Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 That sounds completely logical. Your chances of losing the baby are higher than the chance of down syndrome, plus you wanted your child no matter what so why risk it?  So did your child have down syndrome or mosaic down syndrome? ________________________________ To: MosaicDS Sent: Thu, January 7, 2010 7:19:53 PM Subject: Re: amnio and mosaicism Rae - When I was pregnant, I was given a Triple screen test that came up with a 1% chance that I might have a child with Down Syndrome. I was told I should have an amnio to be sure but since we were going to have the baby no matter what and there was a 2% chance of losing the baby doing an amnio, so we decided not to do it. With those odds, I don't know many people who would risk the life of their child just to know something they could not change. Darlene > > > Does anyone know if mosaic down syndrome can be found in an amnio? Someone > told me the chance of finding it is around 1% but I question this data for > several reasons. 1) I know of 2 people personally who found out they were > having a child with mosaic down syndrome through an amnio. 2) Most of the > stories I hear are from individuals who didn't have amnio's and found out at > birth or later their child had mosaic down syndrome. 3) Only 2% or so of > individuals with down syndrome have mosaic down syndrome so it's not a > common syndrome. > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% > of amnio's if many people carrying children with mosaic down syndrome didn't > have an amnio? The only way to know would be if there are a high number of > individuals who had amnio's that didn't detect Mosaic down syndrome and I > haven't found individuals yet who had amnio's that detected no down syndrome > and then their child had mosaic down syndrome....though I know it's > possible, I doubt that only 1% can be found in an amnio. So does anyone > know if mosaic down syndrome can be found in an amnio and what the chances > are of finding it through this kind of testing? > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 I must say I'm very interested in the legislation you are working on. Let me know if I could be of any help? ________________________________ To: MosaicDS Sent: Thu, January 7, 2010 7:18:42 PM Subject: Re: amnio and mosaicism  Yes, it *can*, but the chance of it being misinterpretted as Trisomy 21 DS rather than mosaicism is about 87% with a 20 cell count, which is currently the standard (although I am working on changing that law to mandatory 500 cell counts for more accurate diagnosis). > > Does anyone know if mosaic down syndrome can be found in an amnio? Someone told me the chance of finding it is around 1% but I question this data for several reasons. 1) I know of 2 people personally who found out they were having a child with mosaic down syndrome through an amnio. 2) Most of the stories I hear are from individuals who didn't have amnio's and found out at birth or later their child had mosaic down syndrome.  3) Only 2% or so of individuals with down syndrome have mosaic down syndrome so it's not a common syndrome. > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% of amnio's if many people carrying children with mosaic down syndrome didn't have an amnio? The only way to know would be if there are a high number of individuals who had amnio's that didn't detect Mosaic down syndrome and I haven't found individuals yet who had amnio's that detected no down syndrome and then their child had mosaic down syndrome.... though I know it's possible, I doubt that only 1% can be found in an amnio.  So does anyone know if mosaic down syndrome can be found in an amnio and what the chances are of finding it through this kind of testing? > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 My amnio also came back negative. They told me that the cells that were tested were normal. Jeanne Re: amnio and mosaicism Yes, it *can*, but the chance of it being misinterpretted as Trisomy 21 DS rather than mosaicism is about 87% with a 20 cell count, which is currently the standard (although I am working on changing that law to mandatory 500 cell counts for more accurate diagnosis). > > Does anyone know if mosaic down syndrome can be found in an amnio? Someone told me the chance of finding it is around 1% but I question this data for several reasons. 1) I know of 2 people personally who found out they were having a child with mosaic down syndrome through an amnio. 2) Most of the stories I hear are from individuals who didn't have amnio's and found out at birth or later their child had mosaic down syndrome. 3) Only 2% or so of individuals with down syndrome have mosaic down syndrome so it's not a common syndrome. > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% of amnio's if many people carrying children with mosaic down syndrome didn't have an amnio? The only way to know would be if there are a high number of individuals who had amnio's that didn't detect Mosaic down syndrome and I haven't found individuals yet who had amnio's that detected no down syndrome and then their child had mosaic down syndrome.... though I know it's possible, I doubt that only 1% can be found in an amnio. So does anyone know if mosaic down syndrome can be found in an amnio and what the chances are of finding it through this kind of testing? > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 Very well said, my experience and thoughts were exactly the same when I was pregnant and since I had miscarried a couple months before there was no way I was doing an amino and being 40 at the time was my last chance, supprised I was even prego. When he was born they told me he was MDS but weren't sure. Test 20 cells came back positive for DS, the genetist wanted to test further but I reclined because my baby is who he is reguardless of the darn cell thing. > > > > > > > Does anyone know if mosaic down syndrome can be found in an amnio? Someone > > told me the chance of finding it is around 1% but I question this data for > > several reasons. 1) I know of 2 people personally who found out they were > > having a child with mosaic down syndrome through an amnio. 2) Most of the > > stories I hear are from individuals who didn't have amnio's and found out at > > birth or later their child had mosaic down syndrome. 3) Only 2% or so of > > individuals with down syndrome have mosaic down syndrome so it's not a > > common syndrome. > > > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% > > of amnio's if many people carrying children with mosaic down syndrome didn't > > have an amnio? The only way to know would be if there are a high number of > > individuals who had amnio's that didn't detect Mosaic down syndrome and I > > haven't found individuals yet who had amnio's that detected no down syndrome > > and then their child had mosaic down syndrome....though I know it's > > possible, I doubt that only 1% can be found in an amnio. So does anyone > > know if mosaic down syndrome can be found in an amnio and what the chances > > are of finding it through this kind of testing? > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 Rae - Because of the high triple screen, when was born the first question out of my mouth after they told me I had a girl was " Does she have Down Syndrome? " They told me no - I said " Are you sure? " They told me me " We would know. " Guess what - They were wrong - she has MDS - Did not find out until she was almost 6 months old and only had her tested because at her 4 month Dr. visit, we saw a Dr. in the practice not our usual doctor who asked me if her father was Asian. I said no, French. She said was a little floppy and had Asian eyes which could be a sign of DS - we should wait and see if anything came up. Being a type A - I immediately called MY ped and said I wanted her tested. Took 2 months for the results (also during the time my daughter's ped was dx with breast cancer) so I was called and given the results by some kids I did not know OVER the PHONE! Darlene > > > That sounds completely logical. Your chances of losing the baby are higher > than the chance of down syndrome, plus you wanted your child no matter what > so why risk it? So did your child have down syndrome or mosaic down > syndrome? > > ________________________________ > From: Darlene Benoit <Darleneand@...<Darleneand%40gmail.com> > > > To: MosaicDS <MosaicDS%40yahoogroups.com> > Sent: Thu, January 7, 2010 7:19:53 PM > Subject: Re: amnio and mosaicism > > Rae - > > When I was pregnant, I was given a Triple screen test that came up with a > 1% > chance that I might have a child with Down Syndrome. I was told I should > have an amnio to be sure but since we were going to have the baby no matter > what and there was a 2% chance of losing the baby doing an amnio, so we > decided not to do it. With those odds, I don't know many people who would > risk the life of their child just to know something they could not change. > > Darlene > > > On Thu, Jan 7, 2010 at 7:57 PM, Rae <rae_12377@...<rae_12377%40yahoo.com>> > wrote: > > > > > > > Does anyone know if mosaic down syndrome can be found in an amnio? > Someone > > told me the chance of finding it is around 1% but I question this data > for > > several reasons. 1) I know of 2 people personally who found out they > were > > having a child with mosaic down syndrome through an amnio. 2) Most of the > > stories I hear are from individuals who didn't have amnio's and found out > at > > birth or later their child had mosaic down syndrome. 3) Only 2% or so of > > individuals with down syndrome have mosaic down syndrome so it's not a > > common syndrome. > > > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% > > of amnio's if many people carrying children with mosaic down syndrome > didn't > > have an amnio? The only way to know would be if there are a high number > of > > individuals who had amnio's that didn't detect Mosaic down syndrome and I > > haven't found individuals yet who had amnio's that detected no down > syndrome > > and then their child had mosaic down syndrome....though I know it's > > possible, I doubt that only 1% can be found in an amnio. So does anyone > > know if mosaic down syndrome can be found in an amnio and what the > chances > > are of finding it through this kind of testing? > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 We found out through the amnio. Christie (mom to Sedona 2 yrs, and Avery 5 mos, mds) amnio and mosaicism Does anyone know if mosaic down syndrome can be found in an amnio? Someone told me the chance of finding it is around 1% but I question this data for several reasons. 1) I know of 2 people personally who found out they were having a child with mosaic down syndrome through an amnio. 2) Most of the stories I hear are from individuals who didn't have amnio's and found out at birth or later their child had mosaic down syndrome. 3) Only 2% or so of individuals with down syndrome have mosaic down syndrome so it's not a common syndrome. Basically, how can we know Mosaic down syndrome cannot be found in but 1% of amnio's if many people carrying children with mosaic down syndrome didn't have an amnio? The only way to know would be if there are a high number of individuals who had amnio's that didn't detect Mosaic down syndrome and I haven't found individuals yet who had amnio's that detected no down syndrome and then their child had mosaic down syndrome....though I know it's possible, I doubt that only 1% can be found in an amnio. So does anyone know if mosaic down syndrome can be found in an amnio and what the chances are of finding it through this kind of testing? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 MDS would definitely be found in an amneo. A lot of women routinely have amneos over the age of 35 to see if there are any genetic abnormalities. I was advised to have an amneo after my triple screen but did not because of the risk to the baby. I like Darlene knew it would not make a difference what the amneo showed. was not diagnosed until he was 20 mos old. But if I had the amneo I would have known for sure but I still would have chosen not to have the amneo. Ross mom to 12, 8, and Kirk 6 Sent from my Verizon Wireless BlackBerry Re: amnio and mosaicism > > Rae - > > When I was pregnant, I was given a Triple screen test that came up with a > 1% > chance that I might have a child with Down Syndrome. I was told I should > have an amnio to be sure but since we were going to have the baby no matter > what and there was a 2% chance of losing the baby doing an amnio, so we > decided not to do it. With those odds, I don't know many people who would > risk the life of their child just to know something they could not change. > > Darlene > > > On Thu, Jan 7, 2010 at 7:57 PM, Rae <rae_12377@...<rae_12377%40yahoo.com>> > wrote: > > > > > > > Does anyone know if mosaic down syndrome can be found in an amnio? > Someone > > told me the chance of finding it is around 1% but I question this data > for > > several reasons. 1) I know of 2 people personally who found out they > were > > having a child with mosaic down syndrome through an amnio. 2) Most of the > > stories I hear are from individuals who didn't have amnio's and found out > at > > birth or later their child had mosaic down syndrome. 3) Only 2% or so of > > individuals with down syndrome have mosaic down syndrome so it's not a > > common syndrome. > > > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% > > of amnio's if many people carrying children with mosaic down syndrome > didn't > > have an amnio? The only way to know would be if there are a high number > of > > individuals who had amnio's that didn't detect Mosaic down syndrome and I > > haven't found individuals yet who had amnio's that detected no down > syndrome > > and then their child had mosaic down syndrome....though I know it's > > possible, I doubt that only 1% can be found in an amnio. So does anyone > > know if mosaic down syndrome can be found in an amnio and what the > chances > > are of finding it through this kind of testing? > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2010 Report Share Posted January 8, 2010 not necessarily. Would be more probable to show DS rather than MDS. > > > > > > > > > > > Does anyone know if mosaic down syndrome can be found in an amnio? > > Someone > > > told me the chance of finding it is around 1% but I question this data > > for > > > several reasons. 1) I know of 2 people personally who found out they > > were > > > having a child with mosaic down syndrome through an amnio. 2) Most of the > > > stories I hear are from individuals who didn't have amnio's and found out > > at > > > birth or later their child had mosaic down syndrome. 3) Only 2% or so of > > > individuals with down syndrome have mosaic down syndrome so it's not a > > > common syndrome. > > > > > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% > > > of amnio's if many people carrying children with mosaic down syndrome > > didn't > > > have an amnio? The only way to know would be if there are a high number > > of > > > individuals who had amnio's that didn't detect Mosaic down syndrome and I > > > haven't found individuals yet who had amnio's that detected no down > > syndrome > > > and then their child had mosaic down syndrome....though I know it's > > > possible, I doubt that only 1% can be found in an amnio. So does anyone > > > know if mosaic down syndrome can be found in an amnio and what the > > chances > > > are of finding it through this kind of testing? > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 15, 2010 Report Share Posted January 15, 2010 Hi We have been told by genetic counsellors that whilst CVS testing may not detect MDS, that the amnio definately will! Can I ask how many cells were tested in your case? Since we already have a son with MDS, we have been told that 100 cells would be tested if we were to decide to have another baby and do the amnio. The specialists here in Turkey where we live assure me that MDS would be picked up within those 100 cells....I am now not sure what to believe! Can I also ask what percentage of 's cells are affected and is it only her skin cells that are affected or also blood cells? Does amnio test blood cells or only skin cells? Aologies for all the questions but this topic is really close to my heart at the moment. Many thanks and best regards Leslee > > Mo > > Sent from my Verizon Wireless Phone > > ----- Reply message ----- > > Date: Thu, Jan 7, 2010 8:28 PM > Subject: Re: amnio and mosaicism > To: " Rae " > > I had a negative amino and my daughter has mosaic down syndrome. Because an amino tests skin cells floating around the amniotic sac, it has to retrieve a skin cell with mosaic down syndrome. In my daughters case the amino only retrieved unaffected skin cells so my amino was normal. mom to age 4 > > Sent from my Verizon Wireless Phone > > ----- Reply message ----- > > Date: Thu, Jan 7, 2010 7:57 PM > Subject: amnio and mosaicism > To: <MosaicDS > > > Does anyone know if mosaic down syndrome can be found in an amnio? Someone told me the chance of finding it is around 1% but I question this data for several reasons. 1) I know of 2 people personally who found out they were having a child with mosaic down syndrome through an amnio. 2) Most of the stories I hear are from individuals who didn't have amnio's and found out at birth or later their child had mosaic down syndrome.  3) Only 2% or so of individuals with down syndrome have mosaic down syndrome so it's not a common syndrome. > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% of amnio's if many people carrying children with mosaic down syndrome didn't have an amnio? The only way to know would be if there are a high number of individuals who had amnio's that didn't detect Mosaic down syndrome and I haven't found individuals yet who had amnio's that detected no down syndrome and then their child had mosaic down syndrome....though I know it's possible, I doubt that only 1% can be found in an amnio.  So does anyone know if mosaic down syndrome can be found in an amnio and what the chances are of finding it through this kind of testing? > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 15, 2010 Report Share Posted January 15, 2010 Actually, an amniocentesis *can* detect mosaicism, but it is not necessarily true that an amnio *will* detect it. Routine amnio's test only 20 cells; that is currently the standard in the industry (at least in the USA). Although your test will test 100 cells, that is still not quantitative enough to be within 99% certainty of confidence that a mosaicism does or does not exist. One must test at least 459 cells or more in order to rule out mosaicism of a chromosomal condition to within 1%. There is still a 1% chance with 459 or more cells being examined that a mosaicism will be missed. (Reference: Am J Hum Genet 29:94-97, 1977) > > > > Mo > > > > Sent from my Verizon Wireless Phone > > > > ----- Reply message ----- > > From: " jessicajem1977@ " <jessicajem1977@> > > Date: Thu, Jan 7, 2010 8:28 PM > > Subject: Re: amnio and mosaicism > > To: " Rae " <rae_12377@> > > > > I had a negative amino and my daughter has mosaic down syndrome. Because an amino tests skin cells floating around the amniotic sac, it has to retrieve a skin cell with mosaic down syndrome. In my daughters case the amino only retrieved unaffected skin cells so my amino was normal. mom to age 4 > > > > Sent from my Verizon Wireless Phone > > > > ----- Reply message ----- > > From: " Rae " <rae_12377@> > > Date: Thu, Jan 7, 2010 7:57 PM > > Subject: amnio and mosaicism > > To: <MosaicDS > > > > > Does anyone know if mosaic down syndrome can be found in an amnio? Someone told me the chance of finding it is around 1% but I question this data for several reasons. 1) I know of 2 people personally who found out they were having a child with mosaic down syndrome through an amnio. 2) Most of the stories I hear are from individuals who didn't have amnio's and found out at birth or later their child had mosaic down syndrome.  3) Only 2% or so of individuals with down syndrome have mosaic down syndrome so it's not a common syndrome. > > > > Basically, how can we know Mosaic down syndrome cannot be found in but 1% of amnio's if many people carrying children with mosaic down syndrome didn't have an amnio? The only way to know would be if there are a high number of individuals who had amnio's that didn't detect Mosaic down syndrome and I haven't found individuals yet who had amnio's that detected no down syndrome and then their child had mosaic down syndrome....though I know it's possible, I doubt that only 1% can be found in an amnio.  So does anyone know if mosaic down syndrome can be found in an amnio and what the chances are of finding it through this kind of testing? > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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