Aa
1:28 chance of DS
I am 17 weeks pregnant and reluctantly had the quad blood tests done. We just got word from the Dr. that my risk went to 1:28. I am 41 1/2 :) and clearly upset by this. I have been reading some great stories but wondering if anyone has some feedback on my situation. I trust in God's plan for us but it is still hard and emotional. we need to wait to hear from the specialist to schedule a meeting with them to discuss the next steps.
Thank you.
Thank you.
Hello Mrscaptain,
First, Congratulations on your pregnancy! I would like to mention that screening tests while they can be predictors of a possible risk for Ds, they are not definitive. Your genetics specialist will likely refer you for genetic counselling if they haven't already, but usually by protocols they will recommend further screening or diagnostic testing if you wish to have it. The difference between screening and diagnostic testing is, one tells you the chances by statistic and is not definitive, and the diagnostic testing is what can tell you for sure by ways of Amnio or CVS if your baby has Down syndrome for example. The reality is prenatal testing of any kind when it has to do with pregnancy is and can be stressful, frightening and confusing to say the least. I often try to explain to mom's that the numbers themselves are just numbers and while they do represent the odds, they will never tell you definitively. When I was pregnant with my first son (who has Down syndrome) I had a 1:385 odds based on my age of 35 at the time. I had all the screening, and prenatal testing that didn't come back "positive" for a greater risk. I had the amniocentesis only because I had decided I would do so well before my pregnancy because of my age. Despite the fact that I wasn't going to terminate, I still wanted to know for sure if there were going to be any concerns that I needed to prepare for. When we received the call a week and a half later advising that our baby did indeed have Ds, we were completely shocked. Not having had one positive test for chromosomal abnormalities before hand, created the shock. So, what I explain to mom's is that odds mean nothing to me in terms of defining my likeliness to having a child with Ds. Similarly, just as less risk by percentage can end up being the one that has Ds, the same is true. Having a 1:3 risk can mean your baby will be typical and not have Ds. At the end of the day, testing does create an emotional state without a doubt, and while I believe that the testing is helpful if you have a plan on what to do with the information once you get it, otherwise it causes most a lot of stress. Depending on what you wish to do with the information that you receive or can possibly receive from further testing, might help you to decide on how to proceed with what kind of testing or if even you wish to have further testing. I can certainly provide you with what types of testing and screening is available to expectant mom's but I am sure your health care provider will provide you with the same. If you wish, you can take a look at this site in the mean time: http://www.genetics.edu.au/pdf/englishpnt.pdf
I also have lists of markers that are observed for with respect to Ds on ultrasound if you wish. I also have a blog which talks specifically about a typical family's life raising a baby - child with Ds (http://www.welcometoourhouse-myjournal.blogpot.com)
As the above poster mentioned, try not to get worked up (though hard and completely understandable) until you have further information. Know that whatever happens, there are resources, help and lots of willing people to guide you no matter what the results. I am one of those people willing to lend an ear and a hand. Please do let me know if I can help to answer any questions you have regarding further testing, screening or even about Down syndrome. I have been in the same place you have (through all the testing) and I am actually going through it for a second time as we speak. I have an amnio scheduled for this coming Thursday 6th Jan. so if you have questions about Amnio's, I can help to answer those too.
You are not alone in this!
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader
First, Congratulations on your pregnancy! I would like to mention that screening tests while they can be predictors of a possible risk for Ds, they are not definitive. Your genetics specialist will likely refer you for genetic counselling if they haven't already, but usually by protocols they will recommend further screening or diagnostic testing if you wish to have it. The difference between screening and diagnostic testing is, one tells you the chances by statistic and is not definitive, and the diagnostic testing is what can tell you for sure by ways of Amnio or CVS if your baby has Down syndrome for example. The reality is prenatal testing of any kind when it has to do with pregnancy is and can be stressful, frightening and confusing to say the least. I often try to explain to mom's that the numbers themselves are just numbers and while they do represent the odds, they will never tell you definitively. When I was pregnant with my first son (who has Down syndrome) I had a 1:385 odds based on my age of 35 at the time. I had all the screening, and prenatal testing that didn't come back "positive" for a greater risk. I had the amniocentesis only because I had decided I would do so well before my pregnancy because of my age. Despite the fact that I wasn't going to terminate, I still wanted to know for sure if there were going to be any concerns that I needed to prepare for. When we received the call a week and a half later advising that our baby did indeed have Ds, we were completely shocked. Not having had one positive test for chromosomal abnormalities before hand, created the shock. So, what I explain to mom's is that odds mean nothing to me in terms of defining my likeliness to having a child with Ds. Similarly, just as less risk by percentage can end up being the one that has Ds, the same is true. Having a 1:3 risk can mean your baby will be typical and not have Ds. At the end of the day, testing does create an emotional state without a doubt, and while I believe that the testing is helpful if you have a plan on what to do with the information once you get it, otherwise it causes most a lot of stress. Depending on what you wish to do with the information that you receive or can possibly receive from further testing, might help you to decide on how to proceed with what kind of testing or if even you wish to have further testing. I can certainly provide you with what types of testing and screening is available to expectant mom's but I am sure your health care provider will provide you with the same. If you wish, you can take a look at this site in the mean time: http://www.genetics.edu.au/pdf/englishpnt.pdf
I also have lists of markers that are observed for with respect to Ds on ultrasound if you wish. I also have a blog which talks specifically about a typical family's life raising a baby - child with Ds (http://www.welcometoourhouse-myjournal.blogpot.com)
As the above poster mentioned, try not to get worked up (though hard and completely understandable) until you have further information. Know that whatever happens, there are resources, help and lots of willing people to guide you no matter what the results. I am one of those people willing to lend an ear and a hand. Please do let me know if I can help to answer any questions you have regarding further testing, screening or even about Down syndrome. I have been in the same place you have (through all the testing) and I am actually going through it for a second time as we speak. I have an amnio scheduled for this coming Thursday 6th Jan. so if you have questions about Amnio's, I can help to answer those too.
You are not alone in this!
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader
Dear mrscaptain, do not let yourself get worked up by this; you should wait til you see your physician and try not to worry; it is still a low chance your baby will have the condition anyway. I know this is a personal question but did you conceive naturally or have fertility treatment? I wish you my best.
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