Guest guest Posted October 12, 2003 Report Share Posted October 12, 2003 Leanne, When I was pregnant with my daugher, who is now 4yrs old and has BPES, my 20week ultrasound also showed Choroid Plexus cysts. A repeat ultrasound at 32 week showed they had resolved themselves. With my second child, my ultrasound was normal and he does not have BPES. My husband has BPES, but at that time we did not know it was autosomal dominant (or 50% chance with each pregnancy of passing it on). You are the first one to bring this up and I had never heard about the possible link of choroid plexus cysts and chromosomal abnormality. Wonder if there is a connection with BPES???? My ultrasound did not show any findings regarding the heart but my daughter does have a heart murmur that the pediatrician does not feel is significant. The surgeon who treats my daughter says it makes sense when you look at the connection due to when the baby develops there is a midline closure problem with the eyes and this can also occur in the heart. She is not limited by the murmur and is very happy and full of energy. Her development is actually above average. Her second surgery is this month to correct the ptosis. Her first was done to correct the epicanthal folds. We are so blessed to have her. I'm glad we didn't know about the chance of passing it on, we may not have had children and we would have missed out on a very special little girl being part of our lives. (Her preschool teacher has nicknamed her HAPPY due to her personality). Hope this helps to ease your mind. Blessings to you. Patty Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 12, 2003 Report Share Posted October 12, 2003 Leanne, Now after re-reading your email, I think I misunderstood. I thought you were talking about a CURRENT pregnancy, not your child's with BPES. Anyway, I find our ultrasound results quite interesting. Patty Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 12, 2003 Report Share Posted October 12, 2003 The only medication I took while pregnant was antibiotic for having an ear infection, I think it was amoxicillin, which is very mild and given to pregnant woman, so it has NO link to blephs, But at my 2nd ultrasound at 18 weeks, they found 2 things, an *Echogenic Cardiac Focus* which is a bright spot on the heart, and a *Choroid Plexus Cyst* on his brain, which are fluid filled cysts that assist fluid to the spinal cord, they said these cysts only show up in a few scans at 18 weeks, but together with the bright spot on his heart, meant the baby might have down syndrome! or some kind of chromasonal abnormality, but downs been the most obvious, So you can imagine what we must have felt!, they said to have an amniocentisis, which I didn't because there would be risk of miscarriage having it, and the dr said with me being only 29, healthy etc...the baby would be born just fine, apparently these cysts just disappear during pregnancy, there is great controversy over them, but long story short, we were very anxious to meet this baby:), my midwife, dr said there would be nothing wrong with it, so when Ethan was born we could see that he wasn't downs, but he wouldn't open his eyes, which was unlike our 1st son Tyler, he was nosey as soon as he was out:)...my midwife took him away after a while cause she knew something was different, but he still wouldn't open them until the next day, and then only a little, you all know how it went, what we found so weird was what we went through with the scans,and what we were told about downs, then getting pretty much told from midwife etc, we have nothing to worry about, but still Ethan was born with blephs! its so ironic we thought, especially as no-one in the family has this, so what I am trying to say, Just wonder if what they found in the scan has any link to blephs while I was pregnant Did any other woman get told anything like this in there 18 week scans??? let me know....Leanne:) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 12, 2003 Report Share Posted October 12, 2003 With ultrasounds i had of my 2 kids with BPES they were perfectly normal. Everything looked fine in the ultrasound. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 12, 2003 Report Share Posted October 12, 2003 The ultrasound at 18 weeks for my daughter Caylie (who is affected with Bleph) was totally normal. I have had 3 ultrasounds for this baby so far, and they have all been normal too. Obviously we will not know for sure that everything is o.k. until after he/she is born. We will keep you posted. Trish blepharophimosis Pregnancy & Blephs The only medication I took while pregnant was antibiotic for having an ear infection, I think it was amoxicillin, which is very mild and given to pregnant woman, so it has NO link to blephs, But at my 2nd ultrasound at 18 weeks, they found 2 things, an *Echogenic Cardiac Focus* which is a bright spot on the heart, and a *Choroid Plexus Cyst* on his brain, which are fluid filled cysts that assist fluid to the spinal cord, they said these cysts only show up in a few scans at 18 weeks, but together with the bright spot on his heart, meant the baby might have down syndrome! or some kind of chromasonal abnormality, but downs been the most obvious, So you can imagine what we must have felt!, they said to have an amniocentisis, which I didn't because there would be risk of miscarriage having it, and the dr said with me being only 29, healthy etc...the baby would be born just fine, apparently these cysts just disappear during pregnancy, there is great controversy over them, but long story short, we were very anxious to meet this baby:), my midwife, dr said there would be nothing wrong with it, so when Ethan was born we could see that he wasn't downs, but he wouldn't open his eyes, which was unlike our 1st son Tyler, he was nosey as soon as he was out:)...my midwife took him away after a while cause she knew something was different, but he still wouldn't open them until the next day, and then only a little, you all know how it went, what we found so weird was what we went through with the scans,and what we were told about downs, then getting pretty much told from midwife etc, we have nothing to worry about, but still Ethan was born with blephs! its so ironic we thought, especially as no-one in the family has this, so what I am trying to say, Just wonder if what they found in the scan has any link to blephs while I was pregnant Did any other woman get told anything like this in there 18 week scans??? let me know....Leanne:) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 13, 2003 Report Share Posted October 13, 2003 Good Evening All, When I was pregnant with Nataley, we were sent for a special ultrasound because Nataley's head was too big according to the size of her femur. It turned out that Nat was ok. After a normal delivery it was determined that Nat had PDA. There was a valve in her heart that was supposed to close as she took her first breath, but it did not. It did not close until she was about 8 weeks old. We haven't had any problems with her heart since then. Sallythefelton4@... wrote: Leanne,When I was pregnant with my daugher, who is now 4yrs old and has BPES, my 20week ultrasound also showed Choroid Plexus cysts. A repeat ultrasound at 32 week showed they had resolved themselves. With my second child, my ultrasound was normal and he does not have BPES. My husband has BPES, but at that time we did not know it was autosomal dominant (or 50% chance with each pregnancy of passing it on). You are the first one to bring this up and I had never heard about the possible link of choroid plexus cysts and chromosomal abnormality. Wonder if there is a connection with BPES????My ultrasound did not show any findings regarding the heart but my daughter does have a heart murmur that the pediatrician does not feel is significant. The surgeon who treats my daughter says it makes sense when you look at the connection due to when the baby develops there is a midline closure problem with the eyes and this can also occur in the heart. She is not limited by the murmur and is very happy and full of energy. Her development is actually above average. Her second surgery is this month to correct the ptosis. Her first was done to correct the epicanthal folds. We are so blessed to have her. I'm glad we didn't know about the chance of passing it on, we may not have had children and we would have missed out on a very special little girl being part of our lives. (Her preschool teacher has nicknamed her HAPPY due to her personality). Hope this helps to ease your mind. Blessings to you.Patty Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 15, 2003 Report Share Posted October 15, 2003 Hi patty...Yes I was talking about our son Ethan who does have blephs, everything went totally normal and perfect with our 1st sons pregnancy, who doesn't have blephs...We did have another scan at about 32 weeks also, and yes the cysts had disappeared like they said they would've:)...He was checked as soon as he was born by a peditrician, he said he was fine and that he has no heart murmur?...He is perfectly healthy!...Its funny thinking back now, When he did check him, he put his eyes down to been swollen from the birth!... Love , Leanne, Tyler & ethan Re: blepharophimosis Pregnancy & Blephs Leanne,Now after re-reading your email, I think I misunderstood. I thought you were talking about a CURRENT pregnancy, not your child's with BPES. Anyway, I find our ultrasound results quite interesting.Patty Quote Link to comment Share on other sites More sharing options...
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