Ask the Expert | What health conditions are newborns screened for in Virginia?

To prevent adverse outcomes from undiagnosed illnesses, newborn infants in Virginia are screened for a variety of rare and serious disorders.

Just after birth, babies are assessed for conditions that may have improved outcomes if caught early, improving children’s health, development and survival. When a potentially fatal or disabling disorder is identified before a baby has signs or symptoms of that disorder, treatment or prevention may be more effective.

This screening is done in three ways: heart screening, hearing screening and a blood test. In the newborn nursery or hospital after birth, an infant will have a pulse oximetry test to measure oxygen levels in the blood, a hearing assessment to assess neonatal hearing, and a dried blood spot test.

This blood spot is sent to the state laboratory to assess or screen for several conditions. In the state of Virginia, newborns are screened for 35 conditions (a full list is below, and more information is available at www.vdh.virginia.gov/newborn-screening/). These generally fall under several categories: genetic/metabolic (including amino acid disorders, fatty acid oxidation disorders, organic acid disorders), neurological conditions (including lysosomal storage disorders, spinal muscular atrophy), endocrine disorders (congenital hypothyroidism and congenital adrenal hyperplasia), disorders of the immune system, hematologic disorders (thalassemia and sickle cell anemia) and several other conditions.

One recent addition to the newborn screen in the state of Virginia to highlight is the new test for spinal muscular atrophy (SMA). SMA is a progressive neuromuscular disorder of the motor neurons in the brain and spinal cord that help control muscle movement, leading to severe progressive weakness in infants and children. Prior to 2016, there were no treatments available, and this was not part of newborn screening in Virginia. However, with the advent of new, life-saving treatments for this rare disorder, early diagnosis is very important.

The earlier an infant can be treated for this disease, the better the outcomes in saving the motor neuron function and halting the progressive weakness. SMA was added to the newborn screening to allow infants to be identified within days of birth, be treated quickly, and prevent death or significant weakness and illness. Like many of the disorders on the newborn screening panel, early identification saves lives.

Infants identified with one of the conditions that are part of Virginia’s newborn screening panel can then receive follow-up care at one of several specialty clinics at UVa Children’s, including pediatric genetics, pediatric cardiology, pediatric hematology, pediatric neuromuscular/neurodevelopmental, pediatric ENT, pediatric endocrinology, pediatric pulmonology and immunology.

Health conditions screened for in Virginia:

Amino Acid Disorders

Argininosuccinic Aciduria.

Citrullinemia, Type I.

Classic Phenylketonuria.

Homocystinuria.

Maple Syrup Urine Disease.

Tyrosinemia, Type I.

Endocrine disorders

Congenital Adrenal Hyperplasia.

Primary Congenital Hypothyroidism.

Fatty acid oxidation disorders

Carnitine Uptake Defect.

Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Trifunctional Protein Deficiency.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Hemoglobin disorders

S, Beta-Thalassemia.

S, C Disease.

Sickle Cell Anemia.

Lysosomal storage disorders

Mucopolysaccharidosis Type-I.

Organic acid conditions

3-Hydroxy-3-Methylglutaric Aciduria.

3-Methylcrotonyl-CoA Carboxylase Deficiency.

Beta-Ketothiolase Deficiency.

Glutaric Acidemia, Type I.

Holocarboxylase Synthetase Deficiency.

Isovaleric Acidemia.

Methylmalonic Acidemia (Cobalamin Disorders).

Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency).

Propionic Acidemia.

Other disorders

Adrenoleukodystrophy.

Biotinidase Deficiency.

Classic Galactosemia.

Critical Congenital Heart Disease.

Cystic Fibrosis.

Hearing loss.

Severe Combined Immunodeficiency.

Spinal Muscular Atrophy.

For more information, visit childrens.uvahealth.com.