnio with my very active toddler so the amnio was a risk in itself.)

My doc told me the same thing regarding the AFP test, with our son. It was our first baby. But, he also told me that a large percentage of the tests are erroneous. Your doctor should schedule a 2nd follow up test (if you want it). Mine did. It came back perfectly within normal ranges. My son is perfect. He's 12 now.

Hey, I.. I feel so bad that this news is so stressful for you. I have a 6 month old baby girl ( my 2nd child) and my early testing went much like yours. My risk for A child with Down syndrome was even higher. 1 in 20 , I think. I saw a very experienced perinatologist and we did hi definition ultrasounds and genetic counselling. Our ultrasounds were all normal. We opted not to do CVS or amnio as the risk of miscarriage, while very small with an experienced doctor, was unacceptable for me. ( I was 41 when pregnant with her and knew I could not bear it if something went wrong-- I wanted another child badly). We discussed our thinking with the MD who assured me that the potentially bad medical problems usually associated with Down syn are normally seen on high def US and that doing amnio would not change any medical course we would take for her. I will tell you that the concern never completely left my or my husband's mind until my sweet little baby was born. She has Down syndrome. And indeed there have been no medical problems that the doctors needed foreknowledge of. Amnio can do some things-- give you peace of mind if normal, give you a chance to " interrupt" the pregnancy ( ie, terrminate/abort) if abnormal, or give you time to mentally adjust if abnormal and you don't terminate. In the latter case you will still stress over the unknown. Again we had no desire to terminate regardless of the amnio results so opted not to do it. My doctor fully supported our decision. Everyone is right. You will love that che no matter what. I have shed tears over our little one's diagnosis, but would not change any of our decisions-- including our decision to continue the pregnancy no matter what. Every child is perfect and no child is perfect. (if that makes any sense.) We feel lucky to have so many resources available -- at least we know what to watch for. I would be happy to talk to you more if you want. Good luck with what is a very personal decision.

God bless you and give you peace. A first pregnancy is both exciting and suspenseful as you are heading into the unknown. Don't let this news take away your joy. As so many others have said, children are a gift from God regardless of whether they are "perfect." No one is perfect. Also, the risk factor is so low. Don't do the research. You will just scare yourself. Just listen to your heart and talk gently to your unborn child and pray for your baby.
I was told that I could never carry a child to term and if I did, would not be able to deliver. Two children later . . . .
Don't worry, just pray as you go. If you want to be fascinated, read The Secret Life of the Unborn.

Something was found during an ultrasound with my child as well. Here are my two suggestions for you: do not google the conditions as worst case scenarios always come up and it will not make you feel better and if you're going to have this child, do not do the amnio. Prepare yourself but not with that test as you can miscarry or have a premature baby which could just add on to problems.