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NBMS Site Map
Screening for the remaining recommended disorders is projected to begin January 1, 2009. CYSTIC FIBROSIS - (Link to the CF Foundation)
Screening for Cystic Fibrosis began on March 3, 2008.
CONGENITAL ADRENAL HYPERPLASIA (cah) - (Link to the Cares Foundation)
Screening for this disorder began on November 1, 2007.
Congenital adrenal hyperplasia is a family of inherited disorders of the adrenal cortex. Prompt diagnosis and treatment of CAH is essential to prevent potential mortality as well as physical and emotional morbidity.
Biotinidase deficiency
Began screening for this disorder on July 1, 2007.
Biotinidase deficiency is a disorder of biotin recycling. Biotin is a water soluble vitamin of the B complex. A diagnosis of biotinidase deficiency can be easily treated with vitamin supplementation.
PHENYLKETONURIA (PKU)
An infant diagnosed with PKU means the body is unable to break down a part of the protein called phenylalanine. A phenylalanine buildup can prevent the brain from developing as it should, and can cause mental retardation.
The Office of Maternal, Child and Family Health provides the special formula necessary to treat PKU at no cost to any child with this diagnosis.
In the United States, approximately one child in every 10,000 is born with PKU. In West Virginia, two to three babies a year are born with this condition.
HYPOTHYROIDISM
Hypothyroidism is caused by the absence of thyroid hormone. Thyroid hormone is essential for the growth of the brain and body. The Office of Maternal, Child and Family Health will assist families in obtaining thyroid medications.
Hypothyroidism is a disease which occurs in about one out of 5,000 newborn infants. In West Virginia, four to six babies are born every year with this condition.
GALACTOSEMIA
In a baby with Galactosemia, the body is unable to convert a sugar called galactose to glucose for energy. Galactosemia occurs in approximately one in every 50,000 births in the United States. In West Virginia, one baby is born with this condition each year.
HEMOGLOBINOPATHIES
There are several blood disorders which, although rare, may cause serious problems for infants. These disorders are anemias such as Sickle Cell Disease and Thalassemia and are conditions that occur most frequently in certain ethnic groups. These diseases are most commonly found in children who are of African, Asian, Caribbean, Mediterranean, Middle Eastern, East Indian and South or Central American descent.
Sickle Cell Disease is an inherited disease. It is expected that two or three babies will be born each year in West Virginia with this condition.
