Newborn Screening in West Virginia

Newborn screening programs in West Virginia is not as extensive as programs in other states. At this time, newborns in West Virginia are only screened for Phenylketonuria, Congenital Hypothyroidism, Galactosemia and Sickle Cell Anemia. All these disorders have very serious consequences should they remain undetected in an infant. These consequences often include brain damage such as mental retardation, skeletal development problems, pain, stroke and death. Treatment for these disorders, if began soon enough, can often stop the progression of these consequences and in some cases can reverse the damage. But, even though there are treatments, there are no cures for these disorders.

Phenylketonuria, an amino acid metabolism disorder, occurs when the liver enzyme phenylalanine hydroxylase is either not present or is impaired to the point that it does not function properly. This disorder allows phenylalanine to collect in the infant's brain and cause brain damage unless it is detected immediately after birth and treatment can begin. Treatment for phenylketonuria is a diet low in phenylalanine, which comes from proteins. In West Virginia, infants who test positive for this disorder are put on a formula that restricts phenylalanine intake and is provided to the family for free from the Office of Maternal, Child and Family Health.

Congenital Hypothyroidism, an endocrine disorder, occurs when the thyroid gland is either not present or is impaired to the point that it is not functioning properly leading to a deficiency in the thyroid hormone known as thyroxine. This disorder can cause brain damage as well as physical deformities. Treatment for congenital hypothyroidism is hormone therapy that would replace the missing hormone. In West Virginia, infants who test positive for this disorder are assisted with obtaining the needed thyroid medication by the Office of Maternal, Child and Family Health.

Galactosemia, a metabolic disorder, occurs when the liver enzyme necessary for the conversion of galactose to glucose. Galactose is the sugar found in milk and dairy products and, when an infant has galactosemia, this galactose collects in the body tissue and blood of the infant, leading to organ damage, jaundice, blindness, brain damage, infection and death. Treatment for galactosemia is a diet free of milk and dairy products, including lactose free formula which can be found in stores.

Sickle Cell Anemia, a hemoglobinopathy, is an inherited blood disease that occurs when red blood cells become abnormally shaped, causing oxygen transportation to be affected throughout the infant's body. This disorder can lead to organ damage, stroke and death. Treatment for sickle cell anemia can include pain medications, penicillin, close medical attention and blood transfusions.

Newborn screening in West Virginia will soon increase to cover all 29 disorders as suggested by the March of Dimes. With this increase, the newborns of West Virginia will be off to a better start, beginning before they leave the hospital, even if they test positive for one of these disorders.