18 answers

First Trimester Screening Results

I recently received the resuls of the first trimester screen which included the nuchal transluscency and bloodwork. The results were a bit mixed. On the ultrasound and one of the bloodtests everything was normal. The other blood test was elevated, in fact I was in the 95%. The combination of all the tests together greatly reduced my risk of Trisomy 13/18 and only somewhat reduced my risk of Down's syndrome (went from 1/136 to 1/203, which I think is about a 0.5% chance). Because the risk of Down's was still under 1/300 there is still a greater risk than what was hoped and the genetic counselor laid out all of the available follow up options. These include cvc, amniocentesis, further screening through bloodwork (sequential screen) and additional ultrasounds to look for other markers of Down's. I am finishing my 12th week, so if I do CVS I would need to do it in the next few days. I don't know how concerned I should be or what to decide about further testing, including cvs - especially since there is some added risk of miscarriage with cvs and amnio. Has anyone been through this before? Any thoughts about next steps or how to cope with my anxiety? I just turned 38 so that will be my age when I deliver.

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I normally don't respond to these ones but some of you are doing one of my biggest pet peeves, it isn't Down's or Downes or Down's syndrome, it is Down syndrome. Yes kids with Down syndrome *can* have more medical problems and such but you know what it isn't a death sentence. My oldest has Down syndrome and I also have a set up twins and they each have their own strengths and weaknesses. Would I have done it different, no way no how.

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personally i wouldnt have even asked fo the blood test(yes you can opt out). this way you never are told to worry about something that you don't plan to change anyway. if you just want to be prepared that's one thing but to just be curious i think the risks are too great to justify doing anymore tests. pray and be thankful God has blessed you with this baby. that's what i would do.

2 moms found this helpful

I was 40 when I had my son. I skipped right to the amnio as I was certain that if there was any identifiable anomaly I would terminate the pregnancy. The small risk of miscarriage was much more acceptable to me than any preventable/avoidable defect. I would think the genetic counselors should be fairly conversant with these risk/benefit discussions. If not, your obstetrician should be able to advise you as well.

1 mom found this helpful

It really depends on your outlook. if you are going to carry the pregnancy to term no matter what I would skip the amnio and just go with a level 3 ultrasound later on.
If terminating the pregnancy is an option you would consider get the amnio.
I an over 35 and will skip the first trimester screening for my next pregnancy and go straight to a CVS/amnio as early as possible if we decide to have another....when you're older the screening often produces wonky results.

My daughter is 5 and when I had the nuchul I tested around the 5% range for downs. I remember this was scary when my OB told me but I also specifically remember him telling me that this happens and it can mean nothing. He sent me to a fetal specialist and they monitored me till i gave birth. I ended up not doing the cvs or the amino, (i was curious about the amnio but by the time I wanted to do it, it seemed the risks of bag breaking was too high).
It was scary for me bc the fetal specialist didnt have a clear cut answer, never gave me good news or bad news. I had other complications as well such as preterm labor that they had to put me on meds for a time to stop the contractions and she had a 2 vessel cord. It was a roller coaster ride and I know how you feel. She was born full term and healthy. I feel for you and understand what you are going through. The only advice I can give you is to pray about it and talk to the dr. about it.

I think you could look at this two ways, on the one hand, some, like my SIL would say, "I wouldn't terminate, so why stress myself out the entire pregnancy over something I can't control." For myself, my hormone levels were very high which some say could put me at risk for Down syndrome, so I was a wreck the first trimester. I don't know what I would have done if it had been positive, but I knew I couldn't go on through the entire pregnancy speculating and not knowing. The stress of not knowing would have killed me. Luckily the NT screen showed that I wasn't at risk and that was good enough for me. So if the anxiety of not knowing will make the rest of the pregnancy unenjoyable, go for the CVS and put your mind at ease.

I was 38 with my first. My spouse and I wanted definitive -genetic- information and chose to go with the CVS. It is usually performed between the 12th and 14th week, so yes, you need to be on top of this if this is your option.

Yes, there are risks involved. (Isn't that the kicker with birth, even?) So we chose to go to a medical school where they do literally hundreds of these a year, and not just someplace local that might do a dozen a year. That made us feel better about the risk.

It's a tough decision, and it won't be the last tough one! I wish you peace and joy on your journey to motherhood!
~Rebecca

I normally don't respond to these ones but some of you are doing one of my biggest pet peeves, it isn't Down's or Downes or Down's syndrome, it is Down syndrome. Yes kids with Down syndrome *can* have more medical problems and such but you know what it isn't a death sentence. My oldest has Down syndrome and I also have a set up twins and they each have their own strengths and weaknesses. Would I have done it different, no way no how.

A friend of mine just went through what you are going through. She knew that MS and Downes' Syndrome ran in the family and yes she was around your age. She knew that she couldn't handle having a little one with any of these ailments', she just couldn't handle it. She had the amniocentesis done, all went well and she was estatic knowing that her little one had no birth defects which gave her so much more room to breath rather than being on edge all the time. She was so concerned that she would have to have an abortion if something turned up and that as well brought her blood pressure up. If you are concerned I would go with the test, the sooner the better. This way you yourself will feel so much better. Nothing is worse than being stressed out while being pregnant at the same time. You worry, making yourself sick and this is not good for you nor the little one that you are carrying. I wish you luck and I wish you well. You may be surprised at the results. The amniocentesis shows' so much nowadays. I am sure that you are driving yourself up the wall with the not knowing which isn't good for either of you. Trust your Obstetrician this is very important. Again I wish you luck and am sending you a prayer as well. Take care of you and the little one :0)

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