Trisomy 13 (also called Patau Syndrome) occurs in up to 1 out of 5,000 newborns (Smith's Recognizable Patterns of Human Malformation, Saunders 1988).
The 13th chromosome contains blueprints that direct a baby's development in the early weeks following conception. When a child has an extra 13th chromosome (three copies, instead of two), as is the case in trisomy 13, the genetic messages are confused and contradictory. This results in multiple significant defects in major organ systems.
The brain is often the most severely affected. Most children with trisomy 13 also have some kind of heart defect. It's not unusual for these children to be born blind, deaf, and with no sense of smell. Children with trisomy 13 may also have abnormalities in the shape of their lips, eyes, ears, fingers, toes, and bones.
Trisomy 13 was first described in 1657, but four hundred fifty years of medical knowledge have not improved the outlook for children born with this syndrome.
Most babies who are conceived with trisomy 13 die early in gestation. Of the babies who live to be born, about 44 % die within the first month and 69% die by six months. Only 18 percent reach their first birthdays -- and these children tend to have severe mental defects and seizures (Smith's Recognizable Patterns of Human Malformation, Saunders 1988).
A blood test, called the AFP (alphafetoprotein) or triple screen, may help a pregnant woman find out her baby’s risk of several diseases, including Trisomy 21 (Down Syndrome) and Trisomy 13, though it can not give a definite answer.
Trisomy 13 is often detectable on ultrasound as early as 10 weeks. Chorionic villous sampling can detect trisomy 13 by 12 weeks. Amniocentesis, usually performed after 16 weeks gestation, can give a definite answer if any question still remains.
A trisomy 13 translocation is not associated with mom's age, but is a hereditary chromosome problem. The risk of recurrence in some types of (balanced) translocations can be quite high.
My baby, Troy, was born with Trisomy 13. He's almost 3 months old now. The doctors had grim reports based on what they knew about the Syndrome and said they did not expect him to live. We had initially agreed to take the test, but then I saw a special needs boy in person and thought to myself... he looks happy! We wouldn't want to do anything about it if it came back positive. So we declined the test. I'm glad that we did because we could have made a terrible mistake. Doctors usually tell the patients that Trisomy 13 is "incompatible with life" and that they will be severely retarded and will probably not live more than a few hours after being born. What I didn't realize, was that the baby can turn out to be healthy and happy.... like ours.
Im so sorry to hear about matthew. My wife had just been detected with the same Trisomy 13 in her fetus.
We are performing TOP surgery tomorrow.
Was told too it is a boy. i am soo heart broken, and finding it difficult to cope with the thought.
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Proud Daddy
my baby REESE was born
matthew
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to matthews mom
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To Matthew's Mom ....