Upsetting Screening Results

Hi Everyone,

I received the results from my Quad Screening today.  I am very upset because the results were a 1:35 change of Downs Syndrome.  Because I will be 38 at the time of delivery, my risk just on age alone is 1:160.  My husband and I made up our minds before the testing - that we will love and joyously accept a special needs baby into our lives.  Knowing the chances now, however, have created a whole new level of worry. 

We have an appointment with a Genetics Counsellor on Wednesday and she will explain the tests results and tell us whether the markers were "soft" or "hard" and go through the risks and benefits of the next step: amnio. 

I am more worried about the amnio than I am about raising a child with DS.  Is that terribly unreasonable?  The risk of miscarriage is 1:200 with amnio and although it can tell us positively "yes" or "no," I don't think I want to put the baby at risk.  The other option is a Level 2 Ultrasound - but it can't give us real answers, other than physical and cardiac deformities.

I don't know.  I am feeling a little low and lost.  Any words or advice or anecdotes would be helpful

Thank you
J

Sorry to hear about the test results. I would go though with the amnio if only to get the degree of DS, I dont know much about DS but I have heard there are different degrees, this way you can do your research, find a good doctor, etc... But that is just me, I am sure your family will make an educated decision, it will be hard and there will be pros and cons to each decision so just make one that you can live with in the long run.
Good luck and I will keep you in my prayers

Thanks Mel,

They can only tell you for certain if the baby has DS, not the degree of impairment - I actually asked my OB that today.   As an educator, I have seen children with DS who are perfectly capable of handling most situations and others *****quire significant intervention and assisstance.  You are right, DS has such a broad spectrum. 

Thanks for your input and especially for your prayers!

J

I have heard of this a million times. It is exactly why I will not do the 1st trimester screening. I am sorry you are going through this stress now. If you are positive you are willing to keep this baby, then personally I would not even have any more testing done. There is nothing they can do for a baby in utero to help down syndrome. The only thing further testing will do is give you an absolute answer but that is up to you. There is a great chance that your baby is perfectly fine. You can still educate yourself on DS beforehand if you choose to not test further. There is no right or wrong answer here. You have to think positive and not stress the rest of your pregnancy....easier said than done...I know.  Best wishes and let us know what you decide. I will be thinking of you and DH. (((hugs))))

I have had 1 amnio at 20 weeks with my 1st baby. 

on my second I went into have a CVS (but becase of my weight they couldn't do it) then went back for an early amnio at 14 weeks.  

My Doc said the other testing if pos or mixed results would lead to having an amnio, so I felt we  might as well start with the ammnio. 

The procedure is simple and fairly painless, the 1st time I had it done, I was like you and had a lot of anxiety and worry. There was a little poke, like getting any shot, then nothing until the needle went thru the uterus - where it was a small and split second mild cramping sensation. Then didn't feel anything but a little pressure. The same in reverse to remove the needle. 

It felt, I had worked myself up more then the experience warrented. 

The early amnio was the same. But by a different doctor/center and they rubbed my feet the entire time to make sure I was relaxed, it was really nice. 

I had also never miscarried before. So that made me feel more capable (?) if that is the word for it. 

Good luck!

Thanks Emme,

Hearing from someone who has gone through the process is comforting.  I am just so unsure of everything.  I have had a pretty difficult pregnancy so far but it has been all about me - th emorning sickness, the migraines, the dizziness and dry heaves.  Now it is about our baby and the worry is so much bigger.  I guess that is a big part of being a parent.

Thank you so much,

J

I did all the testing also. I did all the nonevasive tests and decided to leave it at that. If anything would have shown up then I would have just did research and learned all I could. I did not want the amnio but my husband would have. I still would have chosen not to. I know many people who have had them though so they had no issues with it You have to do what you think is right.

Thanks Shannyn,

I think that is the way we are going to go.  This so hard!

Thanks so much,
J

I am in similar boat right now, thought my blood test came back fine the ultrasound showed an EIF, which is a "fancy term for bright spot on the heart". They had me do a level two ultrasound to confirm that the EIF was in fact present, and to check for other markers. I had my ultrasound today, and there were no other markers. This took my chances from  1 in 800 (original based on age) to 1 in 5000 based on negative blood screen, now my risks are 1 in 2000 due to one marker. I was offered an amnio, and declined because the Level 2 was able to confirm that even if the baby does have DS, her heart is defect free and that was my biggest concern.

I would suggest having the Level 2 ultrasound, that the markers can be evaluated, and if in fact your child does have DS you would be prepared for any possible heart problems, which are common with DS (40-50% they told me). Its less invasive than the amnio, and will prepare for the physical problems, which it sounds like is your bigger concern than the actual DS

Just my opinion of course

Thanks - I think the Level 2 US is the way for us to go right now.  I am feeling so unsure of what is best and am hoping for more answers when we meet with the Genetics people at the Children's Hopsital this week.  You are right about the heart problems and I know that the US can pick that up.

I imagine pregnancy was a lot easier for our mother's when they did not have to deal with these tests!

Thanks again
J