Talking with the Genetic Conselor

Hi A. - the level 2 ultrasound for my youngest son showed that he had that little calcium deposit as well and he is perfectly normal. If the ultra sound showed normal femur measurements, head measurements and normal for any other markers to detect Downs, then he probably isnt Downs. I chose not to have an amnio because the results werent going to change the outcome of the pregnancy, it wasnt therapeutic and the test was invasive. This is of course your decision.

I wish you all the best - you and your healthy baby.

The risk of amnio is actually very low. The 1:200 (0.5%) risk number for amnio is coming from studies conducted in the 1970's. This was when they didn't even use ultrasound to guide the needle. A more recent study in 2006 showed a risk closer to 1:1600 (0.06%). Risk rates will vary from facility to facility and among doctors, so check out the doctor if you decide to do an amnio. The doctor who performed mine had done thousands over several years and also had a very low rate of complication and he had never had a loss.

http://www.boston.com/news/health/articles/2008/04/07/amn...

Even though the risk is really small, there is some risk and if you are one of the unlucky .06% it's a huge horrible thing. So think about what you are comfortable with. With these numbers, I think it all comes down to what your decision would be if you found out from amnio that your baby did have Downs. If you would terminate, then have the amnio. If you would not, then don't have the amnio.

Having said all that, with your age and the fact that the baby otherwise looks good, I would bet that chances are good that your baby is healthy. Of course, Downs can and does occur with pregnancies of any maternal age, but the chances are lower when you are so young. So the rate of risk goes up as you get older but still more than half of babies born with Downs are born to mother's under 35. This could be because mothers over 35 are being tested and choosing to terminate, or it could be that women over 35 aren't having as many babies, etc.. Again, for me, it all came down to what my decision would be if I found out from amnio that my baby did have a serious problem. I was 35 when I had my second and I skipped the AFP test entirely and did the amnio since the risk rate from the amnio (1:1600) was WAY less than the risk rate for my age group of having a baby with a serious genetic defect (1:147).

Best wishes for you and good luck with your decision.

well risk is high for your age. mine at 38 was lower. and even lower after my screenings. Amino comes with a 20% risk of miscarriage, so i would personally be inclined to pass

I would decline the amnio as well. I know that not only is there a risk for miscarriage afterward but also it poses other risks as well. My doctor had wanted me to have something similar to an amniocentesis done at 23 weeks due to me having double the amount of amniotic fluid. My husband and I declined and went back for another ultrasound this past Monday and everything was fine, my fluid levels were fine and the baby was perfect. I say just hang in there and wait until they check you next month. Praying for you and the little one!!!

There is actually VERY LITTLE risk (actually in studies the same amount of women miscarried who declined the amnio as who had it -around 1 in 1600) -especially at your age -with amniocentesis. The risk of miscarriage is incredibly slight. I think you should have an amnio so you can get through the rest of the pregnancy knowing for sure whether or not you need to prepare for a special needs child. I had one, and it really hurts -but it doesn't take long and it pales in comparison to labor!

My dr. was obligated by law to tell me all the negatives. What she didn't tell me was about false positives - I still don't understand them, but a friend who is a genetic counselor was able to explain them. We looked at it this way - What is the reason for the test? To determine health risks to the baby - that nothing can be done about in utero anyways. To determine abnormalities of the baby, leading to abortion or life. We saw it that way. We weren't going to abort, nothing could be done if the baby had health problems until the moment of birth - we gave it a pass.
Good luck!

Hi A., All those tests with all those numbers can really send you to crazy town. I too had a risky pregnancy. The last set of numbers my Ob/Gyn gave me were that I had a 1 in 23 chance that my baby had Downs. My numbers were high partly because of my age, 42. I proceeded to have a beautiful healthy baby. I am glad to hear that you are seeing a genetic counselor, hopefully they can clarify why your numbers are high and your risk. As far as I am aware there is no guarantee either way. I made peace with the fact that I might give birth to a baby with problems and I would care for her the best I could. I have met young adults with Downs and they always seem very happy. I am contemplating getting pregnant again, knowing that my numbers will surely get worse. It is very scary for me to consider that my next child could likely have problems, or be just as healthy as my first child.
My best advice is to; Get informed, Stay healthy, and Trust your instincts.