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2nd Trimester
Unwanted Genetics Testing
Hi -- I've been off the boards for a while because I changed jobs, but something's come up with this pregnancy that I wanted to run by you all. Has anyone else had something like this happen?
My doctor had blood work done around week 7, which I thought was just the standard stuff. It turns out that they added a new test for hemoglobin abnormalities that I didn't know about. Before they only tested if you were from a high-risk racial or ethnic group but now they're testing everyone apparently.
I declined genetics counseling and genetics testing (quad screen, NT scan, etc) because it won't affect things for us and we didn't want the anxiety that they can cause.
So I was surprised when I got a call that they found an abnormality with my hemoglobin and wanted me to talk to a genetics counselor. I talked to a few people at my midwife's office and they all indicated that it's recessive, so it could possibly be some sort of an issue only if my husband is also a carrier.
My DD's bloodwork has come back as normal so I know that her hemoglobin is normal. So DH's must be normal.
They're pushing for testing anyway, a series of calls from the dr's office and maternal and fetal medicine. I explained we didn't want counseling or testing. I called and talked to a counselor and she said that my hemoglobin variant was very small, that it was almost normal, and that it's very rare for husband and wife to both have a variant. And that if we both did, the likelihood of there being a serious problem are remote. (And DD's fine anyway, so DH isn't even a carrier.)
We had DH's blood tested, figuring it would prove that he's normal and that we're fine, to stop the calls from them.
The results came back and now they want us to have more testing done -- $1,200's worth. And they want us to have counseling before we possibly have his blood tested again.
The message from my midwife didn't say that the results of the first test were bad and I'm not sure why she gave the price of the testing. It isn't covered by insurance or something?? I'm not sure what's going on. I left a message for her and am waiting to hear back.
Anyway, I'm mostly fuming that this testing was done at all. And that they keep trying to push us to see a counselor. We said that we weren't comfortable with testing and didn't want to. They said that if there is an abnormality with the baby's blood, all they'd do was more monitoring than usual, because they can't treat the baby's blood.
This all just seems ridiculous to me, and I'm upset that they aren't respecting our wishes. I'm really tempted to change practices. Sorry for the long message/rant!
This discussion has been closed.
Re: Unwanted Genetics Testing
I'm sorry. I didn't read all of the post because it made my head hurt.
BUT, from what I did read--- if they are doing the testing for everyone, then it's not like they went against your wishes. It would be against your wishes if they required you to speak with a genetic counselor. Refuse the counseling if you don't feel that it's necessary. (Which it is obvious that you don't)
I wouldn't switch practices right away because another practice may run the same test and want you to speak with a genetic counselor as well. I'd give a firm "NO" and leave it at that. If there are other incidences along the way, then I'd switch. Or, if you are feeling extra pressured after you've said no, then switch at your own discretion. If the switch were to happen, I'd verify with a new practice how they'd treat you.
Whoa. It sounds like your practice isn't respecting your boundaries. You've told them you don't want genetic testing and it sounds to me like they're pushing you.
Ask point blank if there is a risk to your life or to the baby's life if you don't have the testing done. If they say no, tell them you decline the treatment unless there is a chance something is wrong that can result in serious injury or death to you or the baby.
The only reason they would tell you the cost of the test is if insurance won't cover it, that's what I think anyway.
I'm sorry you're having this issue! Hope all is well!
Wow, that's a tough situation. My friend was sent to a genetics specialist 6 hours from her home based on an unplanned U/S. It caused a lot of heartache, stress, and of course, additional bills.
It's hard for me to say for sure, but I think I would continue to decline additional testing & counseling and change practices if necessary.
You need to get more information from them.
Sometimes the purpose of genetic counseling and testing is preparation. If your baby possibly has a disorder that will requirement treatment at birth, it will be helpful to you and your husband to be prepared. As well, as I would think, advantageous to your medical team that would be giving the treatment.
We also had to have further testing, it wouldn't have changed anything for us, but had our baby had anything advanced problems - I wouldn't have been able to deliver in my hospital. I live in a rural area and the hospital isn't equipped for babies needing immediate heart surgery etc. So my Doctor wanted me to find out so we could determine appropriate next steps.
When I think of genetics testing and counseling, I think of quad screening, NT, amnios, and the new tests to screen for things like Trisomy 13, 18, and 21, cystic fibrosis, etc. Maybe they didn't consider this hemoglobin test to be genetic testing? It sounds like they just found an abnormality with your blood that is probably attributed to a genetic mutation?
If that's the case, then I don't think you can blame them for doing the testing. I agree with PP who suggested asking whether this could pose a threat to you or your baby's life and whether your baby would need treatment immediately after birth if s/he is found to have it. If the answer is no, then I don't see any reason to go forward with the testing.
BFP1: DD1 born April 2011 at 34w1d via unplanned c/s due to HELLP, DVT 1 week PP
BFP3: DD2 born Feb 2013 at 38w4d via unplanned RCS due to uterine dehiscence
The lack of formatting is awful -- sorry everyone. I'm on a different computer with an old browser, maybe that's the problem. Thanks to anyone who tried to read it!
I've told my midwife, a nurse in the ob's office, and 2 people at MFM that I don't want counseling. They said they'd put my file aside and not call me. If I changed my mind, to call them. Still I'm getting calls about this. Even after we had DH's blood tested done to try to make it stop. Maybe the testing triggered another round of calls??
I'll see what my midwife says when she calls me back. If it was something that as a PP said was life threatening I could understand all the calls and pressure, but it's something that doesn't seem possible based on my DD's blood and isn't even treatable if this baby does somehow have my abnormality. They can't do anything about the baby's blood.
Just because your DD is normal does not mean it isn't potentially an issue.
I am a carrier for a rare disease that we just found otu about with this pregnancy, too. But there's only a 50% chance I would pass it on and a 50% chance that IF MH were a carrier that he would also pass it along.
So, genetically, if we were both carriers (MH did get tested and he is not), our children still only have a 25% chance of contracting the disease as they would have to receive recessive genes from both of us. And we could have gone on to have amnio if he was a carrier to determine if LO was in that 25%.
This was for a disease that would have caused death shortly after birth. What are the effects of this hemoglobin disease? Death? Stillbirth? Or the fact that LO's blood might not clot quite right so you'll have to be on top of it?
The counselor would be able to answer these questions and allow you to be prepared upon birth. If they did not call you, did not explain this to you, there would be people out there who would call malpractice after the fact. Maybe not you, but they're out there.
I'm not 100% up on my genetics, but hear me out. If your daughter had normal blood work I assume that means that she doesn't have any sort of hemoglobin disorder. But that doesn't mean your husband couldn't possibly be a carrier. If he has one dominant and one recessive gene, and gave the dominant gene to your daughter, your daughter would not show up with a hemoglobin disorder. And she would have to have a genetic blood test (not just a standard blood test) to determine if she is a carrier - which is what I assume they are now pressuring your husband to have done.
I understand your frustration on wanting no testing and them going against your wishes. But let me play devil's advocate here for a second. What if your child does have a blood disorder and something happens that requires a blood transfusion while he/she is in the hospital? Or what happens if it's a disorder that affects how well the blood carries oxygen and your baby has a deceleration in heart rate during labor?
Can they change your baby's blood? Of course not. But there may be conditions that they can be more prepared for if they know your baby has a blood condition of some sort. It's easy to say you don't want anything to change your pregnancy, but reality is some conditions DO change pregnancy. They change how you need to be treated and without diagnosing them, the well being of your child could be in jeopardy.
I'm sorry they tested you against your will. Right now, that's water under the bridge. (And personally, I don't necessarily see testing for certain blood disorders as standard practice as any sort of violation - but maybe that's just me.) But now that they have tested you, you have to decide what to do with this information. If you refuse testing, that's your choice. But I wouldn't be 100% confident that your husband doesn't have the disorder because your daughter has had standard blood work come back as normal.
Wow, sounds like a big problem with the practice. First they should not be ordering tests without explaining them to you. I am always amazed at how surprised some of my patients get when I explain the tests I offer before doing them. I feel the patient has the final say on what tests get done, the provider's job is to educate not dictate.
Second, prenatal diagnosis is a controversial thing and when patient states she is not interested, she is not interested. An offer for testing and/or counseling is appropriate, when this is declined, it is declined. They should simply document in your chart that these things were offered and you declined them.
There seems to be some issues with this practice. It might be reasonable to find a doctor that will respect your desires.
Here is a link to the information I give my patients regarding genetic testing including my personal story of what my wife and I did with our children.
Genetic Testing
Maybe if just one of your posts didn't direct people to your business website, you would come off as helpful and not just someone spamming the boards.
You have a right to refuse treatment. Tell them you don't want it, and ask them politely to stop asking you.
However, that being said, I would probably follow up, just to be on the safe side. Why not be prepared?
I can't even tell you how many tests were done with my blood and urine with DS without my knowledge or consent, and then I was billed $1500+ for. They tested my urine and blood for every known drug (and even some I didn't recognize) along with a multitude of other things that I had to Google when I received the itemized bill. None of which were "important", and none of which I wanted. When I asked them about it, they said that they were required by law to conduct these tests.
I didn't have insurance and ended up paying OOP for all of those useless and ridiculous tests.
If OP doesn't want the genetic counseling then yes, I agree with you, she should have the final say. The doctor should not be pressuring her to do one thing or another. Mention benefits to having further testing/genetic counseling, note the possible risks with not being prepared for an issue this hemoglobin abnormality may cause to avoid malpractice and move on.
OK -- talked to my midwife. She said that they sent DH's blood results to MFM and MFM said that they had wanted more testing done than was done originally. It sounds like the write-up wasn't totally clear to the lab or is different from what they usually do.
They're still trying to get to me to talk to them before we do testing, then after testing too. Which I don't understand. If it was positive, that would be one thing but I don't see why before and after testing.
So the new pushing is coming from MFM, not my ob office (they apparently thought that since DH had the blood test done, we were open to it. I explained we were just trying to get them to leave us alone).
She said that based on the blood work that had been done, my husband's hemoglobin is perfectly normal. She wasn't sure why MFM wanted more/different tests done.
I also ran my understanding of how it could be passed on works by her, which I'd gotten from talking to people at my ob office and talking to a counselor on the phone. She said that I was right -- the only way the baby could have an abnormality is if DH has an abnormality too.
She also confirmed that this is not life-threatening to myself or the baby, and that there's nothing that they would need to be aware of in the delivery room (thank you PP for suggesting these questions).
She said their office started testing everyone recently b/c they were afraid that people may not realize they actually have an ancestor that is from one of the high-risk groups and they could be sued in some instances, if people don't realize their baby could have a problem.
I was the first person that was upset about it. I guess other people haven't realized it was being done or don't care. She said she'd mention my concerns to other people in the practice.
She also said that they'd gotten a number of complaints about the MFM group that they're using and asked me to write up my experiences. She said that they're thinking about switching groups and that the documentation would help with their decision.
She said if I'm not interested, just say so and they'll just drop it. So I did. Hopefully they'll stop calling me now!
I don't know how to respond to your question, but:
Xx +Xx (big X dominant, little x recessive)
XX Xx Xx xx (possible outcomes)
50 % chance of child being a carrier, 25 % chance of child being affected.
Just because your daughter's blood work came back normal does not mean your husband is not a carrier.
I totally agree with pushing it if it were something that could have affected the baby at birth, but it wasn't and they were STILL pushing testing? Switch doctors ASAP! They just want your money.