Sono, Amnio & Genetic Counseling

Updated on April 30, 2010
L.A. asks from Rego Park, NY
25 answers

Dear Mamas:

I'm pregnant with my first, and will be 35 at delivery. I've opted for amnio. While I've read up on the proceedure, I'd like some insight into what to expect both from the sonogram, the amnio & the genetic counseling.

1. I wasn't keen on having genetic counseling. I don't want to know our statistical probability of having a child with all sorts of far flung ailments. I just want the amnio to alert me whether the one I am carrying now is affected. the nurses though tell me that the genetic counseling is legally required, is that true?

2. is there some way to mitigate the genetic counseling info? i.e. can I asked the doctor to put his tabulations in a sealed envelope. that way we can just put it away somewhere, and not have to have more to worry about unnecessarily?

3. why the sono? why several days b/f the amnio?

4. I hear you can have an injection of local anesthetic. I don't care for needles to begin with. Should I opt for one shot or just endure the amnio cold turkey?

5. Is hubby allowed in for "moral support" and hand holding?

6. how did you feel afterwards?

7. how soon do the results roll in?

Needless to say I am nervous. Thanks a bunch for all your insight.

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So What Happened?

I can't believe how worked up I was over what proved to be a very simple and straightforward proceedure. If anyone is in the Queens area and would like to me to recommend the doctor who performed my amnio, please drop me a note.

He was straightforward and thorough. He explained that the genetic survey was needed to alert him of things in our unique makeup which might present a problem for this as yet unborn, and allow him to perform additional screening, as necessary. he then looked for markers, and ultimately administered the amnio under ultrasound. The process was painless and hubby was in the room throughout.

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answers from Dallas on

I did an amino with both of my kids, as I was 38 and 39 when I delivered. The genetic counseling was only to review the results of the tests I thought. It was a while ago so maybe I don't remember. My husband was with me. The needle is big, unfortunately I don't remember if I had another shot before that one. It was uncomfortable but not terribly painful. I remember watching on a screen as they put the needle in. Maybe that is the sonogram, so they can see where the needle is going. The first time I did the amino I didn't have any issues afterwards. The second time I had a little pain afterwards. Sorry I don't remember more.

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answers from Atlanta on

Hi L.,

I had both my girls when I was over 30 and both (different) doctors told me I needed these tests and should have them. When I confronted them with the 50% error ratio on these tests they politely let me bypass them all. When the tests are as inaccurate as the "chances" you have anyway, why subject yourself and the baby to it. Stress is the worst thing any mama can go through with a baby....

Just my two cents.


2 moms found this helpful


answers from New York on

Don't worry so much about the genetic counseling. I've been through amnio at three different ages and the only one that was really scary was the one at 44. And even then, I told myself over 90% of ALL pregnancies in my age range had NO genetic defects, even the little ones. At 35, the risks are really not that high at all.

I don't think there is any way to mitigate the info. I think it sucks that they have to tell you that stuff right before you go in, but I do think it is required in many places.

Don't know why they're doing the sonogram several days before amnio. Mine were always right before. They just want to check to make sure that everything is okay so far. It can also give them information into possible genetic issues. They will also do a sonogram (minor) to determine where to put the needle.

I don't remember having any kind of anesthetic. I'm not fabulous with needles, but with an experienced person it's really not a big deal.

And absolutely! Hubby was right by my side for all three.

The first two were no big deal and felt fine. The third one, much later at 44, I was afraid that I was leaking amniotic fluid. Due to other complications with a previous pregnancy that was absolutely terrifying, but everything was okay.

They claim results will take two weeks, but they'll usually let you know sooner. They called me all three times. If you don't want to know the sex let them know ahead of time. They tend to assume you do want to know.

Relax! It's really not so bad. However, if you're REALLY nervous, then you might want to consider canceling it. Like I said, at 35 your risks really aren't that high.

Good luck!

1 mom found this helpful


answers from Seattle on

Of course it all depends on your provider but generally the genetic counseling should not be just ratting down a list of possibilities. Whether or not it is legally required may depend on your state laws.... so I am not sure.
Usually you will sit down with your provider and go over the results of your amnio and what they mean. Really unless you are a trained professional, you would not necessarily be able to decipher the results yourself.

Sometimes parents have genetic counseling before the amnio is performed to get a family history, assess probability for genetic conditions... There are many tests that can be performed from the amnio material, but unless there is an indication for specific genetic issues, they will only run the standard tests - otherwise it would be too expensive and time consuming, kinda like looking for a needle in a haystack.

The earlier sono is for dating, making sure your pregnancy is in the right range for the amnio and there are no complications contraindicating the amnio.

Whether or not your hubby is allowed depends on the policy of the facility. You should get the results within 2-4 weeks, depending if there are any additional, more time consuming tests that should be performed.

Good luck.



answers from Pittsburgh on

I delivered my son at 39, and declined amnio, etc. since the results are not conclusive, I figured why add stress? Are you sure about the genetic counseling being "required"? That sounds odd to me.



answers from New York on

The reason they recommend the amnio at 35 is that the risks of a complication from the amnio equal the risk of a genetic abnormality at that age, both are ~ 1 in 270 pregnancies. The older the mother gets the higher the genetic risk becomes and it exceeds the risk of problems from the amnio.

I was 35 when I was pregnant with my daughter. I opted for a "genetic ultrasound", it wasn't 3D, but they did a lot more measurements than the regular one. This test is used in conjunction with the Triple Screen and the combination is very accurate for detecting fetal abnormalities.

There is not a test I had where my husband could not be present if we wanted him to, so I'm sure yours can be there. I believe the results from amnio take awhile to come back, but I had my daughter in 2003 and didn't have that test, so I'm going by what I remember my dr saying at the time.

I think you probably have already had some "genetic counseling" and the discussion of the results of your amnio will not feel much different. Your Dr. should have explained the different testing options there are including CVS, triple screen (or quad or penta - whatever they are doing now), and amnio. He or she should have discussed the risks of the tests and the potential for false positives and/or false negatives. When the results of the amnio come in, the dr. will discuss those results in much the same way.

There is NO test where they can rule out every abnormality, they will just say that based on the results of the amnio, that they don't see any markers for X, Y, and Z diseases and that based on these results, your risk of having a baby with one of these diseases has decreased to 1 in xxxxxx. If they were to see a POTENTIAL concern, they would discuss that as well in much the same way, using numbers and statistics, also they would discuss your options for what you would want to do regarding your pregnancy. The doctors will not tell you what to do regarding different tests or treatments, but usually their biases show through.

Good luck! All of our "medical advances" have made pregnancy scary and it shouldn't be. Always trust your instincts and do what feels right to you.



answers from Houston on

I do ultrasound in an OB office - Genetic testing is ABSOLUTELY NOT LEGALLY REQUIRED!!! I would find another doctor immediately! It is suggested and recommended, but not required. I'm with you - have never had genetic testing. I would rather enjoy my pregnancies than worry about what "could be"

The sono is for dating. Your husband should be able to come into the room. I've never heard of them not being allowed in - whether it be hospital or doctor's office.

As for local, most doctors say one needle is enough. By the time the local takes effect, the amnio would already be over. I would say to forgo the local. Women do just fine without them.



answers from New York on

First of all, congrats on your pregnancy! I was pregnant last year at age 35 with baby #3. I had a triple screen test that came back questionable and I opted for an amnio.

My story does not have a happy ending.
The prcedure was very uncomfortable! I felt like that needle was invading my baby's world. I saw the sono while it was being done, so I know it wasn't near him, but was very unnatural.
My husband was with me the whole time and the doctor who performed the amnio was VERY experienced and I know people who he did an amnio for.
I had the amnio on a Thursady and I felt tired and a little crampy. Then Sunday came around and I felt OFF- I couldn't pinpoint it, just not myself. I thought it was becuae I did too much too soon. That night was awful- I couldn't sleep, I felt nauseous.
Monday morning came and I felt like I was in labor. I tried to relax in bed when my water broke. My husband and I went to the hospital where I delivered my angel baby. Plus , I had a 104.5 fever. Turns out I got an infection in my blood. I was in the hosp. for a week and had to come home and have a pic line (IV) in arm for 2 weeks to receive megadoses of antibiotics 2x a day.
What happened to me is VERY rare, however, it does happen. Everything was sterlized but a germ still came in.
Please ask yourself this- is the risk worth it? Would you love your baby no matter what? Then I wouldn't have any of those tests. They are not 100%accurate. Also, I know about 20 people who had "bad" tests results who had normal babies, and 2 people who had "normal" test results and had babies with downs.
Good luck with what ever decision you make- but remember they can't force you to do anything!



answers from Chicago on

Hi L..

I don't know about the "legality" issue, but the purpose of genetic counseling is for the physician staff to determine any additional congenital risks to your baby. The Amnio won't tell you absolutely everything about your baby's condition. So your Genetric Counselor will be asking you all about your family's and the Daddy's family history of diseases and genetic conditions (cancer, diabetes, heart disease, nuerological disabilities, etc.) Based upon your answers, they may recommend additional testing for you (i.e. additional blood draw for you, etc.) or for the baby (i.e. in-depth ultrasound exam of the baby's heart at a certain point in the pregnancy, etc.) I found the counseling very helpful -- it gave us very important information about a genetic issue that my children will need to be aware of when they are older and having their own children.

I don't know why you are having an ultrasound days prior to the Amnio. The Doctor's Nurse/Technician will be running an ultrasound while the Docotor performs the Amnio. Ask your Doctor.

At my hospital, my husband was allowed in with me for the procedure, which was my preference. I did not want to watch the ultrasound screen during the procedure, but he did. He held my hand and stroked my hair.

I didn't bother with the anesthetic. I was advised by several sources that the injection of the anesthetic was about the same feeling as the Amnio itself, so I didn't bother. I was so mentally "freaked-out" about the procedure that I can't remember feeling much of anything at all. It was not bad -- really. Afterward, I had cramps and felt uncomfortable for about an hour.

I can't remember how long it took for the results -- maybe 2 weeks? Ask your Genetic Counselor. But what a blessed day when the results come in!!!

Send me a message if you have any more questions. My very best wishes to you.

EDIT: Now that I've been thinking about it, I'll bet that the genetic counseling is *required* (legally?) prior to any Amnio to ENSURE that you understand what the Amnio will and will not tell you...and disclose the risks prior to you consenting to the procedure (in addition to all the other stuff I mentioned above.) They need to be sure you are fully informed before having the procedure, since the procedure is optional and comes with some risks.



answers from New York on

Hi L.!! First , congrats on your baby!! How exciting!! I believe you can refuse all testing. I don't believe anything is "legally" required. As long as you wouldn't terminate the pregnancy if their was anything "wrong" with the baby. with my babies, I did not have any testing done as I would not have terminated regardless. It is your body and your decision. As for your husband being with you, absolutely!!!
Best of luck to you!!



answers from New York on

Hi there,

I had an amnio done with my second child as they thought that he had down syndrome, and yes it was a scary incident. They scared the sh*t out of me at the genetic counseling but I had already made up my mind that I was going to have the baby anyway, with or without down syndrome. But from what I remember the genetic counseling was required just to prepare for any what ifs..... Your husband or even a friend can be there for the amnio and they usually do give some sort of anesthetic. From what I remember it just felt like pressure when they did insert the needle. It is a very long needle but don't go cold turkey on this one. You should have the results within a few days of having it done. But don't worry to much about what you're going to face. It could all be just for nothing. I will keep you in my thoughts & prayers & pray that nothing is wrong.



answers from New York on

Hi L.,
Just a few things for you to think about based on my experience and that of some friends also. Question to ask yourself - WHY are you having the amnio in the first place. Do they suspect there's a problem or is it "routine" by doctor's standards? If they were to tell you something was wrong with this baby would you abort - only you can answer that. In my best friend's case, her triple screen came back "abnormal" and doctor wanted her to have amnio. She asked if amnio would tell them anything that would HELP doctors to treat baby/mom differently during the pregnancy/delivery. The answer to that question was no and my friend was not interested in aborting the baby in ANY case, therefore, she declined taking the risk of the amnio. She did have a more detailed sonogram at some point later in the pregnancy to check for abnormalities - there were none. She gave birth to a beautiful healthy baby - this was 12 years ago. When I got pregnant a few years later, I opted NOT to have the tripple screen as I know the results aren't exact.

So the question remains - what would you do if you knew there was a problem with this baby? If your answer would be abort, then I guess I I would go ahead with the amnio. If you know you would never abort, then in my opinion, I couldn't justify the risk to a possibly healthy baby. Not to scare you, but I worked with someone years ago who lost a healthy baby after an amnio - heartbreaking and I think it is that 1 in 270? Not good enough odds for me. But you have to answer that yourself.

Please don't let the doctors scare you into having a test that you may not want or need to have. I'll say a prayer for you that you'll be guided to the right answer. Best of luck.



answers from New York on

I had a number of amnios and honestly it is not a big deal. It does not hurt, you just have to rest for the rest of the day to prevent the onset of labor. This is how it went for me: I went in, the radiologist and ultrasound tech came in, she did the ultrasound then he set up for the amnio, my doctor came in and stayed with me throughout the procedure and ended up doing it himself. The tech continued doing the ultrasound while the needle was inserted, this is done so that the needle doesn't hit the baby, fluid was drawn out, the needle came out and the procedure was over. My doctor did tell me I was having a boy both times. I did not watch the needle going in, my doctor was pointing out different things on the screen but once the needle was in I saw it on the screen and thought it was pretty interesting. After the procedure they had me rest for a bit, then my husband helped me get dressed and we went home. Yes your husband can stay in the room with you throughout the procedure. With my last son I had one every week or so due to the fact that I started to deliver him at 20 weeks and needed surgery to stitch it closed. It became so routine to me I would read while they did it, that is after I saw on the monitor him sucking his thumb. As for the genetic end, my doctor only told me everything was fine and did not elaborate on anything else, Yale wanted to go over it with me but my doctor told them we agreed he would deal with the results and discuss them with me. I was 36 and 39 years old when I had my last 2 kids. I hope this helps.



answers from New York on

I think people are getting confused. Genetic testing is optional, but once you decide to have the test, they are required to tell you the results (you've asked for them and now it's a libility if they don't tell you). After all, that is why you're going. Rather than doing the amnio why don't you just have the ultrasound and blood tests at 18 weeks. Then, if they come back with high results for issues, THEN decide to have the amnio if you need to.

You really need to discuss this with your OB/GYN and Maternal Fetal Specialist ASAP.



answers from New York on

I have had genetic counseling with all three of my pregnancies and amnio with 2. The main thing is getting your family tree and things in your history to help you choose the types of tests you need. I was lucky enough to have a wonderful genetic counselor and found talking with them to be more helpful than creating worries. Although I do understand your concern. I feel like if you have already decided to do an amnio you should have a professional give you a heads up about what potentially to expect. There are some tests we would never have thought of that I am glad she suggested for example cystic fibrosis screen. Which I did not know i was a carrier for and am glad I do know that now.
The sono before the amnio is to look for genetic abnormalities and is a good way to avoid an amnio.
I did not have the local injection for my amnios but they did swab with something (lidocaine?) it did not hurt! It just feels weird.
Your husband should absolutely be allowed in with you.
I was tired afterwards and had a little cramping and a few braxton hicks. Nothing to really worry about.
The full results came in about 2 weeks but the preliminary results were back after about 5 days. LONG WAIT for us.

I totally understand your feelings of nervousness. But the genetic counselor will actually be able to reassure you about the rarity if most of these problems. Our second baby did not have a good outcome and we went through a lot more testing with the third than we would have liked to. But he is due in a few days and as far as we know he is fine.
Good luck with whatever you choose. Just know they will tell you as much or as little as you want and they are there to help and soften the blow if needed.



answers from Indianapolis on

I'd check with your state attorney general to see if the Genetic Testing is legal - it may vary from state to state, and since I'm not familiar with NY law, I'd recommend contacting them or the American College of Obstetrics and Gynecology to see what you can learn there.

Should I have another child, I'll have to go through the work-up as well though I will ask not to find out the results. The science behind the diagnostics are fair at best, and they really don't provide accuracy in genetic abnormalities. My sister is currently going through it as she'll be 37 when she delivers her second child.

Try to manage your anxiety as best as possible - I do know how you feel - I was like that for 4 weeks waiting to learn if I had cancer, and the more time I spent on the internet trying to figure out what was going on, the worse my anxiety levels became. In both situations, you can't change what has occurred, so it's a matter of preparing yourself and acceptance.

Best wishes - hoping the procedures are easy and the results are a healthy baby.



answers from New York on

I had a "triple screen" (I think it was a quad screen, actually), and after discussing the results with my OB chose NOT to have the Amnio. I would recommend the screen and the counseling if you believe you would take action if there was a problem with your baby. However, I would not do the Amnio unless you had abnormal results.

A triple-screen, by the way, consists of blood work, a detailed ultrasound, and ... I can't remember now, but a second ultrasound, I think.

The Amnio does not tell you whether you will have a healthy baby, just whether certain genetic conditions are present (most notably Down's syndrome). As stated below, there is a fairly high risk with the Amnio, and when we reviewed the potential that the baby had Downs based on the triple-screen, we felt it wasn't worth taking that risk.



answers from Rochester on

You want to know if your baby will have a genetic abnormality but don't want the counseling to go with it.

I don't believe you can opt out of counseling - for the simple reason of: if you decide to terminate (which is the #1 reason for having the testing done) and you do so without 'all the factors' and later decide you were harmed by the decision, they don't want you coming back on them.

Counseling is not just statistics. It's about what happens when the baby is born.

amnio has its own risks too - and you might lose a 'normal' baby as a result. Statistically has happened, and %'s were not low enough for this first-time mama.

Hubby should be allowed. If he's not, find another hospital. You don't want that one.

Results can take days or weeks. It depends on the lab.

Good luck, and congratulations.



answers from New York on

Hi L.,
I hope that you don't mind me weighing in about the discussion below, but I'm a mama and a genetic counselor and thought that it might help. Some of the info. provided to you below is inaccurate.
I live in NY state. Although "genetic counseling" is required before certain testing is permitted, technically, your Ob/Gyn can provide "counseling". Ny state believes that it is important that people understand the benefits, limitations, and risks of genetic testing prior to having the test done. Why most OBs elect to involve a board certified genetic counselor is b/c we have greater expertise in the field of genetics and can allot the necessary time to speak with patients about their questions and concerns. During a standard pre-amniocentesis counseling session, we discuss the benefits, limitations, and risks of having the amniocentesis versus non-invasive prenatal testing options (such as ultrasound, nuchal translucency assessment, and maternal serum marker screening), and obtain detailed medical, pregnancy, and family histories. The goal of genetic counseling is not to cause anxiety (although we obviously do b/c we are discussing the possibility of abnormal pregnancy outcome), but to clarify someone's testing options, assist people with deciding whether or not they would like to have ANY testing (invasive or non-invasive), assist with interpretation of test results, identify non-routine tests which may be appropriate for a particular person/couple, and provide psycho-social support along the way. As many of the posters accurately stated below, there is no test that can gaurantee the birth of a genetically perfect baby (no one is!). However, an invasive test like an amniocentesis can routinely provide diagnostic information about the chromosome make-up of a pregnancy and measure amniotic fluid alpha-fetoprotein level (which tests for structural problems like open neural tube defects etc.). It is up to the individual/couple to weigh the risk of the invasive procedure (less than 1/500 risk for miscarriage at most experienced centers) against the benefits (reassurance, mental and/or medical preparation for the birth of a child with special needs, option for termination, etc.). Please feel free to e-mail me privately if you have additional questions. I wish you all the best.



answers from New York on

I had to go through this with my second because of a bad test result. It is very scary but thought I would write because all turned ok. I had to have the genetic cousel but honestly it was harmless and just took time to answer questions. The procedure didn't hurt at all. The have to do a sono with it to see where they inject the needle and not harm the baby. I felt fine after just nervous. It took 2 weeks to get results. I don't know if hubby is allowed in. I would not opt for the amino unless your doctor thinks you need it. But if you will sleep better with it then go ahead. All the best. Try to relax and enjoy your pregancey.



answers from New York on

I was 35 when I had my son. I was also told to have the amnio, to see if there would be problems, Downe Syndrome etc. The genetic counseling is really nothing. For me and my hubs we found it fascinating as we are different races and noted that the deases each race carried negated eachother as both parents had to be carriers for some of the more serious deseases/disabilities. I chose not to do the amino because whether my child was normal or was going to have challenges I wasn't going to abort, so there was no point. Some older moms I met did it just to find out the sex as you get actual proof of boy or girl, if you ask me that is not worth the risk. So basically it all comes down to if the dr thinks there is an issue and if you want to know what it is. If it is because of your age then that is a decision you and your husband need to make. don't feel forced into anything you are not comfortable with. I don't know if genetic counseling is legally required but more like a liability if they don't genetically counsel you and then there turns out to be a problem with the baby, basically covering every angle for malpractice.



answers from Detroit on

ok... well... I had kids at 39 and 41 so I have been there... I dont know if there is a legal requirement for genetic counseling.. but there is probably a moral or ethical requirement..

the hosptial policy probably says that they have to explain the risks of the procedure and the risks of not having the procedure..

the genetic counseling was required for both ofmy amnios..the first time in a group of 4 other couples.. short video.. little speach.. the next time individual counseling with a nice lady.. really not bad.

the amnio is done with the ultrasound machine on.. they have to see where the bby is to not poke him/her.

the amnio hurts but it is quick less than 1 minute. just be brave and it will be over.. I wasnt offer a local and it really wouldnt help as they are going deep and they can only numb the skin.

hubby was there.. he said it wasnt bad.. he wanted to go shopping afterward I wanted to lay down.. I was sore after the second amnio for a couple of days my uterus hurt. I took it easy. my resutls were back in 3 weeks and the second time 9 days..

the waiting is the hardest part..



answers from New York on

Dear L., Congratulations on your pregnancy! Although it is many years ago, I had the sonogram on the same day as the Amnio. I was told it was to locate exactly the baby's position before insertion. Although I do not remember anesthetic I also do not remember pain. My husband was working but I believe my mom came in with me. I know I had to be careful afterwards but I felt OK. It was about 3 weeks before the results arrived. If you say you will put the results in an envelop then why put yourself through this. I was told I had to have it but afterward my friend who is a nurse said what will you do if they say something is wrong, I said nothing so she said there is a lot of risk in this and you could harm or lose the baby. I am only passing on my experience. My son is perfectly healthy and now 28 years old. I wish you too a happy pregnancy and a healthy baby:-) Grandma Mary



answers from New York on

Hi L.-

We have been down part of the road you are on so I can add some basic insight. My husband's sister has Downs so we have gone for screening and genetic counseling with both our children (even though we were younger - 29 the first time and 31 the second time).

The genetic counseling was painless. We did a family tree with heritages like my side is primarily Spanish and Polish and hubby's is primarily German and British (I think, lol), who was still alive or not, if we knew causes of death and any illnesses in the family. We talked about what genetic anomolies could be carried by the different populations, but since we were both pretty much "mutts" (my term, not theirs) to begin with, there was very little concern about our children. Once we had our daughter and were preggers the second time, we noted if she had any disabilities - physical, mental or otherwise - and just updated the tree.

We went for the screening tests first. I had a protein test done. There was a sono of the baby early on for things like neck fold distance and such and another one a bit later to check for all the "parts".

Afterwards, we met again with the counselor, who helped us weigh all the information including our ages and such and helped calculate a risk factor. Using that information we could decide if we needed/wanted a more invasive procedure which would capture actual genetic material for analysis. Both times we did not.

We saw the experts at Maternal Fetal Medicine (Hackensack, NJ 07601; phone: ###-###-####) both times and they were great. I would highly recommend them. They were very open, had great information and discussions and truly cared for me, and my family as a whole.

Best of luck.



answers from New York on

I had my first 4 days after turning 35 and my second when I was 37. Didn't do amnio or genetic testing for either - just did the high level sonograms with a high-risk OB (in addition to my regular OB visits). The chance of complications from amnio were too stressful for me to handle, and when I decided to forgo the testing I was a much calmer mama.

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