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Negative blood work but defect with anatomy scan

tmandato1234tmandato1234 member
edited June 2015 in November 2015 Moms
Got my answers :) thank you everyone
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Re: Negative blood work but defect with anatomy scan

  • Ceridwen77Ceridwen77 member
    edited June 2015
    Google told me this:

    Amniocentesis/CVS is used to detect:

    Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome). The test can diagnose these conditions, but it can't measure their severity.

    Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, amniocentesis can usually tell you whether he has the disease.

    Neural tube defects such as spina bifida and anencephaly, which is done by measuring the level of a substance called alpha-fetoprotein (AFP) in the amniotic fluid.

    An amniocentesis/CVS cannot, however, detect other structural birth defects — such as heart malformations or a cleft lip or palate, for example. That said, many structural defects can be picked up on the second-trimester ultrasound that's routinely done for every woman having an amnio.

    My non-Google comment:
    I also want to add I find it quite awful that you didn't even know you were having a cvs. If that's actually true, I am pretty shocked. You should be more informed about the testing that you are undergoing so you can have a say/participate in the type of care that you are receiving. Ignorance is not going to prevent something bad from happening. Being educated is powerful.
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  • tmandato1234tmandato1234 member
    Ceridwen77 said:

    Google told me this:

    Amniocentesis/CVS is used to detect:

    Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome). The test can diagnose these conditions, but it can't measure their severity.

    Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, amniocentesis can usually tell you whether he has the disease.

    Neural tube defects such as spina bifida and anencephaly, which is done by measuring the level of a substance called alpha-fetoprotein (AFP) in the amniotic fluid.

    An amniocentesis/CVS cannot, however, detect other structural birth defects — such as heart malformations or a cleft lip or palate, for example. That said, many structural defects can be picked up on the second-trimester ultrasound that's routinely done for every woman having an amnio.

    My mom-Google comment:
    I also want to add I find it quite awful that you didn't even know you were having a cvs. If that's actually true, I am pretty shocked. You should be more informed about the testing that you are undergoing so you can have a say/participate in the type of care that you are receiving.

    Thank you but that wasn't the question. I am high risked due to a previous blood clot and had my first series of blood work at a quest diagnosis. Personally I don't mind because I tend to freak and over react. I'm just curious if all tests are negative can the anatomy scan come out with a positive defect ?
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  • modanz1modanz1 member
    I think you would know if you had a CVS test done.  It's not a blood test.  The blood test for Down Syndrome gives odds.  Mine for example was 1 in 10,000. So to answer your question, yes it's possible that even if  your results were in the normal range, your baby could have Down Syndrome.  It is highly unlikely  (see odds) but still possible.  As for the being a genetic carrier, if you are not a genetic carrier your baby will not have that disease (assuming you are asking about genetic diseases)  Both parents have to be carriers and then your baby has a 25% chance of having said disease.  
    YCSWU 



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  • Ceridwen77Ceridwen77 member
    edited June 2015
    tmandato1234 said:

    Ceridwen77 said:

    Google told me this:

    Amniocentesis/CVS is used to detect:

    Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome). The test can diagnose these conditions, but it can't measure their severity.

    Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, amniocentesis can usually tell you whether he has the disease.

    Neural tube defects such as spina bifida and anencephaly, which is done by measuring the level of a substance called alpha-fetoprotein (AFP) in the amniotic fluid.

    An amniocentesis/CVS cannot, however, detect other structural birth defects — such as heart malformations or a cleft lip or palate, for example. That said, many structural defects can be picked up on the second-trimester ultrasound that's routinely done for every woman having an amnio.

    My mom-Google comment:
    I also want to add I find it quite awful that you didn't even know you were having a cvs. If that's actually true, I am pretty shocked. You should be more informed about the testing that you are undergoing so you can have a say/participate in the type of care that you are receiving.

    Thank you but that wasn't the question. I am high risked due to a previous blood clot and had my first series of blood work at a quest diagnosis. Personally I don't mind because I tend to freak and over react. I'm just curious if all tests are negative can the anatomy scan come out with a positive defect ?
    You obviously didn't read my post in its entirety. I did answer (with a quick google search) what your CVS test can/cannot detect. Honestly that's the test that is most relevant because it is the only diagnostic testing you've received. You'd know this if you asked questions/participated in the care you're receiving.
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  • FavoritemandmsFavoritemandms member
    edited June 2015
    tmandato1234 said:
    Google told me this: Amniocentesis/CVS is used to detect: Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome). The test can diagnose these conditions, but it can't measure their severity. Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, amniocentesis can usually tell you whether he has the disease. Neural tube defects such as spina bifida and anencephaly, which is done by measuring the level of a substance called alpha-fetoprotein (AFP) in the amniotic fluid. An amniocentesis/CVS cannot, however, detect other structural birth defects — such as heart malformations or a cleft lip or palate, for example. That said, many structural defects can be picked up on the second-trimester ultrasound that's routinely done for every woman having an amnio. My mom-Google comment: I also want to add I find it quite awful that you didn't even know you were having a cvs. If that's actually true, I am pretty shocked. You should be more informed about the testing that you are undergoing so you can have a say/participate in the type of care that you are receiving.
    Thank you but that wasn't the question. I am high risked due to a previous blood clot and had my first series of blood work at a quest diagnosis. Personally I don't mind because I tend to freak and over react. I'm just curious if all tests are negative can the anatomy scan come out with a positive defect ?
    Actually, the google answer from Ceridwen is pretty thorough at answering your question. The tests you've had cannot test for every disease, nor do they look for structural defects which may appear on the anatomy scan, as explained in the last paragraph of the answer from google. 
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  • tmandato1234tmandato1234 member
    Peony1982 said:

    Gosh, @Ceridwen77, pay attention. ;) 


    ETA: OP - a CVS test is don't by sticking a needle through your stomach or a catheter through your cervix. Not a blood test. You'd know if it happened. Before getting snooty with someone trying to help, I'd get your facts straight
    I was told a cvs test is a blood test by my high risk doctor. That's how I also found out the sex of the baby. And again that's not the point of the post. Stop with your hormonal issues with people
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  • tmandato1234tmandato1234 member
    Ceridwen77 said:

    tmandato1234 said:

    Ceridwen77 said:

    Google told me this:

    Amniocentesis/CVS is used to detect:

    Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome). The test can diagnose these conditions, but it can't measure their severity.

    Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, amniocentesis can usually tell you whether he has the disease.

    Neural tube defects such as spina bifida and anencephaly, which is done by measuring the level of a substance called alpha-fetoprotein (AFP) in the amniotic fluid.

    An amniocentesis/CVS cannot, however, detect other structural birth defects — such as heart malformations or a cleft lip or palate, for example. That said, many structural defects can be picked up on the second-trimester ultrasound that's routinely done for every woman having an amnio.

    My mom-Google comment:
    I also want to add I find it quite awful that you didn't even know you were having a cvs. If that's actually true, I am pretty shocked. You should be more informed about the testing that you are undergoing so you can have a say/participate in the type of care that you are receiving.

    Thank you but that wasn't the question. I am high risked due to a previous blood clot and had my first series of blood work at a quest diagnosis. Personally I don't mind because I tend to freak and over react. I'm just curious if all tests are negative can the anatomy scan come out with a positive defect ?
    You obviously didn't read my post in its entirety. I did answer (with a quick google search) what your CVS test can/cannot detect. Honestly that's the test that is most relevant because it is the only diagnostic testing you've received. You'd know this if you asked questions/participated in the care you're receiving.
    I do t know if that is the only test I received as I told you before they don't tell me what tests iv been given.
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  • Ceridwen77Ceridwen77 member
    edited June 2015
    tmandato1234 said:

    Peony1982 said:

    Gosh, @Ceridwen77, pay attention. ;) 


    ETA: OP - a CVS test is don't by sticking a needle through your stomach or a catheter through your cervix. Not a blood test. You'd know if it happened. Before getting snooty with someone trying to help, I'd get your facts straight
    I was told a cvs test is a blood test by my high risk doctor. That's how I also found out the sex of the baby. And again that's not the point of the post. Stop with your hormonal issues with people
    And that's the type of attitude you take on if you don't want anyone to help. Even if you weren't completely rude to those who are obviously trying to help you, I wouldn't even know what to say next. You have no idea what testing you've even had. Call your doctor and ask them your question. :-h
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  • modanz1modanz1 member
    tmandato1234 said:
    Gosh, @Ceridwen77, pay attention. ;) 

    ETA: OP - a CVS test is don't by sticking a needle through your stomach or a catheter through your cervix. Not a blood test. You'd know if it happened. Before getting snooty with someone trying to help, I'd get your facts straight
    I was told a cvs test is a blood test by my high risk doctor. That's how I also found out the sex of the baby. And again that's not the point of the post. Stop with your hormonal issues with people
    If your doctor told you that a CVS test was blood work, he/she either misspoke or you should get a new doctor.  There are several names for the blood test you are referring to none of which sound anything like CVS. Mine was called Verifi and also told me the sex.  A simple google search will confirm that if you don't believe me.   Side bar, I don't think anyone has "hormonal issues" with people.  
    YCSWU 



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  • mizdarlingmizdarling member
    You didn't even know you had a CVS??  

    This is a highly invasive procedure that requires consent and a genetic consultation (in most states).  It also involves having them stick a needle through your abdomen or your cervix to get cells from the placenta.  
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  • tmandato1234tmandato1234 member
    So don't get mad at me because I listened to my doctor. As a doctor, I personally thought that he was giving me the correct answer. I guess I need to start speaking up and being a little less trusting. I apologize to all that I was rude to. I do appreciate your responses. And again I'm sorry
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  • tmandato1234tmandato1234 member
    mizdarling said:

    You didn't even know you had a CVS??  


    This is a highly invasive procedure that requires consent and a genetic consultation (in most states).  It also involves having them stick a needle through your abdomen or your cervix to get cells from the placenta.  
    I was told it was a blood test. I guess I was naïve and assumed it was true.
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  • Peony1982Peony1982 member
    edited June 2015
    Then SERIOUSLY get a new doc. Like, yesterday. Because that's straight up malpractice. Which is why I'm thinking it was misheard.
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  • modanz1modanz1 member
    tmandato1234 said:
    So don't get mad at me because I listened to my doctor. As a doctor, I personally thought that he was giving me the correct answer. I guess I need to start speaking up and being a little less trusting. I apologize to all that I was rude to. I do appreciate your responses. And again I'm sorry
    No one is mad at you.  And yes, you should speak up, listen and ask questions.  A patient/doctor relationship requires participation on both sides.  
    YCSWU 



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  • tmandato1234tmandato1234 member
    Peony1982 said:

    Then SERIOUSLY get a new doc. Like, yesterday. Because that's straight up malpractice. Which is why I'm thinking it was misheard.

    The high risk was just assigned by the obgyn. Do I ask my ob for a new doctor ? Again. I'm very sorry. I shouldn't of gotten a attitude with you.
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  • Peony1982Peony1982 member
    tmandato1234 said:
    Then SERIOUSLY get a new doc. Like, yesterday. Because that's straight up malpractice. Which is why I'm thinking it was misheard.
    The high risk was just assigned by the obgyn. Do I ask my ob for a new doctor ? Again. I'm very sorry. I shouldn't of gotten a attitude with you.

    I would say something to OB - just ask "I was told by high risk that I had CVS testing via bloodwork. That's doesn't sound right. Can you clarify what tests I have had/need to have?"
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  • tmandato1234tmandato1234 member
    modanz1 said:

    I think you would know if you had a CVS test done.  It's not a blood test.  The blood test for Down Syndrome gives odds.  Mine for example was 1 in 10,000. So to answer your question, yes it's possible that even if  your results were in the normal range, your baby could have Down Syndrome.  It is highly unlikely  (see odds) but still possible.  As for the being a genetic carrier, if you are not a genetic carrier your baby will not have that disease (assuming you are asking about genetic diseases)  Both parents have to be carriers and then your baby has a 25% chance of having said disease.  

    To be honest, I was never given any information on test results. I just assumed no news is good news. I don't even know what my odds are, if I even have any odds. Now I'm getting scared.
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  • modanz1modanz1 member
    How did you find out the sex if you werent given results?  Mine just came via letter in the mail to say I was in the normal range.  They should call if there were abnormal results. 
    YCSWU 



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  • tmandato1234tmandato1234 member
    modanz1 said:

    How did you find out the sex if you werent given results?  Mine just came via letter in the mail to say I was in the normal range.  They should call if there were abnormal results. 

    I went to my high risk and the nurse that was taking my vitals said, you had the cvs test done. Did they tell you the sex of the baby. And I said excuse me. After the 12 U.S. We went into the doctors office and that's when I told him that I heard they did the test. Can I really find out the sex and that's when he said it was a boy.
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  • Peony1982Peony1982 member
    There is def a miscommunication somewhere. No way a doc and. Nurse both misspoke CVS and mistook it for initial bloodwork.
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  • tmandato1234tmandato1234 member
    Peony1982 said:

    There is def a miscommunication somewhere. No way a doc and. Nurse both misspoke CVS and mistook it for initial bloodwork.

    Could there be another blood test that checks for down syndrome and tells you the sex, that also begins with a c. Maybe I even heard it wrong. But you would think that when I said that to the doctor he would of corrected me. Now I'm afraid that the sex of the baby is wrong as well.
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  • bworm80bworm80 member
    Any blood test that you had done to look for genetic problems and in which you get the results for sex would be a cell free fetal DNA testing. These tests usually just look for trisomy 13, trisomy 18, and trisomy 21 (Down's syndrome).

    CVS is an invasive procedure which can be the next step if your blood tests puts you at high risk.

    I would definitively confirm with your doc regarding which test you underwent. There's a major difference between the two.
    Pregnancy Ticker
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  • Ceridwen77Ceridwen77 member
    tmandato1234 said:

    Peony1982 said:

    There is def a miscommunication somewhere. No way a doc and. Nurse both misspoke CVS and mistook it for initial bloodwork.

    Could there be another blood test that checks for down syndrome and tells you the sex, that also begins with a c. Maybe I even heard it wrong. But you would think that when I said that to the doctor he would of corrected me. Now I'm afraid that the sex of the baby is wrong as well.
    Cell-free DNA test.
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  • urby87urby87 member
    edited June 2015
    You may have opted for other genetic testing at some point (I opted out, but I believe some of the tests are done via bloodwork).  As PPs have said, though, CVS is an invasive procedure and you would know if you had one done.  There must have been a communication breakdown somewhere along the lines, and I would second the advice to get in touch with your provider to clarify.
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  • tmandato1234tmandato1234 member
    urby87 said:

    You may have opted for other genetic testing at some point (I opted out, but I believe some of the tests are done via bloodwork).  As PPs have said, though, CVS is an invasive procedure and you would know if you had one done.  There must have been a communication breakdown somewhere along the lines, and I would second the advice to get in touch with your provider to clarify.

    Like I said. Iv had so much blood taken but never told what tests it was for. I personally never opted out.
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  • urby87urby87 member
    tmandato1234 said:
    You may have opted for other genetic testing at some point (I opted out, but I believe some of the tests are done via bloodwork).  As PPs have said, though, CVS is an invasive procedure and you would know if you had one done.  There must have been a communication breakdown somewhere along the lines, and I would second the advice to get in touch with your provider to clarify.
    Like I said. Iv had so much blood taken but never told what tests it was for. I personally never opted out.
    There is standard bloodwork that gets done at your first appointment, but genetic testing is in addition to that.  It's not standard care, and your provider would have specifically asked you whether you wanted it or not.  You would have had to have agreed to it to have it done. 
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  • gumby22cgumby22c member
    tmandato1234 said:
    You may have opted for other genetic testing at some point (I opted out, but I believe some of the tests are done via bloodwork).  As PPs have said, though, CVS is an invasive procedure and you would know if you had one done.  There must have been a communication breakdown somewhere along the lines, and I would second the advice to get in touch with your provider to clarify.
    Like I said. Iv had so much blood taken but never told what tests it was for. I personally never opted out.

    Start advocating for yourself and ask questions! There's nothing wrong with asking "what is this test for" or "why is this recommended". For real, sticking your head in the sand and just going with the flow never being informed of what doctors are doing or recommending is not ok.
    Baby Birthday Ticker Ticker
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  • ash413ash413 member
    Bottom line, there was obviously a major communication break down. You need to call you office tomorrow and clarify your testing and any abnormal results. For example, why were you refereed to a high risk OB?

    As others have said. It is better to have this conversation before the testing. I never let them stick before the doctor has gone over what they are testing for. Not to mention genetic testing is not necessarily covered by insurance, and I am sure you had to sign a release. I also had the verifi cell free DNA testing, and we had to fill out a totally different paper.
            
           image

    Married 5/23/2011
    BFP 6/16/2013 EDD 2/25/2014 MC 7/2/2013
    BFP 8/30/2014 EDD: 5/10/2015- MC 10/2/2014
    BFP 3/16/2015 EDD: 11/22/2015
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  • tmandato1234tmandato1234 member
    ash413 said:

    Bottom line, there was obviously a major communication break down. You need to call you office tomorrow and clarify your testing and any abnormal results. For example, why were you refereed to a high risk OB?

    As others have said. It is better to have this conversation before the testing. I never let them stick before the doctor has gone over what they are testing for. Not to mention genetic testing is not necessarily covered by insurance, and I am sure you had to sign a release. I also had the verifi cell free DNA testing, and we had to fill out a totally different paper.

    I was referred to the high risk because of my previous blood clot. I'm on blood thinners which he is the one that has to do the monitoring
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  • JLW0504JLW0504 member
    @tmandato1234 the question I'm about to ask you should not be taken in any negative light, but how old are you? In light of the lack of questioning to your doctor, I am assuming you're quite young. 

    I"m not judging you or anything, so please don't think that. I'm just trying to understand why you're not asking/afraid to ask questions. I talk to doctors all day as a part of my job and albeit, they don't always like being asked questions, but they have to answer them as a part of their job. 

    Being actively involved in your pregnancy will only benefit you. 

    Again, I'm not being rude, snarky, sassy, whathaveyou, just concerned for you really.
    photo 978af5ba-08bb-4481-86d8-3ab82265c5c3_zpsc80d6cf2.jpg div align="center">photo f1bdfba8-890a-4221-be22-61d4a9f99eee_zps89ebc57e.jpg
    Baby Birthday Ticker Ticker


     
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  • tmandato1234tmandato1234 member
    JLW0504 said:

    @tmandato1234 the question I'm about to ask you should not be taken in any negative light, but how old are you? In light of the lack of questioning to your doctor, I am assuming you're quite young. 


    I"m not judging you or anything, so please don't think that. I'm just trying to understand why you're not asking/afraid to ask questions. I talk to doctors all day as a part of my job and albeit, they don't always like being asked questions, but they have to answer them as a part of their job. 

    Being actively involved in your pregnancy will only benefit you. 

    Again, I'm not being rude, snarky, sassy, whathaveyou, just concerned for you really.
    I'm 24 and I didn't think I had to ask the wuestion. The doctors told me everything came out perfect so I just went with that. The comment that I made saying I didn't even know they did the test wasn't that big of an issue for me. I'm in and out of hospitals and doctors offices as it is due to my Health problems. I choose not to ask because it didn't concern to me that there was a issue to start drilling questions. I'm not afraid to ask questions, but by the time I sit in the chair and she takes the blood I just forget. I trust these doctors. They found my past ectopic pregnancy and gave me all the details of what I would go through when I did become pregnant. The only doctor that doesn't communicate is the high risk which I haven't seen in 6 weeks. I will see him July 6th. I choose not to get to into detail because I think about it to much and put myself deep in a depression, again another reason for my high risk apparently. Every ultrasound I had, which are frequent, they always say how strong the heart beat was and how healthy he was. My only question is what is the chances of the anatomy scan coming out positive for a defect. I do fear because my boyfriends sister was born without part of the right side of her heart.
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