Santorum Girl Defies Contradiction Trisomy 18

At the age of three years, Rick Santorum's daughter Bella, who was hospitalized a second time during his presidential campaign, has survived, most children born with trisomy 18, with respect to common chromosomal defects that occur in the order of all newborns from 3000 to 5000 and three times more common in girls than boys.

Children with trisomy 18, also known as Edwards syndrome have three copies of chromosome 18 instead of the usual two, in their cells. Many affected pregnancies fetal miscarriage, and half of all children suffered zaversheny be stillborn, according to the Trisomy 18 Foundation. In most cases, are not inherited but occur as random errors in cell division during the formation of eggs and sperm, according to the National Library of Medicine.

About 5 percent to 10 percent of children with trisomy 18 survive the first year of life, and they often have severe disabilities, in accordance with the library of the National Institutes of Health.

"They usually die from an inability to breathe," said Dr. Larry Fenton, director of pediatric palliative care in the hospital Sanford Children in Sioux Falls, SD "mechanism of the brain tells the lungs to expand is often defective."

Nevertheless, "while mental retardation in children with trisomy 18 ... has a value, it is important to recognize that children in advance to some extent, their steps," Dr. John Carey, pediatric geneticist at the University of Utah Center for Science Health, writes on the website of the Fund trisomy 18. "They can interact with their families, to smile and to acquire certain skills, such as turning, self feeding, etc., if they survive infancy."

The reason for the hospitalization of the current Bell was not released.

"Rick and his wife took their daughter, Karen Bell at the hospital. Family requests prayers and solitude that Bella works her way to recovery," Santorum Communications Director Hogan Gidley said in a statement.

In January she was taken to a hospital in Virginia, where she developed double pneumonia.

A small number of children with trisomy 18, as a rule, women living in age from 20 to 30 years, depending on the base. Nevertheless, the organization says they have "significant delays in development, which do not allow them to live independently without the help of aid."

Those who survive the first year generally can not talk and walk, and need some kind of a feeding tube to be fed, Fenton said. While they can breathe, they can die from pneumonia or other infectious diseases, he said. Largely because they spend so much time in bed. "These are not things that help clear the lungs, so they are more vulnerable to infections."

Recently, Fenton said, he met 30-year-old woman with trisomy 18, the oldest person he ever met disorders. "I must say that she was profoundly disabled one hand, and more beautiful. She was impeccably dressed. She makeup. She knew that her mom and dad, and can go to them."

Few Children Will Not Survive long With Trisomy 18

Conclusion Rick Santorum race for the Republican presidential Tuesday once again drew attention to a rare genetic condition his 3-year-old daughter, Bella.

As a former U.S. senator from Pennsylvania has repeatedly stated that his daughter had already beaten the chances of survival of children with trisomy 18. Nearly 60 percent of babies who die from the condition in the hospital a few days after birth. Only 5 to 10 percent survive one year. Only 1 percent of them live 10 birthday, with long survival, which is much more likely to have girls.

Bell, whose full name of Isabella, who was born in 2008. The family did not provide details about his condition, although it was recently hospitalized with pneumonia would be the second time this year.

Children with trisomy 18 (sometimes also called Edwards syndrome) have three copies of chromosome 18 instead of two. Humans have 22 pairs of chromosomes, regular (so-called "autosomes") and one pair of sex chromosomes, with one half of each pair contributed by the father and half from the mother. The cause of the disease is unknown, although, as with the same defects, children with older mothers are more at risk.

Trisomy 18 is one of the three most common chromosomal abnormalities, although this rarely occurs in 1 in 8000 newborns.

It can be found before birth by microscopic examination of amniotic fluid and ultrasound. Three-quarters of the fetus diagnosed with a miscarriage or stillbirth from 12 weeks of pregnancy and childbirth. Some of them are selectively aborted.

Almost all children with trisomy 18 were multiple organ defects. Almost all have abnormal heart with a hole between the large chambers of the heart, the ventricles, the default is the most common. One-third of them have a horseshoe kidney, and one fifth were abnormal esophagus. Mental retardation is common but not universal, and many of them have distinctive facial features, such as low-set ears.

About 90 percent are underweight at birth, and some of them early, which further jeopardizes their health in the first days after birth.

Infections are common, persistent problems in children with trisomy 18 who survived.

Last year, researchers at Tufts University analyzed the genes were more or less active in fetuses with trisomy 18 than in those who do not have the disease. They found that 251 "activation" has been significantly different.

Surprisingly, only 3 per cent of these genes on chromosome 18 were. This suggests that many problems are the result of bad signals from the chromosome 18 gene is probably normal genes on other chromosomes.

Among the genes affected are those that regulate the immune system, which is probably due to an unusual susceptibility to infection in children.

Staff researcher Lucy Shackelford contributed to this report.