The genetic condition Trisomy 18 made the news late Saturday when Republican presidential candidate Rick Santorum had to cancel appearances in Florida ahead of the state's primary to be by his youngest daughter Bella's side as she was taken to the hospital. Bella is known to have the genetic condition, which kills 90 percent of the children afflicted with the chromosomal anomaly before or during birth, according to ABC News.
What is Trisomy 18?
Trisomy 18, also known as Edwards syndrome, is an anomaly in which a fetus has three full or partial copies of chromosome 18 present. In a typical pregnancy, a child would have only two of each chromosome. The condition occurs in 1 in 3,000 live births. It is usually fatal either before or during birth, although some children, like three-year old Bella Santorum, survive longer.
Only 5 percent to 10 percent of children born with this condition make it to their first birthday because the presence of the anomaly comes with severe physical and mental difficulties. According to the Lucile Packard Children's Hospital at Stanford, few children make it to their teens and young adulthood with Trisomy 18, but that is extremely rare.
Two of the three types of Trisomy 18 are independently occurring anomalies, which means they are not hereditary and passed from parent to child. Approximately 95 percent of those children with Trisomy 18 have what is referred to as "full" Trisomy 18, which means that the third chromosome 18 exists throughout the entire body. Trisomy 18 is three times more likely to occur in females rather than males.
How is it different than Trisomy 21?
Trisomy 21 is the most common chromosomal anomaly in children. Otherwise known as Down's syndrome, Trisomy 21 does not present with the same severity of physical difficulties that are par for the course with Trisomy 18. At least half of the people with Down's Syndrome can now expect to live a more typical life span, where that is not the case with Trisomy 18, according to EmaxHealth.
What are the symptoms and difficulties of Trisomy 18?
Trisomy 18 interferes with a fetus' normal development. As such, it can cause a host of physical and mental problems. Physical issues include a small head, small jaw, malformed ears, unusually shaped chest, signs of congenital heart disease, malformed or malfunctioning kidneys, clenched hands, and feet with a rounded bottom, among other conditions, according to the National Institutes of Health's MedLine Plus. Mental deficiencies are also a hallmark of the condition.
Is there any way to prevent Trisomy 18?
Not at this time. A test can be done while the child is still in utero to determine whether or not the condition is present, but it cannot be halted or reversed if discovered.
Vanessa Evans is a musician and freelance writer based in Michigan, with a lifelong interest in health and nutrition issues.
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