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what is trisomy 13 syndrome? |
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by rdw206  (August 2007) (rank 500+) |
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i`m writing this because it happened to me and my family because when we found out what was wrong with our baby and told people,they didn`t know what it was.we ended up refering people to look it up on the internet and requested a facts sheet from the genetics department
at the hospital for them to read.it`s just a quick overveiw of the disease.
Trisomy 13 is also known as Patau syndrome.it is the rarest out of three chromsome conditions the most common being downs syndrome the other is trisomy 18 or edwards syndrome.it is a condition that affects chromsomal condition occurs when you have all or part of chromosome 13 appear 3 times.as most people know we have 46 chromosomes.23 from the egg and 23 from the sperm.with trisomy 13 a mistake will sometimes occur when the egg or sperm are forming resulting in an egg or sperm with only 22 chromsomes or 24 chromsomes.if an egg or sperm carrying the extra chrosome it results in a baby with 47 chromsomes like the most common known chromsome disease downs syndrome.there is full trisomy 13 which is fatal and mosaic which i know from visiting websites there are children that have survived.mosiacism occur when someone has a mixture of chromsomal patterns in different cells usually a mixture of cells with the correct number of chromsomes and cells which have the chromsomal abnormality and chromsomally abnormal cells.this also determines how severely affected the person will be.
Trisomy 13 can lead to many developmental problems and can also cause deformities.some of these are
developmental delays
profound mental retardation
usually small eyes
cleft lip/palate
extar fingers or toes
incomplete development of the brain
kidney malfunctions
heart defects
most babies with trisomy 13 do not grow and gain weight as do healthy babies and they also have severe feeding difficulties.the survival of babies with trisomy 13 depends on how severely they are affected.only 5% of babies with this will survive their first year.most are miscarried earlier in the pregnancy and it is more common in girls than boys.
any one can be at risk of having a child with this(i`m proof of that since i`m 32yrs)but woman over the age of 35 are at greater risk of having a child with trisomy 13.it is estimated that 1 out of every 3-4 fertilised eggs are chromsomally abnormal and increases with the mothers age.at sometime they say most people have had a chromosomally abnormal conception which might have ended in miscarriage or not even been recognised as a pregnancy because the miscarriage occured very early.
the screening tests you can have for diagnosis of trisomy 13 are the nuchal translucency ultrasound which is usually used to detect downs syndrome but it can pick other things like heart defects cleft palate and other things that can be fixed after birth.cvs or chorionic villus sampling and the amniocentesis.
with us it got picked up at the 19 week ultrasound we then had the amniocentesis to confirm that it was trisomy 13.our baby girl had a cleft lip.heart defect and the back of her brain wasn`t formed properly.we were advised to terminate the pregnancy before it went further along because she more than likely wouldn`t survive fullterm or birth and it can also cause health problems for the mother.i was 20 weeks to the day when i had labour induced.you have to actually give birth like you are having a fullterm baby.we named her registered her birth.the hospital is great they took photos for us and they cremated her and we now have her ashes at home with us.i wouldn`t wish this upon anyone.if you want more information wikepedia has some or just do what i did and type trisomy 13 into your search engine and you`ll find plenty of sites.
