I am 17 weeks pregnant now and have a question about optional down syndrome testing?

Question

At my 18 week checkup next Tues, the OB is going to talk to me about optional down syndrome, spina bifida and alpha protein that they test for. just curious, is it only one blood test they give us to check for all the symptoms and then let us know if it came positive or negative right? how many of you actually got the test done? since it's optional I ask cause if it is positive then the OB may run more tests and certainly do Amniocentises which is not good for the baby or in any case good for me.

Another question! I have some friends who take their little babies up to a year out every month to celebrate each month till they are 1 year. Today is my friend's little girls 6-month birthday. I can just write to my friend: Hope your daughter is doing well. Congrats on her 6 month birthday" That sound nice and all?

Answer 1

AFP testing very frequently reveals false positive results. Very frequently. Most of the positive results actually turn out to be false positives.

If you get a positive result, your doctor will refer you to a high risk doctor who will do a very fancy ultrasound. If the ultrasound looks normal, you will have the option to have amnio. The doc will weigh the benefits of amnio vs the risks, and you can make an informed decision from there.

Remember, AFP testing is optional. Research it on your own before you decide.

Answer 2

I was in a simliar position two weeks ago.

For Downs the problem is that the blood test will not give you a positive answer one way or another and 1 in 20 of people who take it will get a ' high risk' result when only about 1 in 400 ( if you are 30-35 years old) will actually have a Downs child. The only way of being sure is to have the Amnio which we were told has a 1% ( 1 in 100) chance of miscarriage. So there is a greatere chance of miscarrying a healthy baby than actually having one with downs.

For us it boiled down to how upset we would feel if we miscarried a healthy baby vs how strongly we felt about having a child with Downs ( which itself has huge degrees of variation in disability).
(My uncle had Downs, lead a full and active life and was a warm and loving human being. I think it is more the stigma for people wo don't know anyone with the condition and about people looking different that an understanding about living with the condition). We also considered how we would feel to terminate the pregnancy at 20+ weeks ( you basically have to go through labour and give birth to a still born baby) after having seen the baby moving around on the ultra sound. We also looked at some web sites about Downs and Spina Bifida and it made them seem less scary. We thought this is our child we have made and we will love it regardless.

Our understanding is that there is nothing to loose from the Spina Biffida blood test as if it indicates there is a risk you would then just have an untrasound scan ( non invasive) to check in detail. So no chance of miscarriage from this route.

At the end of the day it is a very personal decision but we thought about the worse case scenario of having the Amnio vs not. I would say avoid the blood test as it will tell you nothing certain and probably worry the hell out of you.

Answer 3

Usually monthly "birthdays" are inside family affairs, so yes, sending a card with such a note would be nice.

Unless you're near or over 30, or have a family history of DS or the other mentioned defects you should just opt out of the quad test.

about 60% of the time you get a false positive for spina bifida, and/or down syndrom. And they cant do anything until about 20 weeks as far as running another test. Every woman I have known, including my own mother, got the false positive and went through two weeks of hell waiting for the follow up tests. Generally its an ultrasound. BUt that depends on the doctors policy and hospital.

In any case, your insurance usually wont cover much if ANY of the surgical proceedures to correct what can be fixed if there is a true problem, so unless you have a way of coming across 100 g or better, and can convince the hospital to do the surgery without the money in your pocket, theres really nothing you can do.

Its a worthless test. I opted out of it and had an ultrasound instead to just visually check on Malachi's development. He was fine :)

Answer 4

As for the AFPT it is optional but it's a good idea to go ahead and have the test done. The reasons being that if the babay has anything (which pobbably isn't the case) wrong then the doc can be ready for any poblems that ay occur at or after delivery. For example have specialist for the baby be at the hospital instead of being on call that day. ANd if the baby had spina bifida then more than likely a c-section will be scheduled due to the high risk for infection with the baby.
The web site below will help answer alot iof not all of your questions.

As for the baby's six month birthday that sounds great!!

Good luck with your decision and your pregnancy!!

Answer 5

I opted out of the Quad Screen test for two reasons -- 1. I'm going to have the baby no matter what, so why bother getting all worked up over test results and 2. The test is not always accurate. If you get a positive result the next step will be to do an ultrasound. They usually do a screening ultrasound at 20 weeks anyway. If the ultrasound shows signs of downs THEN they'll do an amnio.

I wouldn't get the tests done, but that's just me.

Also, I think it's lovely that you're congratulating your friend on her daughter being 6 months! Its really nice when friends remember my daugther's birthday.

Answer 6

I had it done. I requested it. It is only one blood test that is used to check for all the abnormalities. However you have to understand the test is not 100% it can give a false positive. Most Doctors unless the proteins and such are extremely elevated will not do an amino. Regardless there is nothing wrong with doing an amino. But you have to ask yourself this seeing as it is an optional test "if it shows something is wrong with the baby will it change your mind about the pregnancy". When I gave birth to my second child at age 34 {he will be 5 months in a few days} I knew due to my "advanced" age there may be some problems with my baby and needed to know for me if there was. Luckily there were none and he is perfect. He was born a month early {although we knew this would happen and were prepared} and had his tests come back showing abnormalities I don't think it would have changed my mind. After all I waited 13 years between my children.

I have never heard of people doing what your friends do but how special they celebrate every month of the young child's life. Yes just writing to your friend is appropriate.

Good luck with your testing. Its nothing to worry about and most of all know that if your healthy odds are very good your child will be too.

Answer 7

they do a amnio to see about downs. but I didn't do it, for 1 thing it's dangerous & I didn't really want a long needle stuck in my belly next to my baby. & really would it change anything for you if the baby did have downs? I was 27-28 when I was pregnant w/ my 1st & even at that age my Dr. told me I was young enough that I had nothing to worry about anyway & that everything on the sonograms were normal anyway. put it this way when my sister was pregannt w/ her 3rd daughter Morgan they told her after doing the amnio that there was a big possiblity that Morgan would have downs syndrome. She will be 12 on nov. 30th & trust me she does not have downs, now if my sister would have been the kind of person that would have "gotten rid of it" then she would have been aborting a perfectly healthy child, & that my friend is why I am against those kinds of tests, if they told you the baby did have downs that would just upset you & cause you to have health problems during pregnancy it's not good for you to be upset or depressed during pregnancy.

and ya just say congrats about the 6 month b-day thing, I wouldn't go & celebrate w/ her or buy her a gift until her actual 1 year birthday. ya I told people that my now 5 year old, was like 2 months old on this day or whatever but I didn't celebrate it or want anyone to come over & have a party for her or anything

Answer 8

Well, because I was 35 when I was pregnant with my daughter, my OB advised me to have an amniocentesis. The risks of miscarriage are very small. I'm glad I did because I found out my daughter has Mosaic Downs Syndrome, which is a very rare form of DS. With MDS, not all the cells have the extra trisomy 21 chromosome, which means they have a better chance of not having major problems, like heart defects and learning disabilities. Had I not had the test, we would have never even suspected DS when my daughter was born. She doesn't have any physical characteristics of DS. A second test was done at birth, which confirmed the amnio results. However, having the amnio results helped my husband and I, as well as our families prepare for a baby with DS. She is now 16 months and has been enrolled in an early intervention program since 3 months old. She is developing wonderfully, both physically and mentally. I strongly believe in getting prenatal testing because it can help you prepare for having a child with special needs. The birth of a baby, especially your first, brings on new challenges and experiences. You don't need the added stress of a surprise at birth that you are not ready to handle. Sorry to ramble on. Best of luck to you for a healthy pregnancy, delivery and baby!!!!

I just wanted to add that I watched "Ask Dr. Drew" on Discovery Health Channel last night, which the subject was conception to birth. They mentioned that there is an earlier test for DS, which is an ultrasound at 10 weeks, which they look at the thickness of the skin on the back of the neck. When I was pregnant with my daughter, I had several ultrasounds to look for such characteristics. Another characteristic was the size of the upper leg bone - it is usually shorter in babies with DS. If you opt out of having an amnio, there are other tests that can be done. However, your insurance may not cover additional u/s just to look for these characteristics.

Answer 9

My baby girl is 5 months old and I had the test and really I don't know why. I have no family history and I wasn't at a age where age really can play a bigger factor like in downs.My insurance paid alot on the test but I still had to pay $191 out of pocket. I believe you should take all this in consideration and then decide for yourself. GOOD LUCK WITH EVERYTHING!!!!! As for the birthday I think it's fine to write or call but I also feel a birthday every month is a little much.Do you plan on having a birthday every month for your child?

Answer 10

just wait and see what the blood test says. Dr should only recommend amniocentises if she's really concerned and there are serious results leading to that conclusion. Take in mind that many times these tests show false positives for down syndrome, and an amnio can be threatening to baby's life. But i'm sure verything will go just fine.
The other question, that sounds good to me, simple and nice.