Can you guys give me any info about the options? I remember last time I was not impressed with the info provided by my ob's office and I want to do my own research beforehand this time. I also remember that I had to contact insurance myself to find out what is covered so I want to get a jump start on all of that.
Post by yourgirlblue on Aug 13, 2015 13:25:56 GMT -5
What kind of info are you looking for? To my knowledge the testing is taken through a blood sample to check for possible birth defects or genetic disorders (down syndrome, spina bifada). It is also elective at my OB's office. I chose to do it because I think it is important to plan and be prepared for what is ahead for both yours and your child's sake. As for our insurance, everyone's will be different. They should have that all figured out for you at your office.
I guess my question was more about the specific tests. I have heard of MaterniT21 but I know there are other options out there. I'm not sure what is commonly offered.
Yesterday the nurse told me about a few tests they can do through blood testing, as well as an additional U/S at 11 weeks to check for signs of Down Syndrome and a few other things, and I turned them down.
All of the males in my immediate family have haemophilia A, so I'm having either CVS at 11 weeks or an amniocentesis test at 16 weeks, possibly both. Both are invasive tests, but normal genetic testing, like MaterniT21 and other tests done by blood work of the mother, don't pick up on haemophilia. But that's all I know.
I guess my question was more about the specific tests. I have heard of MaterniT21 but I know there are other options out there. I'm not sure what is commonly offered.
I think that different doctor's offices offer different tests. I've heard of MaterniT21, too, but my OB talked to me about Panorama during my last pregnancy. I've heard people talk about Harmony testing, too.
It depends what you are testing for, and your age. I assume this is outside the ordinary parental blood workups for genetic syndromes that you or YH may be a carrier for (Fragile X, Tay-Sachs etc.)
First Trimester Screens: MaterniT21 / Panorama / Harmony -- blood test. These are not diagnostic tests, only predictive. They use fetal DNA in the mother's bloodstream to determine the probability of a chromosomal abnormality (Down Syndrome, Trisomy 13 / 18 etc). This cannot test for specific genetic syndromes. Nuchal Translucency -- an ultrasound that measures the thickness of the nuchal fold, and in conjunction with blood work gives a probability of chromosomal or other genetic defects. Again, cannot give probabilities for specific genetic syndromes. CVS -- invasive, via extraction of a sample of placenta either trans-abdominally or via cervix. This is a diagnostic test (i.e. it can confirm a chromosomal or genetic problem, not just the probability of one), and the genetic material retrieved can be used to test for chromosomal issues, as well as specific genetic syndromes that you may be a known carrier for. The CVS results cannot test for neural tube defects.
Second Trimester Screens: Anatomy Scan -- extended ultrasound used to look for physical defects in the baby Amniocentesis -- invasive, via extraction of a sample of amniotic fluid. This is a diagnostic test, and the genetic material can be used for everything a CVS can be used for PLUS neural tube defects. Maternal AFP -- blood test, used to check for probability of specific chromosomal (Down Syndrome, Trisomies etc.) & neural tube defects
Anecdotes: If you have a normal health history and are under the age of 35, in my practice only the nuchal translucency will be offered to you in first trimester. If the results indicate higher probabilities, other tests will be offered at that point. In my experience, my insurance covered the nuchal, and would cover other testing only once indicated by a high risk nuchal result.
If you are above the age of 35, in my practice the NT and the Harmony / MaterniT21 etc. will be offered (and both are covered by my insurance after that age). Again, if the results indicate a high probability of a problem, further testing will be offered.
Hope this is helpful. There are definitely more tests out there, and I'm no doctor, but these are the ordinary course ones...
Post by peanutmuse on Aug 13, 2015 15:58:14 GMT -5
To add to steveo's list. there are other names that I have heard for the first one she listed -- Mat21 is sometimes referred to by the company name Sequenom, and another test that does the same thing is Verifi. But Mat21/Sequenom, Panorama, Harmony, Verifi all do the same thing.
Thanks guys! This is the exact info I was looking for. I am 34 but my due date is about a week before my 35th bday. I'm thinking that the blood screenings like Mat21 will not be covered for me but I want to find out what my office offers and follow up with insurance to see what will be covered. Now I know the right questions to ask. Thanks!!!
Post by iamlindabelcher on Aug 13, 2015 17:46:23 GMT -5
On this note apparently the tests like Panarama (genetic blood test for aforementioned conditions) that also isolate the presence or absence of the Y chromosome to determine sex of the baby are now offered to everyone at my OB.
I had really hoped to do some tests before getting pregnant this time. DD was born healthy but our niece was born with CF. I'm certainly more worried this time, with DD I was all "we're young, nothing will be wrong"
@aest even assuming you or husband has the same CF mutation as the relative in your niece's family, you would both need to carry the recessive CF trait to pass it on to your child. The chance of being a CF carrier if you have no family history of it is low -- not sure what the odds are if a sibling carries it. But even if you are both carriers, the chances of your child having CF is only 25%.
Did you have the standard full panel of blood work when you were pregnant with your DD to check whether you were a carrier for anything? That would have identified most of the CF-relevant mutations -- if that came back clear, you're very unlikely to have a CF risk.
@aest even assuming you or husband has the same CF mutation as the relative in your niece's family, you would both need to carry the recessive CF trait to pass it on to your child. The chance of being a CF carrier if you have no family history of it is low -- not sure what the odds are if a sibling carries it. But even if you are both carriers, the chances of your child having CF is only 25%.
Did you have the standard full panel of blood work when you were pregnant with your DD to check whether you were a carrier for anything? That would have identified most of the CF-relevant mutations -- if that came back clear, you're very unlikely to have a CF risk.
This. I was found to be a carrier of the recessive CF gene when they did my standard blood work at my initial appointment. DH had to go to LabCorp for a blood draw to test and see if he was a carrier as well, and luckily he wasn't. It was something I never would have thought of testing for prior to being pregnant since I am unaware of any relatives with CF.
Did you have the standard full panel of blood work when you were pregnant with your DD to check whether you were a carrier for anything? That would have identified most of the CF-relevant mutations -- if that came back clear, you're very unlikely to have a CF risk.
We did not have them check to see if I was a CF carrier. My SIL "was not a carrier" based off the test, I guess her mutation isn't in the standard CF test, so they didn't know they even had a chance of a CF baby.
Post by wowcheezits on Aug 14, 2015 8:28:16 GMT -5
They have various tests such as Verify, MaterniT21, Harmony which all screen for chromosomal abnormalities. You can have them taken as early as 10 weeks. There's also a CVS testing, amniocentesis. It is a personal choice between your doctor whether or not you have them done. I am not sure if I'm missing any other tests.
It depends what you are testing for, and your age. I assume this is outside the ordinary parental blood workups for genetic syndromes that you or YH may be a carrier for (Fragile X, Tay-Sachs etc.)
First Trimester Screens: MaterniT21 / Panorama / Harmony -- blood test. These are not diagnostic tests, only predictive. They use fetal DNA in the mother's bloodstream to determine the probability of a chromosomal abnormality (Down Syndrome, Trisomy 13 / 18 etc). This cannot test for specific genetic syndromes. Nuchal Translucency -- an ultrasound that measures the thickness of the nuchal fold, and in conjunction with blood work gives a probability of chromosomal or other genetic defects. Again, cannot give probabilities for specific genetic syndromes. CVS -- invasive, via extraction of a sample of placenta either trans-abdominally or via cervix. This is a diagnostic test (i.e. it can confirm a chromosomal or genetic problem, not just the probability of one), and the genetic material retrieved can be used to test for chromosomal issues, as well as specific genetic syndromes that you may be a known carrier for. The CVS results cannot test for neural tube defects.
Second Trimester Screens: Anatomy Scan -- extended ultrasound used to look for physical defects in the baby Amniocentesis -- invasive, via extraction of a sample of amniotic fluid. This is a diagnostic test, and the genetic material can be used for everything a CVS can be used for PLUS neural tube defects. Maternal AFP -- blood test, used to check for probability of specific chromosomal (Down Syndrome, Trisomies etc.) & neural tube defects
Anecdotes: If you have a normal health history and are under the age of 35, in my practice only the nuchal translucency will be offered to you in first trimester. If the results indicate higher probabilities, other tests will be offered at that point. In my experience, my insurance covered the nuchal, and would cover other testing only once indicated by a high risk nuchal result.
If you are above the age of 35, in my practice the NT and the Harmony / MaterniT21 etc. will be offered (and both are covered by my insurance after that age). Again, if the results indicate a high probability of a problem, further testing will be offered.
Hope this is helpful. There are definitely more tests out there, and I'm no doctor, but these are the ordinary course ones...
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