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Anyone know if the amnio tests for more than the nuchal as a matter of routine? The last time around, my midwife said an amnio tests for the same three chromosomal abnormalities (Down's and trisomies 18 and 21) but won't test for anything else unless there's a family history. I'm older this time so I'm more on the fence about having an amnio (didn't with my other two). For me, if my nuchal comes back with good stats, the major reason to do an amnio would be if it tested for additional defects.
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So what does that consist of? Can you be more specific? Not trying to test you, but I'd really like to know what I'd be missing out on if I didn't get one. My midwife swore last time that it was only the same three as the nuchal unless there was a family history or other red flag. TIA!
[ Reply | Options ]np: the amnio is definite. the nuchal is just giving you your odds, no concrete info, more of a guess.
[ Reply | Options ]I understand that. What I want to know is if there are additional chromosomal tests that are done as a matter of course with the amnio (in addition to the three already mentioned). Do you know the answer to this?
[ Reply | Options ]it's more thorough: Nearly all chromosomal disorders, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome abnormalities (such as Turner syndrome and Klinefelter syndrome). Amniocentesis is more than 99 percent accurate in diagnosing these conditions. • 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, in most cases amniocentesis can usually tell you whether he has the disease • Neural tube defects such as spina bifida and anencephaly.
[ Reply | Options ]Sorry if I'm coming across as pedantic, but I still don't feel that people are getting my question. I understand that amnios have the ABILITY to test for more disorders. My question is if a person with no prior history or other indication for any of these disorders will also be tested for them as a matter of routine. Or if, as my midwife says, they will only be tested for the main three (down's and 18 and 21). When you say "increased risk," it makes me think that in a normal situation, the amnio would not be used for the other conditions mentioned.
[ Reply | Options ]they test for all chromosonal (which is more than nuchal). prior to the test, you meet with genetic counselor and they determine if you should be tested for any genetic (for example if you are Jewish you could be at risk for Jewish related diseases). it also tests for neural tube defects and spina bifida and anencephaly which nuchal doesn't test for. so to answer it simply, yes it tests automatically for much more than the nuchal
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those are certainly the most common, but you can have variosu chromosomal abnormalities that lead to, e.g., hermaphroditism or somethign close -- another example is turner's syndrome.and there are others that are more severe. amnio catches all of those. i am nto sure if nuchal does.
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