Genetic counseling - I have questions

Kimbatron · April 2011

Hi, we are most likely going to do genetic counseling. I've been reading up on it online and I'm a little confused about what to expect. From what I've read, it sounds like they just talk about your risk of having certain issues and it's not clear to me whether they do any tests or if any tests will come out of this. What information will I get that's different from what I'll learn at my 20 week ultrasound? I'm just confused as to whether I'll learn if anything is wrong with this baby or just that my risk of having any baby with cleft palate is higher. My doctor just said that getting information from a genetic counselor is good because the more information you have, the better. and just in case it matters, my doctor said they would do it around my 20 week scan so that's another reason why I'm wondering if it's necessary/useful/will tell me anything.

If you did genetic counseling, can you tell me how it was for you? Did they do any testing besides the NT scan or the 20 week scan, such as a blood test? Did you find it useful?

Thanks!

DomerJenC · April 2011

There is a "quad screen" that they can do around 16w - it's a blood test. I'm not sure it covers more than what is covered at the NT scan?

uberbitter · April 2011

I had "genetic counseling" at my NT scan, and it was just an explanation of how they in particular assess the risk for chromosomal disorders. I had some questions related to spina bifida that they couldn't answer, so it was a waste of time (it was scheduled an hour before my scan and could have been explained to me in three minutes, tops). They even did the finger prick for the blood test (PAPP-A) in the ultrasound room.

Willosious · April 2011

I am 42. I was pregnant last year and had horrible blood work results. We had the geneitic counsinlg and they tried to get us to do additional testing based on our results. For me it was a horrible process hearing about all the bad things that could potentially be worn with our baby. We opted not too do any further testing other than NT scan and additional bloodwork (which was worse the second time). We ended up misscarrying at 6 months due to genetic issues.

We are pregnant again and due October 11th. We opted to not have any counseling and go straight to the testing which I am overjoyed to say came back to let us know that we have a perfectly genetically healthy baby girl.

You have to see if you are in a high risk catagory and what your blood work comes back with. Also you have to decide if the information will change your decision. I would have preferred to al least have been more prepared for the possiblitly that I would have miscarried. I dont want to worry or depress you, this is just my personel experience. I am sure that everything will be fine.

Kimbatron · April 2011

Thanks for the info! I'm going to ask about the bloodwork and try to get more specific information from my doctor at my next appointment.

Rolamarie · April 2011

Were you referred to a genetic counselor because of a suspected higher risk for some reason? If not, I don't see the point in it.

I had genetic counseling with my DD in regards to my sister's limb-reduction defect and the causes, and chances of it recurring for my pregnancy. They took a detailed family history.

Based on things that came up during our counseling session, they made notes to check for certain (not typically checked) things at the anatomy scan.

If you are at risk for something, or in a category that puts you at higher risk, I would recommend going through with the counseling. At the very least, it will help you have a realistic idea of the chances of certain things happening.

ETA: Based on our histories, they recommended no further tests other than a more detailed anatomy scan. But, they may decide after making full note of your risks and histories, that they recommend further testing.

Genetic counseling isn't in itself a test, it's used as an evaluation tool for the doctors to decide what testing may be needed, and to educate you about genetic issues that are possible.

StephK · April 2011

We spoke to a genetic counselor after our NT scan and in our experience they went over an explanation of the test, that it's a screening test, it is not diagnostic and therefore has a certain percentage of false negative and false positive readings. They talked about whether we'd be willing to do more invasive testing, like CVS or amniocentesis. They spent the most time on a exploration of my family history and my husband's family history, including anyone from siblings to parents to grandparents, aunts, uncles, cousins, everyone's children, etc. They were focused specifically on whether anyone in either of our families had a history of Downs, trisomy, CF, or other genetic disorders.

The only truly genetic testing we've had so far is to see if I am a carrier for the CF mutation and I'm not. They also interpreted the blood work portion of the 1st Trimester screening but that is not a truly genetic test.

I would assume they only do tests if there is a known risk of a genetic disorder in the family, like Tay-Sachs or CF or Sickle Cell. The other option they would discuss in detail, if you're interested, is the process of doing an amniocentesis. I've already established that the only way we would do further testing if they found anything of concern at the anatomy scan.

sugarmagzz · April 2011

I met with a genetic counselor about an hour before my screening, she just went over what the testing was and what the possible outcomes could mean. It was not a diagnosis but rather a screening and she discussed what our options would be if my results came back "screen positive", basically the next step would be amniocentesis for me because I was beyond the time frame for CVS at that point. I then had an ultrasound to measure nuchal translucency and nasal bone detection (two items that could show the possibility of Down's syndrome and other birth defects), both of which they confirmed for me that day were within normal range. I also had a vial of blood taken which was then sent off for testing which would determine my combined risk factor for Down's and Trisomy 13 and 18. I received a call a week later from the genetic counselor with the numbers (both of which were great thankfully) and was informed that no further testing was recommended. I know there are additional genetic counseling appointments for women who are at high-risk of genetic disorders so if that is your case you might be looking at something different, but that was my experience. HTH!

RobynK · April 2011

Not all genetic issues can be detected in your regular screens during pregnancy. My family has a history of some genetic disorders so we did counseling with our last pregnancy. We filled out the paperwork for family history and were able to discuss the odds of our children having one or more of the issues from both sides of the family (some weird eye issues is one example).

Kimbatron · April 2011

Rolamarie:

Were you referred to a genetic counselor because of a suspected higher risk for some reason? If not, I don't see the point in it.

I had genetic counseling with my DD in regards to my sister's limb-reduction defect and the causes, and chances of it recurring for my pregnancy. They took a detailed family history.

Based on things that came up during our counseling session, they made notes to check for certain (not typically checked) things at the anatomy scan.

If you are at risk for something, or in a category that puts you at higher risk, I would recommend going through with the counseling. At the very least, it will help you have a realistic idea of the chances of certain things happening.

ETA: Based on our histories, they recommended no further tests other than a more detailed anatomy scan. But, they may decide after making full note of your risks and histories, that they recommend further testing.

Genetic counseling isn't in itself a test, it's used as an evaluation tool for the doctors to decide what testing may be needed, and to educate you about genetic issues that are possible.

Regarding what we would be at risk for, my husband has a cleft lip and my father has a birth defect in his eyes... he was born without irises and is legally blind because of it. Neither of these are a game changer for me... I guess that's why I'm so hesitant. but my H and my doctor both think we should do it and I wasn't sure what would even happen at this appointment.

Pixiestx · April 2011

I turned 35 today so I had a genetic counseling appointment which went over family history and explained all the different screening options and genetic tests available. Typically there are a lot of options offered once you are advanced maternal age just as there would be if you had known genetic issues. We went 2 weeks before the NT scan which was good because we were then knowledgeable about tests, risks of cvs and amnio, and could think ahead about what path we would take depending on the screening results. A genetic counselor will give you lots of information but they are not going to recommend or push tests. They are there to answer questions and make sure you are able to make informed decisions, even if the decision is to do nothing.

VeilSdeGTO · April 2011

We had to have genetic counseling before our CVS. They went through the family history, and birth defects or other health factors on both sides of the family, and the odds for various genetic abnormalities. It was a 15 minute conversation.

I didn't feel it was very helpful since it was our second CVS and I already knew about all the odds, risks, etc. I hope you get the answers you are looking for during your genetic counseling session.

nic326 · April 2011

Kimbatron:

Hi, we are most likely going to do genetic counseling. I've been reading up on it online and I'm a little confused about what to expect. From what I've read, it sounds like they just talk about your risk of having certain issues and it's not clear to me whether they do any tests or if any tests will come out of this. What information will I get that's different from what I'll learn at my 20 week ultrasound? I'm just confused as to whether I'll learn if anything is wrong with this baby or just that my risk of having any baby with cleft palate is higher. My doctor just said that getting information from a genetic counselor is good because the more information you have, the better. and just in case it matters, my doctor said they would do it around my 20 week scan so that's another reason why I'm wondering if it's necessary/useful/will tell me anything.

If you did genetic counseling, can you tell me how it was for you? Did they do any testing besides the NT scan or the 20 week scan, such as a blood test? Did you find it useful?

Thanks!

Genetic counseling doesnt involve any testing. You simply meet with a counselor who goes over yours and DH family history of any known problems and health conditions. Then they go over with you the different kinds of problems that can occur in pregnancy (Trisomy 13, 18 and 21 ((Down's)) among other things. They go over the three kinds of additional testing you can have that can detect birth defects/problems - NT Scan, CVS and Amniocentesis. They also talk to you about what bloodwork can detect as far as problems go.

I have had the counseling session before but it was very informative and very helpful. I also wanted to know my increased chance (if any) of problems due to my age. Its typically done pretty early on, before you would choose to do the NT scan/CVS/Amnio if you chose to do so

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