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Fast Fact
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.
Polydactylism, or having one or more extra fingers or toes, is probably the most common abnormality of development found at birth. Polydactylism is reported in about 2 per 1000 children. The true incidence is probably even higher since simple cases are not always reported. While polydactylism can be seen in conjunction with other birth defects, the majority of cases are not associated with any other physical abnormalities.
An extra finger or toe may be nothing more than a nubbin of soft tissue with no bone involvement, it may be a full digit that forks off one of the five normal long bones of the hand or foot, or it may be a complete extra digit with its own extra long bone in the hand or foot -- or almost any variation between these possibilities.
The most common form of polydactyly is a small, soft, extra finger that contains no bone. Many of these can be easily treated at birth by the attending physician who ties a suture tightly around the base. The extra digit falls off, and the normal-appearing hand or foot heals quickly.
If there might be bone in the extra digits, X rays should be obtained to give a clear picture of what is going on. In some instances, it is still difficult to decide which digit should be removed, and close observation of the function of the hands and feet as they develop can give the answer.
Complex polydactyly is usually not repaired until a child is one year old. Generally, the digit that is best aligned with the long bones is saved. When the other digit is removed, sometimes transferring tendons from the amputated digit will make the one that remains more normal. Sometimes a joint needs to be reconstructed, or a bony prominence shaved. If the case is complex, an orthopedic or plastic surgeon with expertise in hands and feet is preferred. Usually the results are excellent.
In an effort to identify plants that can filter air in sealed environments, NASA spent 2 years testing common plants to determine the best natural filters. Check out the top ten list to find plants that perform the best in removing formaldehyde, benzene and carbon monoxide, three common yet toxic contaminants that we regularly find indoors.
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