Genetic test for 41 year-old pregnant mom?

Question

Dear ALL,

I am seeking the help here. My situation is that: I am at week-21 pregnancy, and I am 41 years old. The 2-D untra sound (done at week-20) showed that everything is normal for the baby. The blood screening test came back that the risk for DS is 1 in 120.

The doctor said that I do not need to go for genetic testing, but os course he cannot ensure anything. I am working in a Caribbean island, and need to fly to Miami for a genetic test.

I am very confused what I should go ahead now. Your feedback and advices regarding this matter are greatly appreciated!

Thanks,

Cheng_M

Dragon1973 · Accepted Answer

Dear Cheng_M,

Congratulations on your pregnancy!  My name is Sandi and I am the Community Leader for the Ds forum and also the Genetics Forum (along with a few others).  I hope that I can help to answer any questions you have regarding your testing for Ds.  I have a son who was prenatally diagnosed via Amniocentesis with having Down syndrome.  
Firstly, your screening results of 1:120 are very good still despite sounding low.  In other words, you have less then a one percent chance according to fetal screening assessments.  The issues I would pass on to you are as far as knowledge that can help you make decisions are, ultrasounds like all other screening are tools to help assess and indicate the possibilities.  The are not definitive diagnostic tools, and can't determine absolutely if your baby would have Ds.  The reason I mention this first is because often times mom's undergo ultrasounds that show no markers at all for Ds, and have babies with Ds.  I am one of those mom's who at near the 21 week mark showed an absolutely perfect ultrasound.  This doesn't mean that you should automatically worry that your ultrasound isn't right, or that your baby has any chromosomal problems - but it is important for me to clarify that just as there are false positives in screening, there are also false negatives.  
Having prenatal screening is a process that allows doctors to advise women on whether they can or should move onto the next level of screening or testing.  For a person like me, I needed to know one way or the other, regardless of the fact that we would not terminate.  Many people make decisions to test for very different reasons.  Some need to know because they do not wish to continue a pregnancy if there are chromosomal abnormalities  - which in that case, they would have to have a definitive diagnostic type test such as an Amniocentesis, CVS or PUBS.  
Some woman argue that if they will not terminate, there is no reason to have this kind of testing done because there is an added 0.5% risk of loss added to an already established risk.  For many this risk outweighs the benefit and visa versa.  On a personal level, my husband and I were so very glad we had the testing done.  It allowed us to prepare and also educate our selves and family members to our sons Ds and what to expect.  In turn, I am now a genetics parent guide and help people who receive diagnosis of Ds.  
Depending on what you would do with the information often dictates what way your decision would go.  If you are anything like me, (A need to know type of personality) then perhaps getting the Amniocentesis is the way to go for you.  If you are worried about the risk, I would suggest having a higher level ultrasound, that looks specifically for Down syndrome markers before having an Amnio, and save that for a last and absolute resort.  I do have a list of markers known for Ds, that I can send to you via direct message - (it's quite comprehensive) and you can opt to have a higher 3D/4D ultrasound to help look for these markers.  IF at that time, any markers are seen, then you might opt to move on to a more definitive type of test such as the Amnio.

You can also opt to have other blood screening done, as you are in your second trimester and also into your third trimester.  These blood tests check levels which correlate to the possibility of your baby having a chromosomal abnormality.  Remember there too though, there are false positives with those types of tests too, and often doctors use these blood tests in conjunction with ultrasounds to recalculate risk and odds for Ds.  

One additional thought is, after you get these other screening tests done, you could opt for the Amnio later on in your pregnancy - which is said to decrease the risk for loss.  Many moms opt for that if they know that they will not terminate, but that they need to know in order to prepare for their little one's arrival.

I encourage all mom's who are curious about Down syndrome to visit my website, where they can learn additional REAL life information and see for themselves what it is like to have a child with Ds.  Oddly enough, many people do not realize that having a baby with Ds (today as oposed to 20 years ago) is not what they think or envision.  Our son is smart, beautiful and very capable.  Because Early Interventions have come a long way, our son is as typical as they come.  
(http://welcometoourhouse-myjournal.blogspot.com)

This can be a very confusing or stressful time, but I tell mom's do not worry unless you have to.  Having odds for Ds doesn't always mean what you think.  I had odds of 1:385 - which was based on my maternal age of 35, and nothing was seen in ultrasounds or blood work.  I just happened to be that one in 385!  I have met mom's who were 1:5 odds and had a typical baby.  So, I like to remind mom's not to put too much into the numbers.  They are just numbers, which are used to help assess what to do next.  Without a test that can tell you 100% (such as amnio, CVS or PUBS) there is no way to know for sure.

I hope that this doesn't confuse you more then you already might be.  If you have anything else you wish to know, please do not hesitate to ask, or send me a direct message.  (If you wish to have the list of markers, please send me the direct message - and remind me of this post).  Also, if you are able to call me, I have a number to which you can contact me at anytime.  (That I will provide in a direct message though).

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

Masud1993 · Answer

Is it possible for you to give me a call today after 5pm I have a few questions for you regarding Ds. 954-266-9831 Nat

hazeleyes1378 · Answer

just wanted to know how everything went..im sarah i have a 15 year old daughter with down syndrome,i was 19 yrs old when i had her,i was having issues during my pregancy but dreamed she was going to be ds,crazy as it sounds and she was...she is my world and i wouldnt change it for nothing even though it is hard at times

CHENG_M · Answer

Dear Sandi,

I am fully impressed with your EXTREMELY informative and helpful message. Thanks a lot for your time in writing this, and I read your writing carefully and visited your great website two-days ago.

As your message indicates, we are all taking about the possibilities based on the screening test and untrasound. It seems that it is too late for us to run a genetic test now in considering the latest termination time is 24 weeks in the US and the baby is in the week-22 gestation now. The previous 4-D ultrasound (I need to correct myself, and it was 4-D, not 2-D sonograph) did not show any abnormalities, and we are requesting one more 4-D ultrasound in two weeks. This would narrow down the rates of false-positive and false-negative. We pretty much decide that we are hoping for the best, and do not do anything now. We will keep you and this forum updated as we move on.

Thanks a lot for your wonderful help!

Chengming_M

Genetic test for 41 year-old pregnant mom?

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