so i went to my first doctors appointment a few days ago and it turns out im further along than i thought i was.. i had estimated i was between 8and 9 weeks along and when my doctor did the ultrasound she said i was actually about 12 weeks.. i was told that i would be called from someone from a different doctors office to perform my 18-20 week ultrasound to find out the sex of the baby.. when the guy from that office called at first he thought i was calling for first trimester screening and then was like o0o nevermind your too late for that .. so does that mean i cant be tested to see if the baby has down syndrome or anything like that? this is my first pregnancy.. i didnt know that there was a time limit on something like that.. i would really like to know if the baby has down syndrome or anything like that before he/she is born.. can i still do that??
The nuchal screen has to be done between 10 and 12 weeks, I believe. I suspect they can't get you in this week and so it's too late. You can have the quad screen done at 16 weeks (a blood test) and the anatomy ultrasound at 20 weeks will also pick up some markers for DS. If anything indicates a higher risk for DS, you could have an amnio done.
Yes. There are several different tests that they do at different points during your pregnancy. Several of them cannot be done until much later.
Congrats on your pregnancy...and try to relax!
The blood test have to be done in a fairly small window otherwise the levels that are being tested for can be extrememly off. When they do the ultrasound they will undoubtedly look for markers of Downs etc, especially since you have no test results to work with. The blood test only gives a percentage based on an average of people. If it comes up with a higher possibility of downs etc you then go in for the more intensive ultrasound and if something is seen on that they may do an amnio. The test does not tell if your baby has anything just that it has a higher or lower chance of maybe having it.
Call back tomorrow and ask if you can still do the first trimester screening...I thought you could do it through 12 weeks. You can do an amnio at 16 weeks, but I don't think that's necessary. At your 20 week ultrasound they have a checklist of about 10 markers for chromosomal abnormalities, so if nothing else, that should ease your mind when they get to take a close look at the baby. Just try to relax and keep taking your folic acid. You will be fine. Congrats!!
Don't worry too much. The first-trimester test is not a very secure test, anyway - it will only tell you whether you have an increased risk, not whether the baby actually has Downs, and there is a very high rate of false positives. There is a second-trimester test that can be performed, but it does put the baby at slight risk. Sometimes, signs of Down Syndrome and other disorders can be detected during the second-trimester ultra-sound, so unless you have an increased risk for some reason, I would just relax.
The first trimester screen is done between 11 and 13 weeks, so if you are 12 weeks and they can get you in immediately then it is not too late. Beyond 13 weeks the results are not accurate. I think the only non-invasive option left for you is the quad screen http://www.americanpregnancy.org/prenataltesting/quadscre.... But the results are not as accurate. Ask your doctor for more details.
Congratulations on your pregnancy, that is so exciting! I am not sure about the accuracy of the tests after the time window. But, I urge you and all the preggo mommies to be to demand genetic testing. I wish I knew to do it. I have a healthy 4 year old son. I also have an 11 month old daughter who 6 weeks after birth we were blindsided to learn she has a terminal neuromuscular disease, spinal muscular atrophy. It is the number one genetic killer of babies, yet no one has heard of it, and ob-gyns don't routinely test for it unless you demand it. It is the most common, rare disease if that makes sense. 1 in 40 people are carriers. Please mommies, demand genetic testing. I wish we knew to do so. Good luck and congrats again. A genetic counselor can't tell you the likelihood of having a certain condition, only a real test can. . Oh ,and just because you have no family history of any genetic diseases does not guarantee you a healthy baby. We had no history of anything and we both have extensive families. Now we have a terminally I'll child, all because we did not know to get testing done. We assumed we were having a healthy baby because 1st trimester screening came back ok.
Talk with your doctor about possible tests, what they screen for/diagnose and when they can be done. There are more testst than ever available now.
My daughter is 13 weeks along and has had several tests, that either weren't available 10 years ago when I was pregnant last, or I didn't consider doing. So I'd advise talking with your doctor to be sure of your options.
I had an amniocentesis done at 16 weeks to diagnose Downs and other possible genetic abnormalities.
yes. but there are certain tests that have to be done at certain points in the pregnancy.
the first trimester screen is around 10-11 weeks.. they do an ultrasound and take a blood sample -- you can still have an amniocentesis done at 16 weeks. long needle in the belly. hurts for a minute.. but the results take 2-3 weeks.. which is a long scary wait.
talk to your dr.. ask lots of questons.
Updated
yes. but there are certain tests that have to be done at certain points in the pregnancy.
the first trimester screen is around 10-11 weeks.. they do an ultrasound and take a blood sample -- you can still have an amniocentesis done at 16 weeks. long needle in the belly. hurts for a minute.. but the results take 2-3 weeks.. which is a long scary wait.
talk to your dr.. ask lots of questons.
Yes, there are time windows during which certain screenings can be done. Speak with your doctor or a genetic counselor about your risk factors for whatever abnormalitiies that you are concerned about. If you are under 35, your risk of Down Syndrome is VERY low. Unless you have some specific risk factors or family history of genetic abnormalities, something like an amnio is NOT worth the risk - chances of miscarrying from it are higher than your chances of having a baby with Down Sydrome, spina bifeda, etc. Also, the 18-20 week ultrasound is NOT to find out the sex. It is a medical anatomy scan.
Your doctor or a genetic counselor can give you information on your likelihood of having a baby with a specific condition and the risks of any testing to screen for that.
