Whats the big deal in testing your unborn baby for down syndrome?

Question

lol This is probably a dumb question but Ive read a lot of posts on here and people are like "no way, Im not getting it tested for down syndrome" I was just wondering if it was harmful or something cause I would want to know. Im 7 weeks pregnant now. And I just figure since no one seems to want to do it there has to be something wrong with it??
Because I wont do it if its harmful

Answer 1

This answer is going to be long...



The first part, when you're about 10-13 weeks, is a "first trimester screen". This can either be a standalone screen for first trimester, or you can combine it with a screen in your second trimester for more accurate results.



The goal of screening (note: SCREENING. This is NOT diagnostic and will only let you know about increased risks, not yes/no.) is to detect pregnancies at higher risk for abnormalities, specifically Down Syndrome and Trisomy 18.



The first trimester screen usually starts with an ultrasound. The sonographer will take measurements of the baby, including nuchal translucency. That's the amount of fluid at the back of the baby's neck (and it's normal for the baby to have fluid). If it's above a cut off, the geneticist or a genetic counselor will come and talk to you about what it could mean and your options (i.e. offer diagnostic testing, such as a CVS [chorionic villi sampling] or an amniocentesis [amnio]). You would not have your blood drawn for the blood analysis because the screening has done it's job and identified increased risk.



If it's in the normal range, you'll have your blood drawn. The lab will look at amounts of chemicals in the blood that are produced by your pregnancy, your age, and the nuchal translucency score and give you a risk number.



The risk number will be a 1/something. The lab we used ranged from 1/5 to 1/10000. Usually when patients are given their results, they're told what their risk related to age alone was first.



The screen in the first trimester is 80% accurate. That means 8 out of every 10 babies that do have Down Syndrome (DS) or Trisomy 18 are put into a high risk category. The lab we used, that was 1/49 and higher (1/48, 1/47...). So, a >2% chance of having a child with DS was the cutoff point (for reference, the chance of having a child with abnormalities of some kind is 3-5%).



If you have the sequential screen, which has a blood draw in the second trimester (16-18 weeks), the lab will analyze that blood, and combine the numbers with scores from the first trimester screen, and give you a risk number. It's considered 90% accurate at this point because of combining the two screenings.



Of the women who receive "high risk" numbers, 95% of them do NOT have a child with a chromosomal problem. But they've been caught in the balancing act the lab has to play to set the levels where they'll detect the most pregnancies at risk for those disorders without detecting too many that aren't.



Many doctors will tell women that they "screened positive" for DS without explaining what that means. Screen Positive = Increased Risk (above a cutoff). Not diagnostic! And so many women think their baby has DS, and then when they have the amnio or CVS and it comes back normal, they're like, "the doctor was wrong!". It's possible it wasn't explained to them clearly before (or after) they had the screening, or at the time of giving results. Or that they forgot everything the doc said after the words "screen positive for down syndrome". Who knows?



Anyway, it is important to realize that it's only a risk. If you are not comfortable with the number you hear, you can have diagnostic testing. It's also paramount to think about what you'd do with the information before going in for the diagnostic testing, which most of the time can tell you yes/no (because it's looking at the baby's chromosomes directly).



Are you going to use it to make a decision about carrying/terminating the pregnancy? Or use it to prepare? Sometimes children with chromosomal abnormalities have heart issues or other issues, and this way, the parents can ensure that the right professionals are on hand at the time of birth to help their baby.



CVS is done around 11-13 weeks and samples the cells from the placenta. This works because the baby and the placenta had to grow from the same original egg and sperm, so theoretically, have the same chromosomes. Very rarely they don't (<1%, IIRC).



Amnio is done anytime after the 16th week (where I was, anyway). It's a long, thin needle (it's smaller than a blood donation needle) inserted into the amniotic fluid surrounding your baby to get a sample that will go to the lab. The needle would not be in for more than a minute (if you've a skilled OB/GYN to do it) and most women say it hurts less than they expected.



Biggest risk is miscarriage. The old risks quoted were about 1/200, but now they're better than that. At the hospital I'm at, it's about 1/300-1/500 for a miscarriage for a CVS (and that risk is higher because miscarriage is more common in the first trimester anyway), and 1/500-1/1000 for amniocentesis.



So...armed with all that... the choices are up to you. I think some people don't want to do it because they would not terminate the pregnancy, and that's totally fine. Some don't want to do it because they feel the fear of miscarriage is too great. Some do it because, for their own re

Answer 2

I think most of those people are referring to an amniocentesis. Yes, those can possibly be harmful, and they are scary for most women. A large needle is stuck through the mother's abdomen and into the uterus (guided by ultrasound in order to miss the baby). They draw out some amniotic fluid and test it for Downs and several other things. I will never have an amnio because I don't intend to abort no matter what the baby may have. It carries a risk of miscarriage--1 in 200 or so, I believe, but look it up--and this varies depending on what point during the pregnancy it's done. The risk is higher if it's done earlier, but if you are trying to decide whether to abort, obviously you are going to want it done earlier so you can make a decision. I am pro-life, so obviously this type of testing isn't for me. It's a personal decision and a lot of people get the test done for peace of mind or to prepare for any challenges they might be facing after the birth, so not EVERYONE does it to decide whether they want an abortion. But, personally, I'd rather keep my unborn baby as safe as possible and just not know about anything until the birth.

Answer 3

I had the quad screening done which checks for downs and other abnormalities. That is a simple blood test and doesn't cause any harm to you or the baby. I had it done only because I wanted to be prepared if something was wrong with my baby. It has nothing to do with terminating a pregnancy because I don't believe in that.



The test most don't want done is the amino test. That is poking a needle through the belly button to extract amniotic fluid to test. That is recommended for pregnant women 35 and older as well as if the doctor has a medical reason to do it. You can also find out the gender this way by the fluid draw and that is 100 percent accurate. The problem with this one is that you have a high chance of miscarriage and infection at the injection site. i definitely wouldn't recommend it.



24w pregnant with a precious baby girl!

Answer 4

It's not harmful, but I won't do it again, just because when I was preggers with my second I had the blood screening done, and it came out positive, 1 in 12 for down syndrome, I was only 23 at the time so my doctors were highly concerned and sent me for a level 2 Ultra sound and emergency amnio (where they stick a giant needle into you uterus and take some amniotic fluid). I waited 2 weeks to find out the amnio was inconclusive, and was told that we would see when the baby was born. Needless to say, my daughter was born 5 weeks early due to all the stress I was under and was completly helathy No Down Syndrome. I will never put myself or my family through the hell I went through in that pregnancy and refused to get tested this time because of the high rates of false positives. GOOD LUCK

Answer 5

There are always risks with invasive tests, as well they'll give you a percentage as of a chance like 5 percent chance, sometimes they say like 80 percent chance which stresses the mom out, just to turn around and have a healthy baby. Then woman sometimes contemplating other thins like if they find out their baby will have it they think would I be a bad mother to bring such an ill child that will suffer into the world. It causes a lto of anxiety when teh reality is even if they are 100 percent sure there is nothing they can do to help fix the problem. Just causes worry for no reason.

Answer 6

There is a high risk of false positives with the test to begin with and if you do test positive they want to do another test where they draw fluid out from around the baby. This actually can put you at risk for miscarriage. Its not a really high chance of miscarriage, but you have to decide if its worth it or not. I personally would not terminate my pregnancy if the child had Downs so for me there is no point in doing the test other then to know early, but then I would likely stress myself out and its just not worth it for me. My OB didnt sound too keen on the test either so I'm not going to bother

Answer 7

I didn't have the AFP or triple screen done because it has a very high false positive rate. I would never go on to do an amnio if I did have a positive so I don't see much point in starting down that road. On top of that what good would it do me to know in advance? I wouldn't change a thing about the pregnancy.

Answer 8

Well some people don't want to have an amnio done because there is a chance of having a miscarriage following one.



Unless you're at an advanced maternal age it's probable not necessary to get it done anyways.. A healthy young person has about a 1 in a million chance of having a downs baby, and my doctor actually told me he wouldn't reccommed it for me being that I'm 21 and no risk.

Answer 9

Ok, firstly they will not offer an amnio until AFTER they have completed tests such as a triple test, afp test and a nuchal translucency scan. Only then, if the results point to a much higher risk of down syndrome will they offer the amnio. Of course you can choose to refuse to take it.



I'm not sure why people make a big deal about it either. They say they won't abort, so why bother having the test. Well if you won't abort, the test results won't change your mind right? I would like to know, be prepared, read as much as I can before giving birth to a child with a birth defect.

Answer 10

because the way they do the test there is a chance of miscarriage.

i see it as no real point because if your baby has down syndrome there is nothing you can do about it. i would rather have a baby with down syndrome then no baby at all.



i didn't have to have this test because i am young and they could tell from my blood if my baby had it. so i got lucky

Answer 11

False positives are common. That can add extra stress on an already stressed woman.



I was told we were high risk for DS. I opted to have amnio because I wanted to be prepared if our little boy was going to be extra, extra special. There is a risk for amnio, and they wont offer it unless your high risk, but if you research the Dr. performing it beforehand then the risk is almost non existant. People like to tell scary stories about amnios though.

Answer 12

I didn't have the test for either of my children and my sister did for both of hers. She got a false positive on the second and doc actually asked if she wanted to terminate the pregnancy. To me I didn't do it because I didn't want anyone asking me that. I will accept the child no matter how he comes into this world. If you don't feel you can do that then the testing might be right for you, but be prepared that the test is NOT 100 percent accurate.

Answer 13

I only took the blood test for the down syndrome and my baby doesn't have it. I guess there is another test that is the one that should be worried about.

Answer 14

it does not harm you or the baby. it is a blood test at first and then with a sonogram measures the babys neck fluid. its just that it does not matter how the baby comes out. with my oldest i got the test done and the lady told me that my daughter was going to have it. she was wrong. so with two of my other children i opted out. this time i was on medications do to anxiety so i wanted to see if it harmed my baby. unfortunatly i did not know i was pregnant at that time i was taking the meds. the good thing is she is fine.

Answer 15

No its not harmful! its just a blood test! Some people dont want to know because they're going to love their babies either way and they dont feel the need to know. A baby is a precious gift whether he/she has down syndrome or not!

But there is absolutely no harm in it! =)

Answer 16

It's not harmful. Some people just don't want to be faced with that during their pregnancy. Personally, I'd rather know so I can be prepared.