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Trisomy 18 is a genetic disorder caused by an extra copy of chromosome 18, leading to severe organ and brain development impairments. It is the second most common chromosomal defect, with symptoms including birth defects, underdeveloped brains, and physical deformities. Treatment aims to reduce pain and repair structural abnormalities, but survival beyond adolescence is rare.
Trisomy 18 is a congenital disorder that results from an extra copy of chromosome 18. The third chromosome severely impairs organ and brain development in the fetus and often leads to fatal complications within the first few weeks of life. Children who survive infancy are often physically deformed and have severe cognitive deficiencies. The main treatment goals for a patient with trisomy 18 are to reduce pain and repair the structural abnormalities of the heart and lungs, giving the child the best chance of surviving their bygone childhood.
Healthy children are born with 23 pairs of chromosomes, receiving an equal number from each parent. A child with this disorder acquires an extra copy of the chromosome from a parent, usually the mother, due to a second round of meiosis during early development. Trisomy 18 is the second most common chromosomal defect, although it is much rarer than trisomy 21, the disorder responsible for Down syndrome. It is about three times more likely to affect female fetuses than males.
Symptoms commonly seen in a baby with trisomy 18 include a smaller than average head, low birth weight, and a concave chest cavity. Babies often have birth defects that impair their ability to feed and breathe without medical assistance. Internal organs can be displaced or deformed, and most children have underdeveloped brains. It is also common for a child to have constantly clenched hands, crossed legs, and oddly shaped feet. Additional physical symptoms vary from patient to patient.
Obstetricians may be able to notice the signs of trisomy 18 before a baby is born via ultrasound images. After a baby is born, genetic testing on a sample of skin or blood cells can confirm the presence of an extra chromosome. Once the disorder has been diagnosed, specialists can create a personalized treatment plan based on your child’s specific problems. Your child may need to receive emergency surgical procedures to repair congenital disorders of the heart, lungs, kidneys, or gastrointestinal tract. He or she is often fitted with breathing and feeding tubes and kept in the hospital for several months for close monitoring.
A baby who survives the first few months of life may be able to go home with its parents. He will need to receive regular checkups in infancy and take daily medications to avoid life-threatening complications. Very few people with the disorder survive beyond adolescence, and those who reach adulthood are severely mentally and physically handicapped, requiring constant attention and assistance in daily activities.
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