Question About down Syndrome Testing During Pregnancy

Updated on December 15, 2014
M.G. asks from Los Angeles, CA
9 answers

Hello everyone this is my 1st time asking a question, I hope I get some help.
I'm 33yrs I have a son 14yrs at birth he was diagnosed with Down syndrome, during my pregnancy I did get a test done and it did come out positive 4 Down syndrome they sent me off 2 get further testing liquid from my belly, but when I arrived 4 testing they didn't do the test they did an ultrasound measured the baby and said the baby looks normal that I should go home so I did go home. When my son was born he did have Down syndrome. I'm just wondering when u test positive they must do further testing no matter what correct?

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B.C.

answers from Norfolk on

You're wondering this now 14 years after the fact?
I have no idea what the guidelines were where ever you were 14 years ago.
Why is it important to know now?

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J.C.

answers from Philadelphia on

No, it is always the ultimate decision of the mother if she wants to go for further testing. Many mother's would not terminate anyway so they chose not to have an amniocentesis which carries a small risk of miscarrying after the procedure.

@Dianne B...ultrasounds can pick up babies that are at an increased risk for Down Syndrome. Although an ultrasound is not conclusive, having the "markers" present (Nuchal fold measurement, pinky finger bone measurement, and specific heart and kidney abnormalities) increases the odds that the baby has DS.

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J.S.

answers from St. Louis on

I am having a hard time understanding why this is a concern since your son is now 14.

Still all of these tests are optional. So if you are trying to figure out if a doctor or hospital has any liability for your son's condition the answer would be no. If you had insurance or the money to pay for the test you could have demanded it but they didn't have to just give you the test.

Sorry if this isn't the answer you are looking for but your question is rather confusing

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T.F.

answers from Dallas on

I don't understand why you are asking all these questions now, 14 yrs later, unless someone has put the sue happy bug in your ear.

Even if you try to sue now, it is probably past the statute of limitations and I will say from experience of being on a jury when someone was suing someone else..... the jurors see the person suing as money hungry and you have to have a super solid case of negligence to convince most jurors otherwise.

On the case I was on, which is different from yours but just so you know the train of thought.... we awarded the person suing $1 so the case would be completely closed.

All that aside, why are you researching the tests now? Further testing is not required and as a pregnant mom, it is up to you to communicate with your doctor so you are on the same page as far as testing, further testing and more.

Best of luck to you!

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S.H.

answers from Santa Barbara on

Nope. You do not need to have the test at all. Many parents choose to not know until birth.

Did they ask you what you plan to do if you have a baby with downs? If you said you would NEVER abort, they may have felt the risk of miscarriage with the amnio (liquid from belly test) would not be wise. The amnio would have been conclusive. You didn't actually test positive, your results came back with an increase risk of downs (screen positive). Do you recall the odds? 1 in 200 or 1 in 2 for example? If it was 1 in 200 they may have felt the amnio could cause a miscarriage and abort a non downs baby.

It sound like your baby had increased odds for Downs (screen positive). Then they measure the back of the neck and felt he was not at risk (yet sounds like they were wrong). Doctors are human and wrong a lot.

In California they have the test for all pregnant women (i believe there is a charge and it is by choice). So 14 or 44, they get the opportunity to have combined screening. They can opt out.

http://www.peninsuladiagnosticimaging.com/Prenatal-Servic...

This is very helpful info to read (I do not think it is 14 years old though and each year that passes humans get further along in detecting things):

http://www.peninsuladiagnosticimaging.com/file/Patient%20...

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J.B.

answers from Boston on

No, they don't.

The first test you have didn't test positive for DS, it indicated that bloodwork like your correlates to a statistically significant correlation with other women whose children have DS (or another chromosomal abnormality). It's a screening and returns many false positive results. I had one screening that indicated that my risk of my baby having DS was 1 in 200, when the average for my age at the time was 1 in 5000, so that was a "positive" screening. I did opt for amnio to know for sure and that showed that he had no abnormalities.

The second test that you did not have was amniocentesis and is the only way to know in utero whether or not a baby has a chromosomal abnormality for sure. It's routine to *offer* the test after a positive screening, but you don't have to have it done and they sure as heck can't force it on you. If you really wanted to have it done, you could have. The test carries a risk of miscarriage so they looked at the best information that they had and made a recommendation to you to not have the amnio, which is the recommendation that you took. That doesn't mean that they gave you poor medical treatment or bad advice, or that you made the wrong choice in opting to not have the test.

@Karin H I think you're confusing Down Syndrome with cerebral palsy. DS is a chromosomal abnormality. There is nothing a doctor can or can't do that would affect whether or not a baby has DS.

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D.B.

answers from Boston on

Why were you considering testing for Down at the age of 18 or 19?? It's really never done then unless there is a strong family history or other indicator.

Is it possible you were just so young that you were confused about why you were going in for testing?

In healthy young women, an ultrasound is common to show fetal growth, placement, and the possible presence of more than one embryo. It can pick up certain conditions but not genetic ones - it's not going to pick up Down Syndrome which, along with other chromosomal abnormalities, is determined via amniocentesis. A needle is inserted into the amniotic sac for the removal of some fluid to be lab checked for chromosomal abnormalities. It's nothing they can "eyeball" and it's not usually recommended under the age of 35 (and sometimes not until 40, unless there's a history of DS) because there's a risk to it. It's invasive and there's a risk for miscarriage. It's done in the 2nd trimester and never in the early stages. The other thing that is sometimes done earlier is CVS but even that is risky and only tests for certain things.

I have no idea why you are asking this question now - even if you are considering legal action, I'm not sure if the statute of limitations has expired. You'd need to consult a medical injury attorney if that's your motivation. If you aren't contemplating legal action, go back to your obstetrician and ask about what tests you had, and why.

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J.C.

answers from Anchorage on

When my triple scene came back positive we did an amnio to test to find out for sure. I think they have better tests now though then they did back then.

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K.H.

answers from Richmond on

if the doctor was supposed to do the testing but didnt, check your doctor billing statement very carefully, yes, even if you have insurance, because the doctor might have charged you for it , but didnt perform it..thats fraud.you can sue the doctor for neglecting his responsibilities of informing you of potential problems..talk to a lawyer because downs can have many causes, drugs the doctor gave you during pregnancy, labor or delivery or easily avoided complications during delivery are just some of the potential causes..K. h.

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