Newborn Screening

Virginia Newborn Screening Program

Mission Overview Core Panel | Treatment Organization

MissionNewborn Foot Stamp

To prevent mental retardation, permanent disability, or death through early identification and treatment of infants who are affected by certain heritable disorders and genetic disease.

Overview

The Virginia Newborn Screening Program is a coordinated and comprehensive system consisting of education, dried-blood spot screening tests, follow up and referral, diagnosis, medical and dietary management, and treatment.

This service makes it possible to find out whether newborn babies have disorders that may result in serious problems if treatment is not started soon after birth.

Every newborn in Virginia is tested a few days after birth unless a parent or guardian objects on the grounds that the test conflicts with their religious practices.

The Division of Consolidated Laboratory Services, Virginia Department of General Services, conducts the newborn dried blood spot screening tests in collaboration with the Virginia Department of Health. VDH newborn screening nurses coordinate follow-up activities until the infant is diagnosed, screened negative, or reaches 6 months of age.  Babies who are diagnosed with certain heritable disorders or genetic diseases through newborn blood-spot screening are referred to the Care Connection for Children network for care coordination services.

Virginia Core Panel of Disorders

Effective March 2006, the number of blood-spot screening disorders was expanded to include an additional 17 disorders, as recommended by the American College of Medical Genetics in its report Newborn Screening: Toward a Uniform Screening Panel and System.  The expansion brought the number of blood-spot screening disorders to the recommended 28.  The Virginia Core Panel of Disorders is listed below.

  1. Argininosuccinic acidemia (ASA)
  2. Beta-Ketothiolase deficiency (ßKT)
  3. Biotinidase deficiency (BIOT)
  4. Carnitine uptake defect (CUD)
  5. Citrullinemia (CIT)
  6. Congenital adrenal hyperplasia (CAH)
  7. Congenital hypothyroidism (CH)
  8. Cystic fibrosis (CF)
  9. Galactosemia (GALT)
  10. Glutaric acidemia type I (GA I)
  11. Hemoglobin Sickle/Beta-thalassemia (Hb S/ßTh)
  12. Hemoglobin Sickle/C disease (Hb S/C)
  13. Homocystinuria (HCY)
  14. Isovaleric acidemia (IVA)
  15. Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
  16. Maple syrup urine disease (MSUD)
  17.  Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  18. Methylmalonic acidemia (mutase deficiency) (MUT)
  19. Methylmalonic acidemia (Cbl A,B);
  20. Multiple carboxylase deficiency (MCD)
  21. Phenylketonuria (PKU);
  22. Propionic acidemia (PROP);
  23. Sickle cell anemia (Hb SS disease) (Hb SS);
  24. Tyrosinemia type I (TYR I);
  25. Trifunctional protein deficiency (TFP);
  26. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD);
  27. 3-hydroxy 3-methyl glutaric aciduria (HMG), and
  28. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC).

Treatment Services

Metabolic Treatment Programs

Three metabolic treatment programs are available for children identified through the Newborn Screening Program and provision of food products for management of PKU.

Metabolic treatment procedures are recommended and such treatment is provided for infants in medically indigent families by the following health-care providers.

Eastern Virginia Medical School
Department of Pediatrics
Division of Medical Genetics
601 Children’s Lane
Norfolk, Virginia 23507-1921

University of Virginia
Division of Medical Genetics
Department of Pediatrics
Box 800386
Charlottesville, Virginia 22908-0386

Virginia Commonwealth University
Medical College of Virginia Campus
School of Medicine
Department of Pediatrics

Formula Distribution and Purchase Plan

The Virginia Department of Health’s Formula Distribution and Purchase Plan provides certain metabolic formulas, or mechanisms to purchases these metabolic formulas, to Virginia residents who meet the financial and medical eligibility criteria.  For more information, please contact the Office of Family Health Services, telephone 804-864-7660.

Food/Supplement Reimbursement Plan

The Virginia Department of Health’s Food/Supplement Reimbursement Plan provides limited reimbursement for certain low protein modified foods and/or metabolic supplements to Virginia residents who meet the financial and medical eligibility criteria.  For more information, please contact the Office of Family Health Services, telephone 804-864-7660.

Organization

The Virginia Newborn Screening Program is located within Genetics and Newborn Screening, Division of Child and Adolescent Health, Office of Family Health Services, Virginia Department of Health.