What is Trisomy 18?

What is Trisomy 18

Former Senator Rick Santorum made headlines recently not for because of his campaign for President but rather because of his young daughter Bella who suffers from a rare genetic condition.

There has been a lot of buzz around the topic of a very rate genetic disorder that affects newborns called Trisomy 18, which made major headlines lately as Presidential Candidate Rick Santorum’s daughter suffers from the condition. We’ve had a few questions about the disorder with most asking what Trisomy 18 is and what causes it so we thought we would provide some information from a few resources online to help answer those questions.

Trisomy 18, also referred to as Edwards Syndrome, is at it’s most basic form a genetic disorder very similar in fact to Down Syndrome. It occurs in about 1 out of every 6000 births in our country and 8 out of 10 of those born with the disorder happen to be female. Unfortunately in most cases the life expectancy of a newborn with this rare condition is not long with many dying before birth. Children who do survive often encounter other health issues related to their hearts, kidneys and other organs which make the survivability rate quite low.

ABC News’ Olivia Katrandjian recently wrote about Trisomy 18 and how it has affected Rick Santorum and his family.

ABC News — Trisomy 18, the genetic disorder that sent Rick Santorum’s daughter Bella to the hospital Saturday evening, kills about 90 percent of children before or during birth and those that do live past birth suffer serious symptoms.

Children with Trisomy 18, also known as Edwards syndrome, have an extra copy of chromosome 18, which causes symptoms like clenched hands, low birth weight, mental deficiency, small head and jaw and an unusual-shaped chest, according to the National Institutes of Health.

“Most children with Trisomy 18 die in the first three months of life, and only 10 to 20 percent survive past the first year,” said Dr. Robert Marion, Chief of Genetics and Developmental Medicine at Children’s Hospital at Montefiore and Albert Einstein College of Medicine.

Tests can be done during pregnancy to determine if the child has Trisomy 18. Half of infants with this condition do not survive beyond the first week of life, and the few children who survive to the teenage years have serious medical and developmental problems, according to the National Institutes of Health.

“Those who survive are almost always girls,” said Marion. “The reason for this is that the condition is more lethal in boys, who die intrauterinely.”

Dr. Ronald Crystal, chair of genetic medicine at Weill Medical College of Cornell University in New York City, said the disease is “invariably fatal,” with survival depending on the severity of symptoms and the quality of care. Bella Santorum, 3, is “already an exception,” he said.

Source: ABC News

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