Tests during pregnancy - Amniocentesis- Pregnancy forum

Amniocentesis, or amnio, is a prenatal test in which a needle is inserted into a woman's abdomen to remove a portion of the amniotic fluid. This is usually done in conjunction with an ultrasound test so that the doctor can see where he is putting the needle to avoid harming the fetus. By performing biochemical tests and by examining the fetal cells in this amniotic fluid, it is possible to detect certain disabilities.

What can it detect?
One of the main uses of amniocentesis is to detect chromosomal abnormalities. With amniocentesis, it is possible to reconstruct the chariotype of an individual, i.e. map his or her chromosomes. This allows the detection of trisomies (extra chromosomes), monosomies (missing chromosomes), and other structural defects in the chromosomes.

The amniotic fluid can also be tested for levels of AFAFP, acetylcholinesterase (AChe), and hemoglobin F. It is possible to detect neural tube defects, including anencephaly, spina bifida, and meningomyelocele (though the use of amniocentesis to detect neural tube defects has been mostly superceded by a combination of the AFP test and high resolution detailed ultrasound).
It is also possible to detect about 70 metabolic disorders. The tests for metabolic disorders, however, are only done if family history warrants, and will not be done for women being referred for amnio due to age or results on the AFP test or Down's screen. If there is no history of genetic disease in the family, a genetic analysis will not be performed, only a chromosomal analysis.

What can an amnio not detect
Amniocentesis will not guarantee you a normal child. It cannot detect most non-chromosomal genetic defects, nor can it detect defects of body structure, such as harelip, cleft palate, congenital heart disease, hypospadias, pyloric stenosis, clubfoot or congenital hip dislocation. Defects caused by exposure to toxic substances will also not be detected by amnio.

What are the risks of amnio?
The main risk of amnio is that it may increase the chance of miscarriage. (1 in 270 in 1996) Different sources disagree on how much. The risk of miscarriage for pregnancies from 16 weeks on is 3% normally, and that amnio increases that risk by 0.5%. Blatt says that the most common figure given is 0.5%, but that some sources cite 1% to 1.5%, and Rothman gives a 3 in 1000 risk that an amnio will result in miscarriage.

After the test, you may experience cramping, fever and chills, vaginal bleeding or leaking amniotic fluid. Call the doctor if these are severe or persist.

Under what circumstances is amnio usually given?
Amniocentesis is recommended when the risk of a disability detectable by amnio is judged to be greater than the risk from amniocentesis. People for whom amniocentesis is likely to be recommended include:

women with an abnormal result on the AFP or Down's screen which is not explained by ultrasound
women with a previous child with a disability which amnio can detect
women who have had three or more miscarriages
carriers for conditions which can be detected,
carriers of sex-linked conditions such as hemophilia,
pregnancies in which one of the parents is known to have rearranged chromosomes,
women with ultrasound results showing a fetal anomaly compatible with a chromosomal abnormality,
advanced age. (chromosomal abnormalities are more common in older women.)

How early can an amnio be done?
Amniocentesis is most commonly done between the sixteenth and eighteenth week of pregnancy. In some places, it is experimentally offered as early as twelve weeks.

Late amniocentesis is often done in the third trimester to determine fetal lung maturity if early delivery is indicated.

After the amnio is done, it takes two to four weeks to get the results.

Comments: Tests during pregnancy - Amniocentesis

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Irenemow - 3 days ago.
Here you can read more about it: http://www.healthline.com/blogs/pregnancy_childbirth/2007/05/early-amniocentesis.html I know waiting is very stressful, I know because I am still waiting for my amnio results... Good luck!

Irenemow - 3 days ago.
If I were you I would wait for the normal amnio at 15 weeks. I read that early amnio has higher risk of mc.

mimom1 - 4 days ago.
I'm looking for advice . . .I'm 38, 12 weeks along. Last week had an NT scan with measurement of 5mm which puts us at high risk. Doctor offered CVS, early amnio or standard amnio. We opted for the early amnio (this week) but now I'm not sure what to do because of the m/c risk. I've found a fair amount of info. on CVS but very little on early amnio. I don't think CVS is the right choice for us as I have a fibroid (again!). Also, it seems that even with CVS there may be the need to do an amnio again later. The not knowing is so stressful that I'm not just not sure if we should wait to do the amnio later. Has anyone had an early amnio? Or maybe you've looked into this and can help me out?

Amy74 - 23 days ago.
Had my amnio today. It wasn't that bad. In fact I think I'm in more pain now...12 hours later..then when it was being done. (very tender and sore) I felt the slight prick of the needle then the pressure of the needle inside my belly. But it was so quick I didn't have time to allow myself to freak out. I feel very good about normal results..in my heart everything will be ok.

Mercer - 32 days ago.
Lauren - I think if you're feeling ok after a few days and not having spotting and cramping then you can resume normal activities. I personally waited a week before I would even go walking again and that was after I called my doctor to ask. I didn't really stop worrying about miscarriage until about 2 weeks after... I would just stay away from heavy lifting for a while or any strenuous exercise.

Mercer - 32 days ago.
Lauren - I think if you're feeling ok after a few days and not having spotting and cramping then you can resume normal activities. I personally waited a week before I would even go walking again and that was after I called my doctor to ask. I didn't really stop worrying about miscarriage until about 2 weeks after... I would just stay away from heavy lifting for a while or any strenuous exercise.

LAUREN820 - 32 days ago.
Hello. Could someone tell me how long after the amnio one can start to relax about the procedure-related miscarriage risk ?

misslynnz - 50 days ago.
I went to another specialist, they 'think' it should be a normal pregnancy because the odds of the baby having tetraploidy (4 chromosomes instead of normal 2) are so rare, only 15 cases reported. They do not recommend the baby's blood test through the umbilical cord, unnecessary risk to the baby. The blood results would only be helpful if it came back abnormal because if the blood results came back normal there could still be a chance of the tetraploidy be in his organs or skin tissue. They said by now if the baby has tetraploidy they should see some type of abnormality on the ultra sound, which it still looks OK. They said the BIG test will be in two weeks, the baby's heart echo. If that comes back OK and the growth comparison looks OK, it 'should' be a normal pregnancy. They know the placenta has the tetraploidy confirmed by CVS test, which can cause growth problems. They asked me if I wanted to continue with the pregnancy. I told them now or never! I'm 1/2 way there. (18 weeks) This is good news! At least now they say he might be normal.

zacharysmom - 50 days ago.
I just wanted to update everyone. I did attempt the amnio at 15 weeks and 5 days which was not successful. I refused second attempt due to m/s risk. Iam now 21 weeks and had level II genetic u/s which was completely normal. I am having feta echo on the 22nd but so far they got great pics of 4 chamber heart. I will just have to wait till the birth of my new son to know forsure. Good luck to all you ladies. Cindy

lisaandandrew - 51 days ago.
I go tomorrow (week 15) for a amnio .. I will let you know how it goes. Iam not nervous at all for the procedure, thankfully needles dont bother me. Iam much more nervous for the 2 week waiting game, for the results.

Aniaska - 63 days ago.
Hey ladies I want to congratulate all of you mommies to be this is a exciting time for all of us. I am rather new to the site I was wondering if you anyone of you could tell me if the amino is painful? I am to have one and am curious if it is? any info would be great. You can reply here or to my inbox. Thank you so much ladies.

Aniaska - 63 days ago.
Hey ladies I want to congratulate all of you mommies to be this is a exciting time for all of us. I am rather new to the site I was wondering if you anyone of you could tell me if the amino is painful? I am to have one and am curious if it is? any info would be great. You can reply here or to my inbox. Thank you so much ladies.

Aniaska - 63 days ago.
Hey ladies I want to congratulate all of you mommies to be this is a exciting time for all of us. I am rather new to the site I was wondering if you anyone of you could tell me if the amino is painful? I am to have one and am curious if it is? any info would be great. You can reply here or to my inbox. Thank you so much ladies.

cynthetamine - 67 days ago.
Anyone on here ever have an amniocentesis done? I'm 31w3d and have to have one done because i have polyhydramnios. Just wondering how bad it hurt? I am scared out of my mind about getting this done!!!!

sofawoman - 78 days ago.
I had an anmio done 8 days ago and I am thrilled that everything came back normal. I was really worried because not only did I have two miscarriages last year but I am almost 39 years old. When I had an amnio for my son back in 2005, I made myself a nervous wreck because I was scared to death. As it turned out it was really painless and nothing to worry about. This time I went in with the mind frame that it was going to be easy and it hurt so much I felt sick and had bad cramps for a good few hours! He said the position of the baby and placenta didn't give him much of a choice but to go in higher on the side of my abdomen. I am now thinking (after reading the info here) how strange it is that I am having the Level 2 in a few weeks but after the Amnio. I scheduled them at the same time but no one said a word that I should have had the Level 2 first. I am concerned of the time frame from having the amnio to the chances of a miscarriage. I thought I read somewhere that you can have a miscarriage up to two weeks after. Is this true???

ashleighr - 81 days ago.
well my finall report came in and everything was confermed she has normall Chromosomes in 18 21 and 13 also in girl one too i am soo happy my chance of having it was 1/41 so i knew that she had a high chance having it so i was soo scared and i didnt want to take this test i said no to having it done at first but then i just wanted to know soo bad so then i yes and i no complaction at all no cramping no bleeding no leaking fluid nothing but i hurt a little when the needle when in but i just wanted to share a little of my experance with this test cause i was scared and did not want to do it cause i didnt want to hurt my baby but it went well and no i know that she is going to be okay

deltabundle - 83 days ago.
My blood work results come back with 1/10 to have down - which I'm only 24 so I was told that was odd. I had the amnio and found out it came back positive. :( The only markers they found when doing the u/s was the marker on the heart and her legs were a little shorter then her arms. My doc was shocked at the postive result.

zacharysmom - 84 days ago.
Hi Maliah I know you from cafe mom..lol I was here searching for some information like you. I am 30 years old have two children one who was born with down syndrome. I have the NT scan which was within normal range, they also got nasal bone. Then with combined blood work and age etc. my results came back 1:105 for down syndrome. I had attempted amnio on the 9th and for some reason they doctor couldnt withdraw the fluid . It was very uncomfortable and nothing like my first amnio with my ds son. I am now scheduled a second attempt amnio next week on the 19th. I will be 16 weeks 6 days then. I am really debating a re-peat amnio and iam looking for anyone who has done one. I am scared of the risk of miscarriage and know i will keep the baby regardless. Iam awaiting call from doc to see when a level II u/s can be done and may opt for that first to rule out any markers. My first son who had down syndrome had nuchal thickness of 7.7mm, ecogenic bowels, small femur bones, and a heart defect so iam hoping although not 100% that the u/s can rule out these markers. I have been so scared and really dont know what to do now. I have until next thurs to decide to amnio or not? Me and my husband have both been tested and there was no genetic link to my son having trisomy 21. I had a healthy baby boy in 2005 who does not have down syndrom. I am not sure if my prior history played a role in the 1st trimester screening results , but i do know it was listed on the paper work that was sent to the lab that i had a previous trisomy pregnancy. Before testing my odds were 1:100 or 1% because of previous pregnancy. I just need some advise i dont know what i should do? thanks for listening sorry to long but hard to sum up history. Good luck to all you ladies.

Mercer - 86 days ago.
No problem ; ) It was this site that helped get me through all of it. I found so much support here and so many women who have been through the same things. If you need anything, just let me know!

Maliah - 86 days ago.
HI MERCER THANKS so much. well im sooooo glad ur story had a happy ending!!! that makes me feel really good!!!! well my results should be here soon... i hope.. i'll keep u guys updated.. and thanks again, makes me think positive. but it is a horrilbe feeling :( .....

Mercer - 87 days ago.
Hi Maliah, I know exactly what you're going through. I'm 27 so I'm a little bit older but I had pretty much the same story a few months ago. My quad screen came back positive with a 1/81 chance for downs syndrome. The level II looked perfect but they said the only way to know for sure was to have an amnio... so a couple of weeks later, that's what we did. My amnio results came back normal! It was SO scary to go through but I know this happens to a lot of women and you're not alone. I just remember feeling in my heart like my little girl was ok... and she was. You'll be in my thoughts and prayers as you wait for your results. I know it's hard to just wait but try to stay positive for yourself and your baby! Keep us posted on what happens. Wishing you the best.

Maliah - 87 days ago.
HEY guys im new. im just trying to look for some advice and comfort. I GOT A POSITIVE SCREEN FOR MY AFP TEST. SO I SAW A GC AND THEY SAID MY RISK WAS (1 IN 50) ..IM ONLY 22 YRS. OLD. SO I HAD A ULTRASOUND.. THEY SAID IT LOOKED GOOD,HEART,FEMUR BONES AND BRAIN, BUT THATS NOT 100%. SO I DID A AMNIO LAST TUESDAY, NOW IM JUST WAITING FOR THOSE RESULTS. IM SO SCARED.. HAS ANYONE ELSE BEEN THROUGH THIS TOO?? AND ARE ANY OF U THE SAME AGE AS ME??/ PLEASE NEED ADVICE

jenakers - 87 days ago.
As, Congrats that is nerve racking!

ashleighr - 88 days ago.
well i got my results from the fish test and it said normal so i am happy i am waiting for the full report that will be on nest monday but at least i can relax now that my baby has normal chromasomes in trisomy 18,13,and 21 yah :) good luck to everyone else i was soo scared this last week cause i love my little girl Lexi

Preg2S - 98 days ago.
At 17 weeks my quad screen came back positive 1:169 for downs. My doctor sent me for a Level 2 ultrasound. At the ultrasound they told me that I have a 2 vessel umbilical cord. I'm so scared. Next week I'll be 20 weeks and going for an amnio hopefully, to put my mind at ease. I'm really freaking out I can't sleep and have this horrible feeling in my stomache. Shannon