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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.
It does almost look as if some dark red wine has stained the skin. While an obvious port wine stain did not stop Mikhail Gorbachev from becoming president of the Soviet Union, many families don’t want their port wine stains to remain so obvious.
What is a port wine stain?
A port wine stain, or nevus flammeus, is a birthmark consisting of malformed, dilated blood vessels in the skin. It is not a type of hemangioma.
Who gets a port wine stain?
Anyone can be born with a port wine stain. They occur in 1 in 200 to 400 babies.
What are the symptoms of a port wine stain?
These are flat, dark red patches, most commonly found on the face or limbs. They tend not to cross the midline. Usually they are not associated with other symptoms. However, port wine stains around the eye suggest that glaucoma may develop in that eye. Also, port wine stains on the eyelid or forehead sometimes signal a similar stain in the brain (Sturge-Weber syndrome). Other syndromes may be associated with port wine stains, but they are usually suggested by other symptoms that are obvious.
Is a port wine stain contagious?
No
How long does a port wine stain last?
Port wine stains are present at birth. Although they may fade some, most port wine stains are permanent unless treated. Sometimes they get darker and more textured over time.
How is a port wine stain diagnosed?
The diagnosis is usually made by the physical appearance. Physicians should consider possible associated syndromes, including Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome, Beckwith-Weidemann syndrome, Bonnet-Bechaume-Blanc syndrome, Cobb syndrome, and Proteus syndrome.
How is a port wine stain treated?
Treatment is for cosmetic, social, and psychological benefit. Depending on the birthmark and the setting, this may be very important, or not important at all.
Laser treatment (such as the flashlamp-pumped-pulsed dye laser) can be very effective. Some families choose masking make-up, skin grafts, tattoos, or cutting out the birthmark. Some choose no treatment at all.
How can a port wine stain be prevented?
There is no effective prevention for port wine stains.
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