Newborn Screening in Vermont

Newborn screening in Vermont is a program initiated by the Vermont Department of Health that's purpose is to test newborns for disorders that can be the cause of many medical conditions ranging from severe infections to death if not treated. Treatment for these disorders can often stop the disorder from causing any further problems for the infant and in some cases can reverse the outcome of the disorder, making it imperative that these disorders be detected as early as possible so treatment can begin as early as possible.

In Vermont, infants are screened for 21 disorders. These disorders do have some similarities which enable us to divide them into different groups, according to these similarities. Usually the disorders in these individual groups are caused by a missing or malfunctioning enzyme or hormone which can lead to severe medical conditions or even death if they are not treated. Among these groups of disorders are amino acid disorders, metabolic disorders, endocrine disorders, fatty acid disorders, genetic disorders, hemoglobinopathies and organic acid disorders.

Amino acid disorders tested for during newborn screening in Vermont are phenylketonuria, homocystinuria, maple syrup urine disease, argininosuccinic acidemia, citrullinemia and tyrosinemia type I. These disorders materialize when the infant's body does not have the capability to process amino acids and can cause the infant to undergo brain damage leading to mental retardation, psychiatric and behavioral disorders, strokes, liver failure, blindness and death. Treatment for these disorders are a special restrictive diet and/or dialysis.

The metabolic disorder tested for during newborn screening in Vermont is galactosemia, which is a disorder that materializes when the infant's body does not have the capability to change galactose, which is a sugar that is derived from milk, into glucose, which is a sugar that can easily be used by the body. This disorder can cause the infant to undergo vital organ damage, infections, blindness, mental retardation and death if not treated. Treatment for this disorder is simply to eliminate all milk and dairy products from the infant's diet permanently.

Endocrine disorders tested for during newborn screening in Vermont are hypothyroidism and congenital adrenal hyperplasia, which materialize when the infant's body does not have the capability to produce hormones properly and can cause the infant to undergo growth and brain retardation as well as a masculination of female genitals and salt loss. Treatment for these disorders are salt replacement along with hormone replacement.

Hemoglobinopathies tested for during newborn screening in Vermont materialize when the infant's body does not transfer the proper amount of oxygen throughout due to red blood cells not functioning normally or red blood cells that are distorted. Treatment for these disorders is important and can often keep the infant from suffering from abnormal growth, anemia, bone abnormalities, jaundice, repeated infections, delayed puberty, organ damage and death. A chelating agent, vaccinations, blood transfusions and antibiotics are often the treatment for these disorders.

The genetic disorder tested for during newborn screening in Vermont is biotinidase deficiency, which is a disorder that materializes when the infant's body does not have the capability to produce the appropriate amount of biotin. This disorder can cause the infant to undergo rashes, blindness, spasticity, hair loss, seizures, hypotonia, infections, and developmental delays.

Fatty acid disorders tested for during newborn screening in Vermont are medium-chain acyl CoA dehydrogenase deficiency, very long chain Acyl-Coenzyme A dehydrogenase deficiency and long chain 3-hydroxy Acyl-Coenzyme A Dehydrogenase/tri functional protein. These disorders materialize when the infant's body does not have the capability to process fat taken from food products, causing the infant to undergo SIDS, rhabdomyloysis, hypoglycemia, hepatomegaly, Reyes syndrome-like episodes and death without treatment. Fortunately treatment is available and often includes the avoidance of fasting, remaining on a diet that is low-fat, a supplement of carnitine and medical attention that includes glucose monitoring.

Organic acid disorders tested for during newborn screening in Vermont are glutaric acidemia type I, methylmalonic acidemia, proprionic acidemia, beta-methyl crotonyl carboxylase deficiency and isovaleric acidemia. These disorders materialize when the infant's body does not have the capability to process protein from food products, causing the infant to undergo deafness, blindness, rashes, spasticity, learning difficulties, infections, ataxia, allopecia, seizures, coma and death. Treatment for these disorders are usually a diet and supplements.