What are everyone鈥檚 thoughts on genetic testing?

Hi I鈥檓 9 weeks pregnant right now and seriously contemplating weather or not I would want to have CVS or an Amniocentesis done. I guess I was just hoping to get some other opinions on the matter so I can become more educated on the subject. Thanks

I am also opting out of the quad screen because I think that no matter what I wouldn't terminate my pregnancy. And I will not have CVS because the miscarriage rate is 1 in 100, or amnio because the miscarriage risk is 1 in 200 and since I have been having spotting my whole pregnancy so far (I am 14 weeks now) I would rather not risk it. So, for me, I don't want to be worried by the quad screen which often gives false positives anyway, and I know that I personally deal with things better as they are handed to me, and that I would just stress for the rest of my pregnancy if I knew or thought something was wrong.

I didn't have any of the blood tests done for birth defects and that...in my state they have to ask you if you want them done but I said no...It doesn't matter to me...If something is wrong with my baby I will love him no matter what...I guess I'm mostly like this because I have an older brother with autism

My thought is that the results of genetic testing would not change my feelings about my baby, i would still keep her. i waited until my 16 week quad screen to see what levels were elevated. If any levels were high and showed my baby to be at risk, I was going to go ahead with the amnio. This just so that I can mentally prepare myself for the special needs my baby may have. Thankfully, the quad screen was normal and I never had to worry about it.

I hope this helps!

I'm not pregnant now, but will be getting CVS. It has a slightly higher miscarriage rate, but at the same time, if there are abnormalities, termination has fewer complications. Let's you get on with enjoying your pregnancy if all is well.

Now, what won't you find out with CVS. You won't know if your fetus has spina bifida or other neural problems. You'd have to have amnio for that (It doesn't become apparent earlier because it is a development defect rather than a genetic one). I am reasonably comfortable that I could wait to get the regular testing for that since older moms are at no more risk for NTDs than younger ones. I am at slightly higher risk for an NTD, but at more risk for two genetic problems. Some NTDs can be repaired today that couldn't be done 10 years ago. Amniocentisis is usually done between 15 and 18 weeks pregnancy. Results often take 10 days. However, recent stats indicate that current techniques have reduced the chances of miscarriage (it is no higher than the background rate now). So, while later in pregnancy and slightly safer, it gives you more information. However, if the news is bad, later terminations are harder on you both physically and emotionally.

Both the CVS and Amniocentesis tests are very accurate because they are based on direct DNA. The blood tests that some folks are referring to are indirect, so do have errors.

I have 2 children and pregnant with my 3rd, I have never taken the test because I would love and care for my child no matter what the health condition.

From another stand point I maybe should have had one done so that if something was genetically wrong I could prepare for it and know what I was expecting.

Also, I have heard of these test having a high percentage rate of being wrong.

I haven't had either of those two tests, but I've done the AFP, first trimester nuchal testing and, obviously, ultrasounds. Which, contrary to their popularity as a means to find out the sex, are actually given to check and see if the baby is OK, if it has a neural tube defect, how the blood is pumping, if he/she has all his/her parts etc.

My personal opinion on these tests is this ... I don't believe I would abort if they showed something negative, the tests can always be wrong, but having them and getting a "clean bill of health" makes me stop worrying as much as I would if I didn't know anything. And, if God forbid something did show up, I would have time to prepare myself and not have it come as a shock on baby's birth day.

That being said, I would never do an amnio unless I really had to as there are serious complications that can arise from one, including the death of a perfectly healthy baby.

One of the most important test in the pregnancy are done between 15 and 20 weeks of the pregnancy. Of course, they offer you the test which is called Alpha Fetal Protein Test (blood work-AFP for short). The AFP is only a screening test to check for abnormalities such as Open Neural Tube Defect, Down Syndrome, Trisomy 18 and Smith-Lemi-Opitz Syndrom. It its not 100% accurate its only a screening, if its positive (abnormal), it became positive because of the patients age, not sure about your dates, ethnicity, patients weight and etc. If so then they would refer you to Genetic Counseling, where they will-should perform a detailed ultrasound, give you counseling and offer some more testing which they would explain to you the risk. Its not mandatory to have them done, its all up to you if you decide to have the tests' done. I feel its good to know on time that way you can think of the options and decide what you want to do if anything.

The risk having a spontaneous miscarriage after an amniocentesis is about 1 in 100. At age 40 the chance of having a baby with Down Syndrome is about 1 in 100. So if you're under 40 you have a greater chance of having a miscarriage because of the amnio than you do of actually having a child with Down Syndrome.

The current test that is done with amnios are not able to identify whether or not a baby has Down Syndrome, but rather what the odds are that your child will have DS. When you get an amnio done, most labs will report either a positive or a negative test. They may or may not give you the statistics they based that on. And the chances of having a "false positive" can be as high as 7%.

Basically, if you intend to keep the baby no matter what the results of your amnio then it is an awful big chance to take for a test result that might not be accurate...and it would probably be better to wait and see when your baby is born. If you would terminate your pregnancy based on the results of the tests, then you may want to get it done especially if you are in a high risk category (family history of DS, or over 40).

The best thing to do is talk to your partner and your doctor and then make the decision that is right for you.

I wish they never would have discovered it. I was a "mature adult" and there were tests that came back saying my child was retarded. I did the amnio for more precise results. It was 2 wks of HELL.......if anything it sure tests your morals and values. I had decided if my child wasn't "normal"....I wanted it anyway....

She ended up being totally Normal and beautiful and smart.........THANK GOD I didn't listen to their first reports......