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Genetic testing

moewhit25moewhit25 Senior Member Senior Member
For those of you that have opted for early genetic testing please share your experiences. I am concerned because although the NT measurements were well within range apparently my bloodwork came back for high risk for Downs Syn. Based on my age 42 and whatever markers were in my bloodwork I have a 1 in 41 chance. The norm for my age group is 1 in 45. My OB suggested an aminocentesis but I don't want to jeopardize the pregnancy. She then suggested the materniti21 test which I will have done on Monday. I'm nervous and have started to think about how different things could turn out. Whatever the results it won't change anything but I'm so concerned now....

Comments

  • Anne72Anne72 Senior Member Senior Member
    Moe, I'm praying for you and hope it all works out well. Please do keep us informed on your choices and how it works out. I'm 40 and also struggling with the choice if I will do amnio or not. I wouldn't terminate based on Down's but it would likely make my child-care choices a lot different.
  • mary313mary313 Member Member
    Moe-- 1 in 41 v 1 in 45 seems right close to the norm for age....??? Would you terminate if downs?? If not, given the pretty close to normal for age risk numbers, you maybe could wait until 2nd trim bloodwork and then do the other test (can't remember but the non amino one) if the risk percentages increased greatly?? If you wouldn't terminate, you could find out all about the local downs resources available if you needed and not risk the pregnancy.... ?? Whichever way you go--- it will be what you feel best for you and baby... Xoxo
  • moewhit25moewhit25 Senior Member Senior Member
    Thanks ladies, I really appreciate your responses and support. I would not terminate but it just makes me nervous to think about the what if's. Yes, the 1 in 41 is close to the normal range for my age but those odds sound high to begin with....The Materniti21 test is a new bloodtest that is just as accurate at an amino. So in addition to that test I'll also have the anatomy scan around 20 weeks and just hope for the best.

    I'll keep you all posted. Thanks again!
    Moe
  • moewhit25moewhit25 Senior Member Senior Member
    Brief Update:
    My genetic counseling went well today and I had the bloodwork for the Materniti21 test. It takes 10 days to get the results. But I'm not stressed about the outcome. The counselor said that based on my initial NT bloodwork I have 97% chance of a "normal" little one and 2.5% of Downs. That's what 1 in 41 translates to! So I feel better about the results. The good news is that the Materniti21 test yields a negative or positive result instead of those ridiculous numbers. Thanks for sending positive thoughts this way!!
  • roby72roby72 Member Member
    I did CVS (corionic villi sampling) at 12 weeks. It was a little painful (they went through the skin because my placenta was anterior), but very very fast. baby was in perfect position, doctor was fantastic and it was super fast. Got my results 1 week later...all the genetic tests possible and the sex of the baby were known at 13 weeks of pregnancy. There are a lot of false positive regarding the nucal translucency test, and because of my age (39 at that time) I opted for CVS and it was a HUGE relief to know that everything was perfect...I could enjoy the pregnancy and the birth of my baby without worrying about!!! You can still do amnio if you are worried. Overall your 20 week anatomy scan will be absolutely able to tell if your baby has down syndrome or not. All the best for you...take care and always think positive :)
  • hopefulcharhopefulchar Senior Member Senior Member
    Hey Moe,

    i havent really been on this thread much in the last month or so..it tends to give me anxiety of my situation. I did want to write to you to let you know that i am sure everything is great. you have come this far and overcome so so much. try to just relax and enjoy what you spent so long working so hard for. i have learned in the last month that the struggle is not over once you get the positive or even after your in the "safe zone" 12 weeks. Life with a child is a constant worry weather it is worrying if the baby is healthy in the womb, weather your cervix will protect them, weather the baby is born healthy, worrying about sids after they are born, then every bump, bruise, scratch, heartache etc. We can all choose to let fear consume us or we can look past the fear and enjoy the dream we are all living. we all wanted this for so so long. lets just breathe.

    I could spend my days laying in bed wondering what if this..what if that. I choose not to. i am positive, hopeful and dare i even say excited. This attitude has gotten me this far. 31 days into a 43 day journey. Almost at the next goal of 24 weeks. Live life happy. live your life excited and no matter what happens with this test you still haveyour sweet little baby. (my guess is it is a girl)

    xoxo

    charlotte
  • MillaportmanMillaportman Junior Member Junior Member
    Hi Ladies,

    I was just wondering if you could explain to me what Genetic Testing involves. Is it just special requested bloodwork asking to check for things or is it something entirely different and much more involved? Is it done through your RE, or does it require a special doctor outside of the practice? Is it something only used for IVF? Is it something everyone of AMA should look into? Right now I am only doing IUIs and have never considered this before, but wonder if I should. Any insight you can share on this subject would be greatly appreciated. Thanks so much!

    Sincerely,

    Amber
  • moewhit25moewhit25 Senior Member Senior Member
    Hi Ladies!
    Hope that everyone is doing well. Welcome back Charlotte. Congrats on having less than 2 weeks before you get to 24 weeks! It's crazy how it's always a waiting game...There are milestones that I've reached that help me slightly exhale but I still don't feel like there's ever a "safe zone". Not to sound negative but it's just the way my brain keeps everything in perspective. We can't stress about things that we have very little control over. Just take things day by day and try to enjoy each week that brings you closer to holding your little bundle of joy. It's funny because most of my friends think I'm having a boy and on some level I feel like I'm going to have one. If I have a girl she will certainly be a diva (based on some of the women in my family) and I'll have my hands full!!! And of course I will be thrilled with a healthy happy baby boy or girl...

    To answer your questions Amber, genetic testing is typically suggested to women that have had miscarriages previously and/or who are over 35 years old. You don't have to go through fertility treatments to be offered these tests. They range from non-invasive screenings to invasive tests that provide more accurate outcomes than screenings. OB's typically will refer you for genetic counselling and that practice will conduct the tests. Many tests require an out of pocket expense. The Maternati21 test is not covered by insurance because it's still a new test, so I had to pay a flat rate of $235 despite the insurance being billed $2500 (all denied).

    Screenings=Around week 10-13 NT (nuchal translucency) measures the fluid behind the baby's neck via abdominal ultrasound and also looks for the presence of a nasal bone. It also involves a bloodtest that looks for certain levels based on your age. Those two factors will yield a ratio of your "risk" for Downs Syndrome and Trisomy 16, 18. Typically the older you are the more likely you will get a false positive which then the doctor will suggest more definative (invasive) tests.
    There's also a quad screen which I'm not familar with...

    Invasive tests: CVS offered in first trimester which takes a sample of the placenta or aminocentesis offered in the second trimester. Both carry a risk of miscarriage something like 1/200

    The test that I opted for in a non invasive blood test (Maternati21) which has been out less than 2 years. It looks at fetal DNA and is 97% accurate for picking up chromosomal issues. The results are positive vs negative.

    These tests are skipped by many moms to be because if the results won't change the outcome of the pregnancy why spend the next 6 months stressing? Others look at the results and want to be prepared in advance for a special needs baby.

    My results will be in around mid week and I feel good about it.

    Hope this helps....

    Moe
  • moewhit25moewhit25 Senior Member Senior Member
    My Maternati21 test came back NEGATIVE!!! Took less than a week to get the results. So thrilled!! Thanks for the positive thoughts ladies :-)
  • Anne72Anne72 Senior Member Senior Member
    moewhit25 wrote: »
    My Maternati21 test came back NEGATIVE!!! Took less than a week to get the results. So thrilled!! Thanks for the positive thoughts ladies :-)

    Woot! I'm so happy for you! Now, keep your fingers crossed that I get the same good news when my turn rolls around.
  • mary313mary313 Member Member
    Moe - wonderful news! So happy to hear that! I thought it would be fine given you were right in normal range for your age, but sooooo glad you have it confirmed and don't have to worry about that the rest of the pregnancy! (one less thing is always good...!) Did it also tell gender?
  • moewhit25moewhit25 Senior Member Senior Member
    Thanks again....Anne your tests will be fine just keep a positive outlook and know they have a lot of false positives based on our age alone...Mary the test doesn't look at gender and I'm not peeking during my 20 wk ultrasound next month. I want to be totally surprised when my time comes:-)
    Have a great week!
  • sine4mesine4me Senior Member Senior Member
    Congrats Moe, thats great news!
  • robinrobin Senior Member Senior Member
    Moe,
    Congrats! So happy for you! another thing down. I know what you mean about milestones and looking ahead! We all thought at one point getting pregnant was going to be the hardest thing! Who knew..... but looking at the positives and enjoying each day is where its at! I still do that and my baby is out and in my arms! There are still moments I worry and I push it aside and tell myself to enjoy just this moment! Especially those 3 am feedings... but when my guy smiles at me my heart melts! Today while driviing into work the song Perfect by Pink was on,
    I LOVE that song, as I was singing along I started to cry! that has nr=evered happened, what motherhood does to us. I just kept picturing Maksim and thinking he is perfect to me!

    Have a great day!

    Robin
  • MillaportmanMillaportman Junior Member Junior Member
    Congratulations, Moe! I'm so happy to hear that all is well with your little one! :)

    Thank you also for explaining my questions about genetic testing. I'll mention it to my RE at my appointment tomorrow just to see what she thinks because of my age . . . but I've never been pregnant before so I don't know if miscariages will end up being an issue for me or not. I just know that the mc rate goes up as you age, so I suppose there is that to consider. I guess it's just a waiting process now to see if my next IUI takes. If it does, I think that at this stage I would be too afraid to risk mc for invasive testing. Although the Maternati21 test sounds like a good option as it's non-invasive and could help me prepare if i were to have a child that required special needs.

    Thanks again for all the great info! I hope you continue to have a wonderful and worry-free pregnancy!
  • Anne72Anne72 Senior Member Senior Member
    I'm setting up my appointment for the blood testing. In California it is called Harmony21 and you have to have a genetic counseling session first.

    My doc is not doing a NT ultrasound since I'm doing the blood test - which is the path that she recommends for someone my age. Gotta love the AMA tag :)

    My next OB appt is 25 September. So weird not to be going every week
  • Anne72Anne72 Senior Member Senior Member
    Well, had my blood drawn today. I have the genetic counselling session on 17 September. Prayers appreciated but I'm staying positive
  • Anne72Anne72 Senior Member Senior Member
    Got the Fragile X and Harmony21 results yesterday afternoon. Everything is good! Yay! One less thing to stress about. My next appointment with the OB is this afternoon.
  • moewhit25moewhit25 Senior Member Senior Member
    Anne72 wrote: »
    Got the Fragile X and Harmony21 results yesterday afternoon. Everything is good! Yay! One less thing to stress about. My next appointment with the OB is this afternoon.

    Awesome NEWS Anne!!! Enjoy and exhale....
  • MillaportmanMillaportman Junior Member Junior Member
    That's fantastic, Anne! Congratulations on the positive news! :)
  • sine4mesine4me Senior Member Senior Member
    Congrats Anne, great news!!
  • redolfin26redolfin26 Member Member
    the materniti21 test should give you some more info to help you with your decision. it comes down to numbers. when you get the risk assessment from the test you need to decide if you are comfortable with that number. for some people, 1:41 is good odds because they hope that are one of the 40, not the one. for some a risk of 1:5000 is not good because what if they were the one...all depends on what you would do with the results. if you decided to do the amniocentesis would you be having your reg OB do it or a high risk dr do it? one should weigh the risks of the procedure (fairly low) to the risk of having a baby with a problem and what that means to them..its a personal decision, if you were on the fence, to the materniti 21..see how it goes, get a consult at a high risk OB office and ask for an early Level II...they can do a screening for any structural abnormalities that might put you at a higher risk of a problem, or give you some piece of mind//good luck with everything,im sure this is not easy!
  • maria2maria2 Senior Member Senior Member
    Awesome news!!!
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