Guest guest Posted July 14, 2007 Report Share Posted July 14, 2007 The short answer is, yes, if there is a known CHD7 mutation in the family, probably not otherwise. The only way CHARGE could be detected by amino is if they are looking for it. IF a family has a child with CHARGE, AND a CHD7 mutation has been identified, THEN it is possible to look for that same CH7 mutation in cells from the amniotic fluid. OK, what if there is a previous child with CHARGE but no mutation has been found? Then amino would not help. Ultrasound can look for some of the features of CHARGE (heart defects, cleft, kidney problems - there is a list of what to look for in the Diagnosis section in the Manual pdf files at the " About CHARGE " link at www.chargesyndrome.org). If CHARGE is suspected, a 3D ultrasound of the ear can be really helpful. OK, what if there is no history of CHARGE in the family, but it is suspected by ultrasound? Then sending DNA (from an amnio) to look for CHD7 mutations might make sense, but it's pretty expensive. What about that new test, CMA? CMA is chromosome microarray - it screens for lots of things all at once, and is sometimes helpful when there are multiple findings by ultrasound and routine chromosomes are normal. However, CMA will NOT pick up most CHARGE - it will only pick up big deletions (as opposed to point mutations) in the CHD7 gene - which is very rare as a cause of CHARGE. Meg Meg Hefner MS Genetic Counselor St. Louis MO > > Is CHARGE detectable with an amnio? Do they have to be specifically looking for it? > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2007 Report Share Posted July 14, 2007 Charge is not detectable via an amnio. it is a genetic mis-print or deformation of normaly Chromosome 7. A genetics test may be availabe but cost i have no idea. Speak to a genetic expert in your area and see what they have to say. > >Reply-To: CHARGE >To: CHARGE >Subject: Amniocentisis >Date: Sat, 14 Jul 2007 03:34:52 -0000 > >Is CHARGE detectable with an amnio? Do they have to be specifically >looking for it? > _________________________________________________________________ Tell MSN about your most memorable emails! http://www.emailbritain.co.uk/ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2007 Report Share Posted July 14, 2007 Do siblings always have the same mutation to be found even if they present differently? I think I just don't understand... Otherwise, the only other prenatal screening are things that might possibly be seen on ultrasound? Thanks, Janay Rasha's Mom > > > > Is CHARGE detectable with an amnio? Do they have to be specifically > looking for it? > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2007 Report Share Posted July 14, 2007 I specifically asked this question when we met with Trinity's genetics doc. She said yes it is detectable but they have to specifically look for it in that gene and it is nothing they typically do look for. It is likely it would cost a bit of money. My suggestion is that if you have someone in your family (your side or his) that has it then you should ask them to look for it. This information was told to us by the geneticist back in February 2007 so this might be new info as I noticed someone else said it was not detectable. Take Care, Mommy to Gracie 23 months and Trinity 6 1/2 months CHARGE msdanroots msdanroots@...> wrote: Is CHARGE detectable with an amnio? Do they have to be specifically looking for it? --------------------------------- Take the Internet to Go: Yahoo!Go puts the Internet in your pocket: mail, news, photos & more. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 14, 2007 Report Share Posted July 14, 2007 , you are right that it is not something that is typically looked for (I'm trying to change that by presenting information on CHARGE at genetic counselor meetings...) And it would be very expensiveif they are " starting from scratct. " IF a CHD7 mutation has been found in a child with CHARGE (the " typo " in the CHD7 manuscript has been found), it is NOT very expensive to look for it with prenatal diagnosis in another pregnancy. Because, yes, the mutation would always be the same within a family - so all they have to do is look for that one little " typo " - they don't have to proofread the entire gene again. Why would two kids in the same family have different features? Just like two siblings in a family are different - they have 30,000 other genes and (on average), siblings share only 50% of their genes. Even identical twins with CHARGE (or other genetic conditions) will not be totally the same - apparently even things like position in the womb make a difference in how things show up. The geneticists looking at CHARGE are trying to determine if any particular CHD7 mutations tend to lead to any particular features - they will present what they know so far at Conference. Meg Meg Hefner MS Genetic Counselor, St. Louis MO > Is CHARGE detectable with an amnio? Do they have to be specifically looking for it? > > > > > > > > --------------------------------- > Take the Internet to Go: Yahoo!Go puts the Internet in your pocket: mail, news, photos & more. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 15, 2007 Report Share Posted July 15, 2007 Thank You for the information. I thought this is what I remembered the geneticist at CHOP telling us.. but since it's been 9 mos I was not sure. --- Meg Hefner hefnerma@...> wrote: > The short answer is, yes, if there is a known CHD7 > mutation in the > family, probably not otherwise. > > The only way CHARGE could be detected by amino is if > they are looking > for it. IF a family has a child with CHARGE, AND a > CHD7 mutation has > been identified, THEN it is possible to look for > that same CH7 > mutation in cells from the amniotic fluid. > > OK, what if there is a previous child with CHARGE > but no mutation has > been found? Then amino would not help. Ultrasound > can look for some > of the features of CHARGE (heart defects, cleft, > kidney problems - > there is a list of what to look for in the Diagnosis > section in the > Manual pdf files at the " About CHARGE " link at > www.chargesyndrome.org). If CHARGE is suspected, a > 3D ultrasound of > the ear can be really helpful. > > OK, what if there is no history of CHARGE in the > family, but it is > suspected by ultrasound? Then sending DNA (from an > amnio) to look for > CHD7 mutations might make sense, but it's pretty > expensive. > > What about that new test, CMA? CMA is chromosome > microarray - it > screens for lots of things all at once, and is > sometimes helpful when > there are multiple findings by ultrasound and > routine chromosomes are > normal. However, CMA will NOT pick up most CHARGE - > it will only pick > up big deletions (as opposed to point mutations) in > the CHD7 gene - > which is very rare as a cause of CHARGE. > Meg > > Meg Hefner MS > Genetic Counselor > St. Louis MO > > > > > > Is CHARGE detectable with an amnio? Do they have > to be specifically > looking for it? > > > > > ________________________________________________________________________________\ ____Ready for the edge of your seat? Check out tonight's top picks on Yahoo! TV. http://tv.yahoo.com/ Quote Link to comment Share on other sites More sharing options...
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