What disorders and defects can amniocentesis detect?

Does anyone have a list of disorders and defects that an amniocentesis can detect? Initially, I just thought it was Down Syndrome and Trisomy. However, I heard recently that it can detect a variety of chromosomal abnormalities.

I wasn't planning on getting an amnio because my results from my NT scan came back better than I expected. 1 in 2,800 for Down and 1 in 10,000 for Trisomy. But, now I am wondering if I should get an amnio to check for any other defects.

It can find pretty much anything.

However, it does carry big risks for you and the baby just to have it done. If the doc thinks everything is fine, I would avoid it. It's just too invasive for my taste

i would not get it..
it can cause lots of problems.

the risks include

Cramping

Bleeding

Infection

Leakage of amniotic fluid

Miscarriage

I really was very against it until I found out there are a whole host of other defects that there aren't any screens for. For an amnio do you have to specifiy the specific genetic disorder you are looking for, or does the test automatically look for all genrtic defects?

Quoting cutebubbles:“ I really was very against it until I found out there are a whole host of other defects that there aren't ... [snip!] ... to specifiy the specific genetic disorder you are looking for, or does the test automatically look for all genrtic defects?”

i think it scans for everything...

im not getting it because i know that anything can happen in pregnancy and ill love my baby regardless..

An amniocentesis can detect any type of chromosomal abnormality. However, it is very rare for chromosomal abnormalities not to be found through the afp or ultrasound and if they are they are relatively minor.

That being said, if you request an amnio for no medical reason, you will have to pay for it. Not to mention, you have no specific test you are looking for, let me tell you there are thousands of genetic tests, they are all very labor intensive to diagnose. You will be required to pay this all out of pocket, I would say minimally you would be looking at a few hundred thousand dollars.

If a genetic defect runs in your family the doc would probably automatically test for it. Sounds like you're a little scared somethng might have been passed to your baby

Quoting cutebubbles:“ I really was very against it until I found out there are a whole host of other defects that there aren't ... [snip!] ... to specifiy the specific genetic disorder you are looking for, or does the test automatically look for all genrtic defects?”

It screens for all the major ones but again.. it's very risky and usually not needed.

Do birth defects run in your family? Only a geneticist would be able to determine if y ou need one. They won't give you one just for asking (I hope)

Quoting cutebubbles:“ Does anyone have a list of disorders and defects that an amniocentesis can detect? Initially, I just ... [snip!] ... in 2,800 for Down and 1 in 10,000 for Trisomy. But, now I am wondering if I should get an amnio to check for any other defects.”

spinal bifida and other neurological defects I think. If you are going to get one, they have you sit down with a genetic counselor before getting one and they explain all the things it can detect and the whole procedure and the risks (though low) I had one because my blood tests came back high, basically saying there was a chance of my baby having some neurological defect, not downs though, but a small chance, so being that I am older I decided to go through with it. It was a little scary and it hurt a teeny bit, but I am glad I did it. you can also find out the sex that way too, the only 100 sure fire way to know the sex! I got to find out 2 weeks earlier !

No, I don't know of any genetic defects that run in my family. Though I have 34 first cousins and I've not met them all. I did sit with a genetics counselor and she advised me to get the second screen. I'm just a paranoid person and I keep thinking something is going to go wrong. I thought that the amnio would put my mind at ease. But, then the though of the risks of amnio....doesn't put my mind at ease.

Quoting cutebubbles:“ No, I don't know of any genetic defects that run in my family. Though I have 34 first cousins and I've ... [snip!] ... I thought that the amnio would put my mind at ease. But, then the though of the risks of amnio....doesn't put my mind at ease.”

I honestly wouldn't get it if i had no reason too

Quoting cutebubbles:“ No, I don't know of any genetic defects that run in my family. Though I have 34 first cousins and I've ... [snip!] ... I thought that the amnio would put my mind at ease. But, then the though of the risks of amnio....doesn't put my mind at ease.”

If nothing runs in the family, or the fathers family, your chances are very low. They can see so much with the scans nowadays that it's rare that they would miss something big.

Just put it to the back of your head and enjoy being pregnant. Worrying all the time isn't good for you or the baby!

I had it done and i am very happy that i did. As far as the risk re concerned, they are over rated in my opinion. It was very easy (but I should also mention that I have full trust in my Dr and very comfortable ) It gave me peace of mind, before the amnio I had all the other tests done as well, but nothing gives you a sure result as amnio does. It is a personal choice. My main reason was not down syndrome but 13 and 18 -which are fatal and the baby does not live beyond infancy. for me it was better be safe than sorry. I knew if he had either, i had to know. The results of my other screening tests came back great but there was always that little nagging feeling, as they are only 90 percent accurate max. (i am 40 so that is another reason, but it was solely for my peace of mind)
What ever you decide good luck to you, as i said it's a personal decision, ask your Dr about the pros and cons of it then decide.

Quoting cutebubbles:“ No, I don't know of any genetic defects that run in my family. Though I have 34 first cousins and I've ... [snip!] ... I thought that the amnio would put my mind at ease. But, then the though of the risks of amnio....doesn't put my mind at ease.”

Why did she suggest the second screen? There has to be some reason.
Common questions they ask, are things like does anyone in your family have unexplained hearing loss, white furlocks of hair, etc?

My test came back positive for Neural Tube Defect so they did a detailed ultrasound, Everything was fine but they did offer the Amnio which I denied because I was only 20 wks.