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OMCFH/Newborn Screening

Lab Tests
(Recommended Newborn Screenings)

(304) 558-5388 or Toll-Free (In WV) 1-800-642-8522

 
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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.

AMINO ACID DISORDERS

Amino acid disorders are caused by the body’s inability to breakdown or metabolize certain amino acids in proteins, or by the inability to detoxify the by-product of amino acids (ammonia).  Following are disorders within the Amino Acid category:

  • Phenylketonuria (PKU)

  • Maple Syrup Urine Disease (MSUD)

  • Tyrosinemia (TY-ro-SIN-e-me-ah)

  • Homocystinuria (HO-mo-SIS-tin-u-ree-ah)

OTHER (AMINO ACID) DISORDERS

Because of the lack of one of several enzymes, the nitrogen builds up as ammonia in the blood. This makes the baby very sick very fast. These disorders cause seizures, poor muscle tone, breathing problems, and coma. Death will result if the baby is not treated. Symptoms can be lessened with special diet and medications.

  • Argininosuccinic Aciduria (ASA)

  • Citrullinemia (CIT)

FATTY ACID OXIDATION DISORDERS

The body usually gets energy from sugars and fats. The sugar is used first but when the sugar is all used up, the body must use fats. In this group of disorders, the body cannot use fats because of the lack of one of several enzymes. The disorders in this group do not have common names. They are usually described by the length of the fatty acid that cannot be used.

The most common of these is Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD). Because they cannot use stored fat for energy, babies with these disorders may develop seizures, coma and life threatening complications when fasting (no food eaten for longer than 4 hours). Treatment includes making sure the baby eats regularly and avoiding fasting. A special diet and medications may also be used.

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

  • Trifunctional Protein Deficiency (TFP Deficiency)

  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

  • Carnitine uptake defect (CUD)

ORGANIC ACIDEMIAS

Babies with some of these disorders can become very sick very fast. Symptoms can sometimes be lessened with special diets (low in protein) and medications. Most of these disorders do not have common names and are described by the name of the organic acid found in the urine. The organic acidemias included in the West Virginia Newborn Screening Program are:

  • Isovaleric Acidemia (IVA)

  • Glutaric Acidemia

  • 3-Hydroxy-3Methylglutaryl-C0A Lyase Deficiency (HMG)

  • Multiple CoA Carboxylase Deficiency (MCD)

  • Methylmalonic Acidemia due to Mutase Deficiency (MUT)

  • Methylmalonic Acidemia (Cbl A & B)

  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)

  • Propionic Acidemia (PROP)

  • Beta-Ketothiolase Deficiency (BKT)

HEARING SCREENING (HEAR)

Most babies can hear well at birth, but a few do not. We test all babies to find the ones who may not be able to hear. Testing is the only way to know if your baby has hearing loss. It is important to find hearing loss as soon as possible. Babies whose hearing loss is not found early will have a hard time learning. If we find hearing loss early, there are many ways we can help your baby. Make sure your baby’s hearing is tested before you leave the hospital.

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