My husband is urging me to have prenatal testing done to determine if our unborn fetus has downs syndrome or other birth defects. I have done some research, but have not yet had a chance to talk with my doctor, so I wanted to know info from other women who know more about it or have been through it. I am not at high risk. I believe the following are relevant facts:
- age 30, husband age 31
- 10 weeks pregnant today
- first baby with current husband (daughter born 4 years ago with ex husband, healthy)
- no history of birth defects on either side of our family
Can the testing be done in the first trimester so we have a chance to determine what to do at that point? Everything I am reading says the tests are performed in very beginning of the second trimester (about 15 weeks). I am also finding a lot of info talking about an increased chance of false positives.....this obviously concerns me.
Just trying to collect more info on the testing done, helpful suggestions, etc. Thanks in advance moms!
i would not do amnio. 20% risk rate of miscarriage. sonograms and blood test i did and they were great rule outs. i had a healthy baby girl at 38. honestly at 30 i would not even bother.
The nueral transluency needs to be soon like before 12 weeks, so you better get it now if you want it. The level 2 as 18-20 weeks. We did both with blood work at the first visit
The screening tests are all over the board, and sometimes yield worrisome results when there is no reason to worry. The only 100% accurate tests are CVS testing and Amniocentesis. With amnio you have to wait awhile -and it's too late for decisions really unless there is something completely and detrimentally wrong. CVS testing can be done on you NOW. Many doctors don't talk it up because usually a specialist has to do it. Both tests carry some risk of miscarriage and IT IS NOT 20%!!!!! -this is false information!, but it's not extremely high. Given the statistics you provided, there's no reason to think you really need either tests. Of course anyone at any age can have a child with genetic defects, but your doctors probably aren't going to push any testing for you.
Talk to your doctors about your concerns. Most doctors give you the option for genetic/prenatal counseling where you can discuss more tests with them further.
And finally -don't let anyone else's judgmental-sounding comments influence you one way or another. Prenatal testing and termination or non-termination is VERY personal and only your business. I get somewhat irked whenever someone on here posts a legitimate question and gets a bunch of people saying, "WHY?? Don't you want a baby God has given you no matter what's wrong with it?!?!" It's none of their business if maybe you or your husband have real issues with raising a special needs child (because many people do for good reason). I had my amnio at 38, and most likely would have terminated depending on the problem if something had been terribly wrong. My first was born when I was 36, and they couldn't do an amnio because of his position. Knowing now about the CVS testing, I DEFINITELY would have it done that because you do know earlier and its much easier to make the choice to terminate if you want. At your age and with your history, there's most likely absolutely nothing to worry about, but please don't let other people make you feel bad about wanting to know or your husband wanting to know or any decision you would make based on the results.
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With the screening there is a very high false positive rate, if I remember right 3 out of every 4 positives is false, so if you take the test do not get freaked out by a positive result, all it means is that more testing is needed. I got a positive with my 2nd, and after the amnio found out it was a false positive. I wish I had known how many time they are false, because I was so freaked out. I do not believe they can do the testing any earlier because the fetus has to be far enough along for the test to work, but from my experience they made sure any follow-up testing was done before the termination cut off date in case that was what I choose to do.
After reading some of the other posts, I needed to add that the risk of miscarriage with an amnio is between .5 and .06%, or about 1 in 1000-1600. Talk with your doctor to get the most current stats on this. And the results should be back in time for you to make what ever decision is right for you, just mention to your doctor that you need the results before whatever your states cut off for termination is. That is a very personal choose, and no one one here should be judging you for being unsure (or your husband). If you decide to get testing (I did for both of my pregnancies, and i was in a low risk group) do the triple screen first, because even with the very high false positive rate, it is completely risk free to the fetus and a negative can put your mind at ease without needing to think about the other tests such as amnio that may pose a small but serious risk.
I did get the testing done for both of our sons. We too, were very low risk for down's and other birth defects based on our age and medical histories.
We elected to go for the testing knowing that we would not terminate even if we found something. But if something was wrong, we wanted to be prepared - gather all the info we could, get the best drs, look for day care facilities that would accomodate.
Fortunately, our test came back negative and we have 2 healthy sons!!
If we have any more children, we will choose to test again.
Yes, there is a chance of a false positive. In fact, both of my SILs had false positives.
It truly is a personal decision, best of luck to you and your hubby on deciding.
My doctor told me that he was going to have me do genetic testing, and I asked him why. He said that if there were any problems, then I could decide what was right for my family. I said no, thank you.
My cousin has severe cerebral palsy, and it was caused by a very traumatic birth. Until that point, he was healthy. We all love him and can't imagine our lives without our Jesse. Even if every test came back confirming that our baby would have some kind of disability, my husband and I feel strongly that the right thing for our family is to love every member of it.
If your husband is concerned about wanting to prepare himself for all the possibilities, that is one issue. If it is that he wants you to have an abortion if the baby is not 100% perfect (what does that even mean?), that is another issue. You need to find out what is in his heart and mind before going ahead with the testing.
My friend had the test done and it said there was a possibility that the baby had down's syndrome. (the results aren't 100% accurate so they'll never say for sure if they have it or not). My friend decided to have the baby and she is now a completey healthy adorable little girl. If you do take the test, be careful with believing the results. I would think its really only accurate if the percentage chance of the baby having downs is high. My friends was something like 1 in 100 chances that she is.
How come you want to be tested? You are too young to be in the testing range, not that you can't be tested it is usually done on older woman. When I was preg with my last I was 27 and they wanted to test for something and I said no and laughed it off. There is so much that a child can be born with that you and your hubby need to ask yourselves will you want a child born with anything?
There is no guarantee that a child will be born "healthy". My middle daughter has Autism, it used to scare me but If I could have known she had Autism when I was preg I still would have went through the preg and I can't imagine life without her. If it were me I wouldn't test but then again I am against abortion and I would keep the baby no matter what.
I have two children and did not get but blood screening tests with the two of them. The first one was perfectly fine with the test and the second one resulted in the false-positive test that was cleared up with the second level ultrasound specifically done to evaluate the target features of the fetus. As a result, I have two beautiful boys ages 2 1/2 and 7 months. I was 36 with the first and 38 with the second. Although I was on the risk factor age wise, my husband and I decided to go with whatever God was sending us to have. It is a personal matter and it seems your husband wants to be sure what the future baby's condition is. Based on that, the most accurate test is the Amniocentesis. It poses a tiny risk but is the most accurate in terms of genetic results. So, the normal procedure is that you Ob Gyn will send you to a parental guidance to discuss the different options vs risks you could have with the different evaluation tests and the time frame for the tests themselves. I personally suggest you to inquire all the information you may have to your practitioner in order to go for what you and your husband consider the best. Normally, at this point of your gestation, you already have had your first visit to the doctor.If not, schedule your visit and discuss your worries with you physician. Good luck.
There are now several different tests available, and each test has a different number of false positives - some have low numbers, others have high. Some can be done in the first trimester (CVS), others need to be done in the second. You need to discuss with the doctor the options that the hospitals near you offer before you make a final decision.
In the meantime, this is the advice my doctor gave me. She asked me two questions: What will you do if the results are positive? And are you a person who prepares, or a person who worries? Please answer these questions with your husband.
If the results are positive, will you want to do the second series of tests, which are more intrusive and risky for the baby? If the answer is no, then why get the first series of tests? Would you prepare yourself for the possibility of a handicapped child, or would you spend the rest of the pregnancy wrapped in worry? If you would do the next series of tests, what will you do if THOSE results are positive? Will you terminate the pregnancy? Will you begin preparing for life with a handicapped child? Or will you lie awake at night worrying over and over again? Only you know the answers to these questions, and whether a positive result would motivate you or cripple you. But these are the issues my husband and I addressed when we were pregnant, and the questions my doctor asked me really helped me to make the decision we felt was best for us. Good luck.
There is a range of time when they can do the testing. The reason for the minimum is that they have to be able to see correctly. It was an ultrasound and a blood test for me. If they find anything questionable, they do a second test. I think the earliest was 12-13 weeks when the baby is big enough to get the correct measurements, so get the test the earliest possible and talk to your doctor about options that will be available to you at that time to put your mind at rest.
My husband's cousin has down's, so we got tested. Everything was negative, and I loved seeing the extra pictures of the baby, but it can be nerve wracking to wait for the results.
Good luck, and let me know if you have any other questions about the testing.
Talk to your doctor because most women now have a Nuchal-transluscency test that looks at proteins in your blood and the baby's anatomy to tell you if you have a serious risk for birth defects like Down Syndrome. It doesn't tell you for certain, only an amnio can do that and you don't usually get that unless the non-invasive tests come back suspicious or you are over 40. I think the Nuchal test is done at the end of the first trimester around week 14 or so. I am sure your baby is fine but why not get the tests?
The range of options moms are describing is kind of stunning, actually, since the only option I had was the blood/ultrasound test at 11-13 weeks, plus a few more screening options that had much higher false positive rates/would only give you a risk. We did the ultrasound for peace of mind and in no small part because our doctor didn't have an ultrasound machine in office, so that would be the only ultrasound before 20 weeks, and that seemed too long to be paranoid (and to wait to see our baby!). So I would say that you need to ask your doctor - they may have specific options they recommend/offer and they may have insight on what insurance will cover.
Some tests are just screening tests (estimated the possibility of an issue), and those have high false positive rates. They are the ones that can be done earliest. If you wait until it is possible to do a level 2 ultrasound and an amniocentesis, then the results are accurate for genetic defects. Not all birth defects can be determined with any test, just those that are either visible and/or genetic like Down's.
(I waited until the amniocentesis, to avoid the false positive issue. I didn't want to be nervous waiting weeks for a confirmation. I was also 40 at the time I was pregnant which increases chances of Down's. Although more Down's babies are born to women in their 20s and 30s than in their 40s, because of the larger number of babies born to those groups overall.)
More importantly though, I would want to understand what your husband is thinking. Is he just looking for reassurance? What actions (if any) would he want to take if you discover a defect, and what type? You two should get on the same page with this before having any testing done.
I didn't have any birth defects testing done with my first 4 children and I was in my early 30's with the 4th but I was 36 with my last one (now 4 months old) and I did do the ultrasound test that can tell with high certainty if your child has birth defects. I didn't do any invasive testing because the risks of miscarriage were too high in my opinion. At the end of the day, you have to ask yourselves, "does it matter?". Does it matter if something IS found? Would you end the pregnancy? If not then don't test. If something comes up on ultrasound later then you can prepare yourselves for that if that time comes. Otherwise, just try to enjoy your pregnancy and remember that it's ultimately your decision.
