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    Down Syndrome
    Saba1977 posted:
    Hi All,

    I am 13 weeks pregnant with my third and turned 35 in December. I had level I u/s today and everything looked normal. I also had NT blood screen last week and got the results today. 1/255 chance of down syndrome. I am shocked.

    Please please please don't judge me, but I don't think I have the courage and strength to raise a baby with some health issues. The doctor has given an option to get amniocentesis done, but I am nervous about the (even slight) risk of miscarriage due to the invasiveness of the procedure.

    I am a religious person and have a strong faith in HIM. I will keep praying for a healthy baby (even if the third one is also a girl), but I also believe in not sitting back and not trying.

    I don't know what are my options at this point. Whether to go with amniocentesis or wait for level II u/s at around 20 weeks? But how conclusive would be the u/s?

    Any advices?
    422mommy responded:

    I hope that I can ease you worrying a little bit. I am currently pregnant with my second child. I have gone what you are going through TWICE! With my first son, I found out that I had a 1:146 chance of having a baby with Downs. I had a level II ultrasound and everything looked fine. They lowered the number for my chances of him having downs BUT I still opted to have the amnio. (OUCH by the way!) and my son was absolutely fine. The amnio, for me, was just that assurance that I needed that everything was going to be ok. I didn't want to stress the entire pregnancy.

    This time around, same exact thing. I went an had a level II ultrasound and they said everything looked fine and once again, they lowered my chances of my newest son having downs. We talked to the doctor and he basically said that the blood screening test that they run, is known for giving "False positves." He told me that he sees 10 woman a day that get the same type of results. We decided not to get the amnio again after talking with him.

    My advise, and this is only an opinion, is that you have some serious worries about whether your baby will or won't have it. Don't spend the rest of your pregnancy with doubts and stress. Get the amnio. It hurts for like 60 seconds and its over. My doctor told me it is pretty much harmless and that you have more of a chance of hurting the baby in a car wreck to the doctor than harming it from the amnio. Most sources cite the risk of miscarriage after an amniocentesis to be around 0.5% to 1%.

    Sorry I wrote so much. I just have been in your shoes and know how you are feeling!
    ChristinaTT responded:
    Hi, lurking from 1st Tri, but I've had experience with false-positive results on the triple/ quad-screen too! With my 1st, I was told I had a 1 in 12 chance of having a baby with Down Syndrome! And I was 23 at the time. I asked my doctor to re-do the test, and chose to wait for the results of the new test and follow up with the level II u/s. I'm not sure if the test has improved in accuracy since then, but in my case I was not as far along as we thought, so the test results were being compared with levels that of course I wasn't at yet! (does that make sense? I'm trying to figure out how to explain.) The second test came back negative, and my level II u/s was normal. Since then, I've chosen to not have the triple/ quad screen test done because of the chance of false positives, and I don't want to waste energy worrying over that!

    It's entirely possible that you are carrying a healthy baby, in fact, a 254/255 chance! Please try not to worry over-much (easier said than done I know) and I will be thinking of you!
    mommyin2011 responded:
    I work in a lab and the test elevation is associated with open neural tube defects, multiple gestation, placental anomalies, ventral abdominal wall defects, congenital nephrosis, and oligohydramnios. Follow-up for abnormal test results include genetic counseling, level II or III ultrasound examination, and consideration of amniocentesis for chromosome and test analysis.

    Normal levels do not ensure birth of a normal infant; this test screening has a false negative rate of 12%, and 21% for anencephaly and open spina bifida, respectively. In addition, 2-3% of newborns have some type of physical or mental defect, many of which may be undetectable with current prenatal diagnostic procedures.

    If the doctors recommend further testing, please consider. If there is any chance in your LO having DS, there are counselors to help you cope.

    Good luck to you and your LO
    Me (29) DH (27) 3 fur babies - DS born 7/31/11 - 2nd baby due 7/20/12!! 11 days before DS 1st birthday! :)
    Saba1977 replied to mommyin2011's response:
    Thank you everyone for your supportive responses.

    I have made an appt wit the Genetic Counselor to go over my next options, which is not until mid next week. I am however, scared of the even minor chance of micarriage due to amniocentesis or a false positive.

    I know it is a very personal decision, but my head starts spinning thinking what if the results are for DS. What am I going to do?

    I am also going to ask my prenatal consultant for a new test I fond out about today MaterniT21, its supposed to be non invasive diagnostic test for Trisomy 21. It should be offered in Chicago area.

    Have my fingers crossed. Please keep me in your prayers.
    RobynMia replied to Saba1977's response:
    For a more religious response on that one:

    Currently my baby is at a 'high risk' of neurological disabilities. It brings fourth a slew of emotions.
    But, God (no matter what God you believe in) would never give a challenge to someone they knew could not handle it.

    Things happen for a reason, whether your baby be a perfectly healthy baby or not, I have yet to meet a parent that has not found a way to love and cope with the child they were blessed with. (I exclude crappy parents from this statement).

    Everything happens for a reason.
    jlbwondering35 responded:
    Hi Saba1977,

    I had a 1/150 chance of Down's with my first (I was 37 yrs old when I delivered him and now I'm 38 with the second delivery) so I went for the amnio and it was the BEST decision for ME. 6 months later we decided to try for a second baby, got pregnant immediately and decided to skip the pre testing for Down's and go immediately to the amnio. Again, it was the best decision. For me, I needed to know. The needle isn't that bad, all depends on where your placenta is and how the baby is positioned. The second time around it hurt more than the first b/c the baby was kicking like crazy,and they had to keep pulling the needle back a bit; but worth every minute of discomfort. We are fortunate to have a healthy 1 yr old boy and expecting a healthy girl in June.

    Do whatever feels best for you. If you go for the amnio just take a day or two to relax (especially the day of the amnio.) Kick your feet up at home and relax.

    I think the level II is pretty accurate, but with the amnio you know for sure.

    Best of luck to you!
    ME (37) DH (40) DS (10 months) Due 6/22/12 PINK TEAM!!!

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