30 answers

First Trimester Screening**updated**

****please see below for my update on 10-16, thanks!!!!****

My ultrasound and first batch of blood work was fine. I was 1 in 380 for downs. Perfect, I was told. Much lower then most women my age (I am 33). Then my 2nd batch of tests came back 1 in 190 for downs. Much higher them most women my age. The genetic counselor has me all freaked out now, and they want me in Monday (their first opening) for a detailed ultrasound with a specialist and a possible amnio afterward. I know that the tests are not 100% accurate, and 1 in 190 is still only like 1 1/2 of a percent, which is such a low risk. But I can't help but to be super freaked out. Does anyone have a story to share to calm me down OR prepare me? I am currently 17 weeks pregnant. And I don't want an amnio!!!

What can I do next?

So What Happened?™

I had my appt yesterday, but before I tell you the results, I would like to tell you a few things about myself and my family. My husband has something called "marfans syndrome."
As a result, he had a heart valve replaced at the age of 23, and is partially disabled. He is a stay at home dad, and goes to college at night.
Our children have a 50/50 chance of inheriting this syndrome from my husband, it is literally a coin toss chance. We suspect that my 15 month old son, Chance, has it as well. I work in an
obgyn office, infact, I have been seeing a peri Dr in my clinic, from day 1. Due to the marfans and toxemia during my first pregnancy, I am considered high risk. As Gina put it, "it doesn't
help that I am in "the field." I have too much knowledge. I live it and read about it everyday. And sometimes too much knowledge, does more harm then good. That is why I was asking
for personal stories, as personal stories are worth their weight in gold, and mean far more then "statistics." I am new to message boards, and learned a valuable lesson; Next time I am
going to ask something so personal and close to peoples hearts, I need to give more information. Although, I was not asking for peoples "opinions." Not everyone can "leave it in gods hands."
My husband and I would choose to abort a downs baby. Would we think about this for the rest of our lives? Absolutely. However, bringing a downs baby into the world with a 50/50 death
sentence is not an option for us mentally, or financially. The majority of the response were assuming that we would keep the baby no matter what, and a lot of the responses although meant
to be encouraging, made me feel WORSE. I actually wished I wouldn't have put my question out there, I asked a question, and got a whole lot more then I asked for. And before you ask,
yes, an amnio can tell us if the baby has Marfans. However, the test is still new, and requires at least 6 weeks for the parent's and fetus' DNA to be grown and tested against each other.
I don't have 6 weeks. The choice of abortion would be VERY difficult for us at 17 weeks, and impossible for us at 23 weeks. I couldn't do it, but would have too. A downs baby with marfans
is NOT an option for us. Back to my appt.........I am pregnant with a very wiggly, perfectly healthy, little girl. We are ecstatic! There were no downs "markers" during the detailed ultrasound,
therefore we opted not to have the amnio. The blood test in conjunction with the ultrasound, out my numbers at 1 in 300. Thank you for all of your well wishes.

Featured Answers

I don't have too many specifics in my story but maybe this will help make you feel better. My sister had a girlfriend who tested positive for downs at some point in her pregnancy. She and her husband were very concerned, but did not share the information with friends and she carried the pregnancy to term. She came out with a totally healthy baby! :)

1 mom found this helpful

My understanding is that this test has a large margin of error. I know of 2 women who have been through this, both with false concerns.

More Answers

Chill out...everything is going to be fine. It doesn't help that you are in "the field" I am a 40 yo mom to a 16 yr old and a 7 mo old.....33 is not old and those stats are blown out of proportion. They are just being cautious....There are worse things to worry about...easy for me to say, I have already had my baby...No, Seriously!!!Hand it over. The stress is not good for the baby....I had a 1 in 77 and I just decided that I was not up for the amnio because it wouldn't change my decision to have the baby so why take the added risk. (I had 3 previous miscarriages years ago) It is your "choice" whether or not to have the amnio, the tech actualy is the reason I rejected it. The Dr seemed "put out" that I refused it. I didn't care. It is my body and my decision. Be strong....
I had a healthy 8 lb 14 oz, 21 inch bouncing baby boy!!!!He was a month early!!!!Good luck! I will be praying for you.Are you going to the perinatologist, Dr Richey? She is at Providence. She and her husband delivered my baby!!!If you need a pep talk please feel free to email ____@____.com

1 mom found this helpful

Hi J.,

First of all, stay calm. Worrying before you have any test results back doesn't do you, or your baby, any good.

Enjoy every minute of your pregnancy, no matter what happens. There are too many gals in the world who cannot get pregnant or, for some reason or other, won't get to have their babies. Consider how lucky you are in the first place and a lot of the worry will go away right then.

As for the ultrasound, be sure to ask any question you darn well please during the session - and make sure the specialist answers them to your satisfaction. Nothing is more calming than knowledge. Be sure to let them know how deeply you're concerned, without freaking out. And why don't you want to have an amnio? I had one last year (I was 40 so my risk of a downs baby was 3 times higher than yours) and the amnio was the only way I was going to get the most conclusive results about the baby's condition. The chromosome study from the amnio was very valuable. We now have a beautiful baby girl who is 5 months old.

After all the results are back and you have a better idea of what's going on then you'll be able to go forward with confidence.

Be sure to check out the section in Mamasource from those who DO have Down Syndrome angels...you might not be so scared then. These babies are blessings just as much as all other babies are.

J. C

1 mom found this helpful

My name is M. and I was 36 when giving birth to my last child. It is very common for the Dr. to schedule this extra detailed ultrasound. I had to go through it also, just because of my age. However, I chose not to have the amnio, because my other kids were fine and this test in of itself can cause a miscarriage! I enjoyed seeing the special ultrasound and decided to take what God gave me. The amnio test is strickly your personal choice. Just thought I'd share mine!

1 mom found this helpful

I don't have too many specifics in my story but maybe this will help make you feel better. My sister had a girlfriend who tested positive for downs at some point in her pregnancy. She and her husband were very concerned, but did not share the information with friends and she carried the pregnancy to term. She came out with a totally healthy baby! :)

1 mom found this helpful

This sounds similar to what happened to may daughter with her first pregnance. She had amniocentis and learned that the baby was fine. She was told that the odds were in favor of the baby being normal. She was a little anxious but then after the results she felt more reassured about everything. The amnio can rule out other abnormalities.

My recommendation is to stop thinking about it if you mostly entertain negative thoughts. Find ways to keep your mind off it. And when you do start to worry remind yourself that you will be a part of the other 98 1/2 %. Doesn't that help you feel better?

It's like when I had my first surgery, I was so anxious and the nurse told me that I had a better chance of dying when I crossed the street to come to the hospital than I did having the surgery. And I had survived crossing the street. :):) Your odds seem to be similar. You don't worry about crossing the street. Don't worry about having a downs baby. Still it's a bit scary but it isn't life threatening. And I like the reminder that parents who do have downs babies report a lot of positives.

1 mom found this helpful

Hi J.,

My husband and I went through something very similar. We didn't even know they had ran the tests. The next thing I know my dr. office is calling me telling us we tested for downs and require more testing. I stressed my entire 9 months over some simple tests. I am 27, and I don't remember what my numbers were, but I think they were in the 1 in 150 range.

We had the level III ultrasound to look for markers. We opted out of doing the amnio, because my husband and I decided whether our baby had this special need or not we were keeping the pregnancy and baby of course.

Our son was born perfectly health, no problems at all. He in fact has only been sick 3 times in his 17 months, and never an ear infection.

Try not to worry until you have too. I know it is really hard. I hope this helps.

-- S.

1 mom found this helpful

My understanding is that this test has a large margin of error. I know of 2 women who have been through this, both with false concerns.

I had the same thing happen to me with my first baby (he is a healthy baby boy) and I think the important thing here is to not let the doctor or anyone else push you around. I declined the amnio my first time and just had the ultrasound which was able to screen for any major problems. It is a personal decision and you decide what you and your husband want. Don't let anyone sway you from what you and he think is best for your family.

They wanted me to do the same with the second one, but I just refused and told them I would have an ultrasound, but not even consider an amnio. They were much more supportive the second time around and it looks like everything will be fine.

Just hang in there and concentrate on your health and your family.


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