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2nd Trimester
How many of you did down syndrome testing?
Had my 16 week appointment today! Everything went perfect 
Hearing my LOs heartbeat always makes all the worries go away!
My doctor asked me if i wanted to do the down syndrome blood testing at all! She said i'm so young (21) with no history on any sides of the families that it's pretty pointless, and she also said she doesn't recommend it unless needed.
How many of you did it?
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Re: How many of you did down syndrome testing?
She was saying that with family history. I guess i should read up on it. She didn't give me TOO much info.
I did not get the testing done...I did not ask my doctor her opinion one way or another. The form they gave me for the testing stated that if it the results say the risk is high it doesn't mean they have it, and if the results say the risk is low, they could still have it. Whether or not the risk is high or low it will not change anything, so I decided not to do the test.
I did - both the NT scan and the maternit21. I've never entirely understood the reluctance to find out. I think information is power. While my husband and I were one of the couples who would have terminated if there was a problem, even if abortion isn't an option, you can use that information to start arranging early intervention, physical therapists to help your child with DS suck, etc.Caring for a newborn with Down's or other trisomies can be incredibly difficult - I imagine anything you can set up in advance is helpful!
Not me.
A) I would never terminate due to something like this
C) It just gives you probabilities. I am a person the needs definitive answers and I don't like proablilities.
We did the nt scan, I just did it to get to see my baby again. Everything came back fine. But I do know that sometimes the numbers do get women worried. My SIL got it done and got pos results and she is young, she was really freaked out. Her A/S did not show any other markers, so they lower the chances a bit. You just have to remember that its not a diagnosis.
Exactly this. After you find out, you can't prevent any of it.
This. Exactly.
That was my thought process...I'm still doing research about downs and different genetic problems that could potentially happen with the baby, but I would freak out if the results came back high and would wind up being a complete basket case for the rest of my pregnancy.
This is exactly why I didn't do it either. It seemed like just one more thing to stress me out during pregnancy if the results came back high and there was nothing to actually worry about. The only reason I considered doing it was so we could be prepared just in case.
I'm 22 years old (but was adopted, but as far as immediate blood family, there isn't anyone who has a chromosomal defect that I know of) and I didn't do the blood test/screening just because my husband and I felt that there was really no point as to finding out before the birth as there would be no termination of pregnancy no matter what.
At my A/S ultrasound they found that one of my baby's femurs is shorter than the other, but not by much. It was only measuring about a week behind, but it still is worrying me. I have another ultrasound today to see if the leg has grown or if it was just a mistake that the tech made.
In the end though, I wish I would have had the screening/blood test done, just because I don't think I'd be worrying this much about it/I would feel more prepared kwim?
If you are like me, and you worry about things that may or may not mean anything (like a femur being a week behind in growth), I would get it.
Don't feel selfish! You are putting your mind at ease! I would rather have "wasted" the money on the test and felt at ease than to go through what I am right now! Good luck!
I did (I'm 30), we were also very low risk but for us it was to ease our minds, or if it did turn out badly then at least we would be prepared (luckily everything was perfect).
at 21 though I think I'd probably pass on it.
We did the blood test at 12 weeks only because of my age (34 now, will be 35 when I deliver). We have no family history but we wanted to be prepared if something was wrong.
I am also considered high risk since I am on prednisone for my Crohn's disease. So I'll take any extra testing.
I did, but only because at my ultra sound they found an isolated choroid plexus cyst. They aren't harmful, but can be a soft marker for trisomy 18. Our test was a big relief for us because the results were 1 in 99,000 for trisomy 18, and 1 in 20,000 for down syndrome.
If they hadn't found the cyst on the ultra sound, we woudn't have done it. I've read that the test has a high false positive rate. So if there's nothing wrong on your ultrasound, why risk cause yourself undue stress.
This exactly.
As a few people mentioned, it is not just for DS, but many other chromosomal abnormalities, some of which may be life threatening to the baby. And they have nothing to do with your age, or your family history of births, necessarily. Sometimes it could be dormant traits that you and your DH both carry, unbeknownst to you, that when combined could be devastating.
I just do not understand the mentality of "Well, I wouldn't terminate anyway, so whats the point of having the test?" I wouldn't terminate either, but I sure as hell would want to be prepared to have a special needs child. I would want to be able to research the disorder, find out what treatments or medical care will be covered by insurance, find an OB and pediatrician who specialize in said disorders, and make sure I have the emotional support I would absolutely require. Do you really want to have to figure all of that out during your baby's first days of life? To have that bonding interrupted? Leaving things to chance is just irresponsible, IMO. Knowledge is power.
Cole Joseph 7/05/07
Nora Anne 11/03/12
9lbs, 6oz
I did the standard testing here, NT ultrasound and two blood tests. I haven't had results back yet, have an appointment in a week.
I can't view it as a little thing - I had a brother die at 7 months from a genetic disorder (a deletion on chromosome 22) that has a similar severity profile to down's syndrome - one of the things possible in both is heart defects of different levels of severity. The experience almost broke up my parents, and I really wouldn't want to go into something like that without warning at least. I don't know what choices I'd make with a bad screening test, exactly, but I can't dismiss it as no big deal. And the tests initially are non-invasive, and hopefully will make the odds so vanishingly small that I can assume the kidlet is normal.
This is exactly why DH and I are going through more testing right now. I want my first days with my LO to be spent with my LO, not on the phone or computer scrambling to find things I could have had in place weeks before he was born.
This exactly.
I did it.
At the very least I wanted to be as well prepared as possible. That said, if the issues were very severe I probably WOULD terminate. But I really couldn't say unless I was in that position.
Like PP's said, information is power. Terminate or not, the more prepared you are for any issues (as well as your medical team), the better.
This. My MFM/Ob office does this as a matter of course with IVF w/ ICSI babies as the risk of birth defects is slightly higher than normal with ICSI.
Me: 32 - Stage II Endo / DH: 36 - Low count and morphology (1%)
IUIs 1-3 BFN, lap Dec. 2010, IUIs 4-6 BFN
IVF w/ICSI #1 - ER 2/8: 24R 19M 9F ET 2/13 2-5 day blasts (no frosties) = BFP - b/g twins!
E & C Born 10/19/2012
I didn't read everyones posts so if someone said this I apologize. I am in a hurry to get to the pool and cool my DD and I off...Where I am from you get your ultrasounds done by a high risk specialist no matter what. The only ultrasound that you get in your OB/GYN is our intial internal to verify you are in fact pregnant. We were not going to do the testing because it didn't matter to us. We weren't going to end the pregnancy or anything like that if something came back as a possibility. Because that is all those tests tell you is that you have a 1 in whatever chance of possibily having that. However at the high risk you can opt out of the 13 week one but you are required to take the one at 20 weeks no matter what. If this is similar to the situation you are in then it was suggested to us that we start it at the 13 week one because it just makes it easier on us. The only thing is you have to go to the lab twice.
As far as when the doctor thinks you may need it. There is no way unless they see something in the 3D or 4D scans which I am not even sure is possible to indicate that your child has downs or any of the other things tested for. So it is completely up to you. If you feel you would be at ease getting the test done then get it done. Don't let anyone talk you into or out of getting something done. It is your body and your baby make the decision that you want. I hope that this helps and best of luck on whatever you decide.
Unless you have been in the shoes of someone like myself - YOU.HAVE.NO.CLUE!
Ok, but you can educate and prepare yourself. There are additional tests they can perform to determine conclusively depending on the results.
Roxy - I'm so sorry for the loss of your beautiful daughter. My son's abdominal organs were formed outside of his body and we also had to terminate for medical reasons. We found out at our A/S, as we opted out of the NT scan because "we would never terminate anyway". No one knows how they would react or what decision they would make until the unthinkable is staring them in the face.
BFP - December 31, 2009
18 week ultrasound showed BOY, but several complications. No heartbeat at 19w4d. Stillborn on April 21, 2010
Started seeing an RE December, 2010: 6 failed IUIs, 1 failed IVF
September, 2011: FET, transferred one 3-day embryo = BFP on our anniversary! 6w5d baby measured behind with a low heartbeat (84bpm). 7w5d no heartbeat, no baby in sac. D&C November, 2011.
November, 2011 - March 2012: BREAK. Started gluten-free in February, 2012.
March, 2012: FET, transferred one blast = BFP! Beta #1 = 240, Beta #2 = 550
I did say that I wouldn't terminate, but I guess I was speaking more along the lines of Downs or a life-sustaining condition. If I were to face what you did, I absolutely would have made the same choice. There is no way I would want my child to suffer in agony for my own selfish desires, and prolong the inevitable.
I am very sorry for your loss
Cole Joseph 7/05/07
Nora Anne 11/03/12
9lbs, 6oz
I'm a little irritated with how doctor's portray down syndrome (and the other trisomies) as inherited. They ARE inherited in the sense that it is a chromosomal abnormality, passed from the egg or sperm to the child. This random error (called "nondisjunction"), happens while the egg/sperm is forming and is NOT passed down through families. While some families may have higher incidences of this type of mutation (trisomy) in the egg/sperm development process, not having any relatives with a trisomy disorder does NOT mean your children are "safe." It is a random mutation and could literally affect anybody.
Odds of this type of mutation do increase greatly with maternal age, so you do have that in your favor. I, too, am surprised this was mentioned at your 16 week appointment, as it is now too late to do the NT scan, which is the most reliable screening method.
BFP 08/14/13 EDD 04/18/14 Natural MC 08/19/13
BFP 10/15/13 EDD 06/24/2014 Natural MC 10/23/13
Recurrent Miscarriage Panel done 11/06/13. Results= All normal
BFP 12/2/13 EDD July 30, 2014
Beta 12/3/13: 19,261!
U/S 12/13/13 heart rate 143 bpm!
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