Genetic Testing

I got pregnant with my last son when I was 36. I had no genetic testing done and never even considered it. My doctor never even brought it up. I had a couple of amnios done but not to find out if my child was down syndrome. Myself, I would not have the genetic testing done. If the pregnancy goes fine-that is what matters. Once the baby is born and the parents hold it all other things do not matter. If the doctor feels that there is a problem with the development of the child then more testing is needed but if movement and heartbeat and all other things are good then the baby is healthy. I work with special needs kids and I love each and every one. They love the world so deeply and everyone else takes the very simple things for granted.

I suggest starting with this link:
http://www.mayoclinic.com/health/amniocentesis/MY00155

I conceived when I was 40 and our son was born when I was 41. I had amniocentesis because we wanted to be prepared for possible abnormalities. We are blessed that my old eggs were in good shape and our son is typical (meaning "normal", which I don't like to say).
I think that genetic testing is basically done for two reasons:
To prepare parents, like my husband and me, for the possiblity of abnormalities
OR
So people can make a choice to terminate a pregnancy due to their abilities to deal with abnormalities.

So, what I'm basically saying is that this is an extremely personal choice. She and her husband need to think about why they want testing.

The testing is fairly safe, and for me it was a breeze. The worst part was waiting for the results. My husband said, "We are NOT going to worry about it, until we know the results. Then we can discuss how we will handle things with our child." I think that was the most helpful thing of all while waiting for the results.

I disagree that people who have genetic testing are planning to abort if they don't like the results. The tests are a way to get information so you can prepare yourself if necessary. I personally think information is never a bad thing. I was 37 when I had my first child and had an amnio done. The doc didn't push, but I definitely wanted it because I knew I'd stress otherwise. The procedure was relatively easy (get an experienced doc who does lots of them) and 100% covered by insurance. We're now trying for #2 and I'll also want an amnio this time.

Hi E.,
Since I didn't see you ask for advice for your sister-in-law as to "what" she is going to do with the results of her genetic testing (that is completely a personal decision and theirs to make without ANY outside interference or pressure or judgements), I am just going to mention that there are 2 tests, one is the CVS test (Chorionic villus sampling) which is done earlier in the pregnancy (at around 11 weeks) and the amnio which is done later (at 16 weeks).
We did the CVS test and it is not terrible at all.
Best of luck to you and your SIL!

The first question that she needs to ask herself and seriously answer is If something is wrong with the baby am I going to feel pressure to abort this pregnancy or if I certainly would not am I going to be able to stand the pressure from medical providers, family, and friends over what choice to make.
She also needs to do some research as to the acurracy of these tests including false positives.
The most common one is either the triple of quad screen depending on what is done in her area.
I do know of cases where the mom has come up positive for a disease like cystric fibroses (a recessive disease-both parents must be carries and than it is a 1 in 4 chance) where the provider automatically sets them up for a meeting with a genetists getting the mom all worried that something is seriously wrong when at least in this case dad needs to be tested as well to see if he is a carrier.
For a lot of diseases and disorders if the blood test comes up positive than there is pressure to confirm with either a cvi or amnio-both involving a needle through the stomach. If she is at all squeemish or doesn't like needles I don't recommend this plus they do have a slight chance of causing a miscarriage.
Personally for both my pregancies I have skipped testing and I was 31 and 34 when I had my kids.

T.

Hi E. -

This is a sore issue with me - I have 2 perfectly healthy boys and from the screening tests, one would have thought I would give birth to salamanders.

All the tests except the amnio are statistically based and the results can get skewed easily. I had an amnio with my first because the screening test results were so scary.

With the second, we had a thorough ultrasound evaluation done and everything looked pretty normal - an amnio is diagnostic, not therapeutic so I declined the amnio even though I was 40 at the time.

I think that is a pretty personal question and hard to answer because the real issue is what she will do with the results. Some parents would terminate a pregnancy, buy different baby supplies, take classes, or start saving for expensive medical problems is their baby might have birth defects. When I was pregnant, however, I declined the tests for several reasons:
1) I'm a cup half full type of person. I assume that everything is fine and well until I find out otherwise. Therefore I believed everything was fine with my unborn child. (and it was).
2) No test is 100% safe. While very, very safe, there is a small chance that the test can cause problems with the pregnancy. The exact possible side effects can be obtained from her doctor.
3) No matter what the test said, I would not have done anything differently until I laid eyes on my child and saw any disablities for myself.
4) The test itself, and waiting for the results, seemed like more stress than I wanted to deal with.

Obviously, this is a decision your sister has to come to for herself. If it would set her mind at ease or somehow change how she prepares for the arrival of her child, it might make sense for her. Otherwise, she can decline it. Other genetic tests, like screening for the breast cancer gene or for common genetic illnesses, can easily happen after the birth of her child.

I had my first child when I was 36. Since I met the "35+" age requirement of most health insurance companies to qualify as a "high risk pregnancy", my insurance company paid for all the genetic tests. Looking back, I'm really glad I had the tests done. Pregnancy is stressful enough without all the additional worries about being an older pregnant woman. When all the tests came back negative, both my husband and I relaxed a lot more for the rest of the pregnancy. If your sister can afford them, I think she should go for it for the peace of mind. P.S. Our son is as perfect and even more beautiful than all the test results in the world.

I had my first child at age 36 and my 2nd at age 40. I chose not to have any kind of genetic testing with either pregnancy b/c there was no medical condition that would make me abort my child. Now granted some women like to have genetic testing, specifically testing for Downs, so that they can mentally prepare for it, but genetic testing for Downs is often innaccurate. It's really what your sister feels most comfortable with, but I do think most doctors tend to pressure women into these tests, so she should stand firm on whatever her decision is.

I found out I was diabetic after my first kiddo. With both of my next kids, they did the full round of testing. Both times they came back with high risks for things. They are both healthy kids. All the tests did was make me worry and not sleep due to bad dreams about all the what ifs. If we were to have another, I would decline all testing. If you're worried, I think a good, thorough ultrasound should be enough. Especially if abortion is not an option not matter what (as it was for us), there is no reason for the testing-an ultrasound would reveal anything that needs to be looked at further.

E.,
I must admit I only read few of the reponses posted so far, but wanted to say I was 33 when I got pregnant and did CVS at 11 weeks. It was a very easy proceedure and it was covered completely by my insurance, I called 3 times to check, but it was. CVS gave me piece of mind and happily everything was okay and my 4 month old girl is healthy and perfect. I did the test at University Clinics in Denver, they were great. I will do it again if I am lucky enough to have a second child. Good luck!

She'd only need genetic testing if she thinks she would take action if she had an abnormal test result. Some people just want to be prepared, but I cant' imagine getting test, because there's NO WAY I would "terminate" a pregnancy.

They're expensive, often not covered by insurance, and there are risks, too.

And they're not entirely reliable. Doctors do their best, but they aren't God. They don't know everything that will happen. Doctors told my friend to "pinch off" one of her twins, because she'd be tiny and deformed and sickly. They refused and she's just fine.

She can absolutely talk to her OB about it. But I think a lot of people opt not to get any because they feel the way I do and would never end a pregnancy.