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Brittany, I can understand your concern. The type of testing I talked about here would not be able to tell you about CVID. It might help if you were able to consult with a medical gentics specialist. They would be able to review your medical history and give you detailed information.
My fiance and I are considering trying to conceive, and I've started to read up on how to eat to prepare and like that. But I was wondering, do these tests (before the amino) show risks for blood disorders? I had a blood disorder growing up, I was born with it, and its genetic. I've always wanted to be a mother but terrified that my children would have my blood disorder and have to go through what I did. I already know a child of mine since I have (remission but they never consider it fully gone since it can come back fast) C.V.I.D would have a 1 in 4 chance of getting it. But I wanted if anyone was able to tell me if it could show blood disorder results, if so what were your if they were at risk? Thank you, you'll be canning my mind a bit.
Gracie, I'm sure this is hard for all of you. There are tests that will be able to help diagnosis the problem with the baby. An amniocentesis is when a thin needle is inserted into the uterus and a small amount of amniotic fluid is withdrawn and then tested for chromosomal abnormalities. There is also a blood test that can be done for specific chromosomal disorders. Some abnormalities aren't a result of chromosomal problems. A advanced level ultrasound can often help with the diagnosis of problems with the baby. I hope you, your son and daughter-in-law get the answers you need as well as some pictures of the baby.
My son and Daughter in law are expecting their first child. Just had their first ultrasound at 22 weeks and were told that the baby has low brain development and alot of water on the brain. Not much else was said and referred to a specialist next week. They weren't even given pics at the ultrasound to look at. Does anyone know what this means and if an amnio test will help diagnosis?
There are new blood tests that look at the DNA of the baby that is in the mothers blood. Currently these tests are not considered diagnostic by themselves. It is still recommended by the companies that manufacture the tests that an amniocentisis or CVS be done to confirm the results. I would recommend speaking with your health care provider about the tests before deciding about the 1st trimester screen.
I recently went through what I now realize should be called The Nuchal Translucency Scare. I have read countless postings of women who were given false positives and go through days and weeks of heartache and then feel they have to take the risk of a 1:300 chance of miscarriage with a CVS or amnio test to confirm or rule out. I have seen false positive rates of 5% (what the doctors will tell you) to 80% (closer to actual).
I HIGHLY recommend forgoing this test and taking the new Harmony test instead. It has been on the market for just 8 months now, and is non-invasive requiring only a blood test. IT IS 99.9% ACCURATE and blows away the NT test for this reason and makes the need for a CVS or amnio follow-up unnecessary.
Our clinic unfortunately seemed to be motivated more by the fact that they receive more money for the NT screening process than for Harmony. We had to work hard to get information from them but luckily was able to get this. SUPER relieved to go from 1:38 to 1:10,000 chance!
Gilly, yes, there are less invasive options available. The MaterniT21-plus test is a blood test that can be done, I believe, as early as 10 weeks. The test can diagnose Trisomy 21, Trisomy 18 and Trisomy 13. I don't know how far along you are, but another option is to wait until your anatomy ultrasound and if there are concerns at that time, then maybe you want to consider the MaterniT21-Plus test vs an amnio. I can't stress enough that if you are having concerns, talk to your doctor. If they don't have the information you are looking for, have them refer you to the ob genetic counselor or to a high risk doctor for a consult (I highly recommend Dr. Karl Rose, he is a fountain of knowledge and so compassionate).
I just took the tests as i was asked to without thinking about the stress, my blood came back with a 1 in ten chance and i do not know what to do about invasive tests that could make me micarrage a healthy baby do i have any other option
I am 34 as of 08-12 and almost 20 weeks pregnant. My anatomy scan showed a hot spot on the baby's heart and they said his femur is .01mm short compared to the size of his head. Everything else is normal or above average. I took a blood test called the Harmony test and am waiting on the results now. But I'm still going crazy and I can't get nothing done because this is all I think about. PLEASE HELP ME
What scientific studies have been done to determine if people with full T-21, Mosaic, and Translocation Down syndrome have OR do not have the ability to procreate; both male and female?
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