What tests are you/did you have done?

there are so many and I'm so confused....I read up on:

Amnio
CVS
a triple screen for Downs, trisomy 18, and open neural tube
a Cystic Fibrosis test to see if either myself or DH are carriers (which I doubt we are since it is no where in our families)

Re: What tests are you/did you have done?

Actually, if you and Dh are jewish, you should definitely get tested for Cystic Fibrosis because it's more common in Jewish (specifically, Ashkenazi) populations.

Before DH and I started even trying we went to a local Jewish Hospital that provides free genetic testing for 10 genetic diseases that are common to Jewish populations. I really never would have thought of it except I have a very close friend who, right after getting pregnant, found out that she and her hubby both tested positive for a jewish genetic disease (Catavans). Thank goodness this time around the baby is safe, but from this point forth they have to be careful because there is a 1 in 4 chance that every baby they have will have Catavans.

After that, the only other test I opted for was the triple screen test. I was hesitant at first because I've since learned that many, many women get false positives from the triple screen test, which often leads to unnecessary amnio's. But, in our case, I'm really happy we did it because when the radiologist found a Choriod Plexus Cyst (which can be a marker for Trisomy 18), we didn't freak out TOO much because we knew our triple screen test results had come back normal. Amnio scares the hell out of me, and I would never do it until after I had gone through at the very least a Level 2 ultrasound to see if there are any other "markers" for any genetic defects.

Re: What tests are you/did you have done?

I am Jewish but DH is not. my family is also not Ashkenazi either...we reign from Germany and Poland

Re: What tests are you/did you have done?

Re: What tests are you/did you have done?

We didn't do any special testing. We figured what ever god gave us we will be happy

Re: What tests are you/did you have done?

I've opted out both pregnancies for any type of testing except the Level 2, of course.

Re: What tests are you/did you have done?

I had the Ultrascreen which is a combination of a sonogram measuring a certain part of the baby's neck and a Quad screen blood test. I think this test is relatively new and replacing the Triple Screen because of the incidence of false positives. This test is something like 95-97% accurate. However, even with those odds, I still received results of 1:5 for Down's all because of a transcription mistake! Human error can never be overlooked regardless of the test! Anyhow, I was prepared for the amnio (wanted to know to be prepared, but would have kept my baby regardless of the outcome); luckily the mistake was caught literally at the last minute.

Otherwise, I just had the normal blood work, ultrasounds, and I'm going for the glucose test in a week or two.

Re: What tests are you/did you have done?

We only did the triple screen.

Re: What tests are you/did you have done?

Message edited 5/24/2005 8:11:40 PM.

Re: What tests are you/did you have done?

I did the Ultrascreen and AFP. I just turned 35 (sunday ) and thought about the amnio but decided if both of these tests came back fine then I wouldn't do it....and they were fine .


About the cystic fibrosis test I think it's important to have it done. I was tested (and was negative) and I believe it was part of the initial bloodwork I had done. My SIL and brother just had a scare with this. My SIL found out she is a carrier (no one in her family has CF but you can be a CARRIER w/o having anyone who is a carrier in your family). My brother was tested and his idiodic drs office took a week and a half to give him the results.....thank god they were negative but they went through a rough week. Both parents need to be carriers in orer for it to be passed on but if both are carriers there is a 1-4 chance the baby willhave CF. Because my SIL is a carrier there is now a good chance my nephew (and the baby on the way) will be carriers too. It is a simple blood test so I would have it done.

Re: What tests are you/did you have done?

Re: What tests are you/did you have done?

I had the CF test before we TTC
I did first trimester screening for Downs and Trisomy 18 (the nuchal fold test).
Then we did AFP in the second trimester to screen for neural tube defects.
Thank god everything came back normal and our ultrasound looks good.

Amnio and CVS aren't usually offered to women under 35 unless you are high risk as far as I know.

Re: What tests are you/did you have done?

I was tested for Cystic Fibrosis which was fine, had the ultrascreen during the first trimester which though it came up normal was close to the abnormal numbers but in the end they said we shouldn't worry, and the AFP which was also fine. Tomorrow we are going for a fetal echocardiography because they have not been able to see a good view of the heart because of the way she is laying. So we are keeping our fingers crossed that everything is ok and that they can see it tomorrow.

Re: What tests are you/did you have done?

First I had all the initial blood work after my first appointment, which was a whole heck of a lot of blood!
Then I had the Cystic Fibrosis blood test.
I opted against the AFP test since I was one of the ones who got a false positive,with my first pregnancy and wasn't getting an amnio (due to the risks).My son was healthy.
Now I'll be going for my 20 week sonogram and next at about 24 weeks will be the hour glucose test.

Message edited 5/25/2005 8:20:14 AM.

Re: What tests are you/did you have done?

I just wanted to interject about tests. A lot of people will not terminate the pregnancy if there is a defect, but knowing about the defect could save the babies life or help the condition to be as minimal as possible.

it is very important to have the right specialist in L&D with you. and that time can prevent may problems and complications associated with some illnesses. If you do not know untl the birth, it takes time to get the right doctors and specialists to treat the baby right away.


Just food for thought.

Re: What tests are you/did you have done?

I had the CF test as part of my first blood work done (wasn't a choice) and I also did the Ultrascreen and AFP. I wanted to have as much knowledge about the health of my child as possible...good or bad. All tests came back great and the Dr. told me "even if you wanted an amnio..I'd talk you out of it."

Re: What tests are you/did you have done?

I had triple screen and that's it. I have to go for an extra sonogram becuse the baby MAY have a cyst on its gallbladder but they said thats nothing to really worry about.

If I were over 35 (soon), my doc recommends amnio.

Re: What tests are you/did you have done?

I had the "routine" blood work, which included the test for Cystic Fibrosis, Tay Sachs disease and Fragile X . Then I had the ultrascreen for down's syndrome and trisomy 18, then I had the AFP for spina bifida and other nueral tube defects and then the level 2 fetal anatomy.