Virginia Newborn Screening Services screens infants born in the Commonwealth for selected heritable disorders and genetic diseases, which are identified through newborn dried blood-spot screening tests. Effective March 2006, the disorders were expanded to include the additional 17 disorders recommended by the American College of Medical Genetics in its report, ”Newborn Screening: Toward a Uniform Screening Panel and System” This expansion brings the number of disorders screened to the recommended 28. Infants are generally screened within the first few days after birth, but may receive screening services until they reach 6 months of age. Due to the state laboratories procedures and cutoff levels, which are based on normal infants hematocrit, screening for infants 6 months and older must be conducted by laboratories that conduct testing for children and adults. The disorders screened are listed below.
Newborn Screening Services Expanded Panel Implementation Powerpoint
Newborn screening is a service through the Virginia Department of Health. The screening tests are performed by the Virginia Department of General Services, Division of Consolidated Laboratories (DCLS), which is located in Richmond. Every infant is tested unless a parent or guardian objects on the grounds that the test conflicts with their religious practice.
Parent Information - For general information about newborn screening, please visit:
Code of Virginia - For more information about Virginia's mandated newborn screening services, please visit Search Code of Virginia for the following sections:
Parent Information: Biotinidase Deficiency: A Booklet for Families and Professionals . By Deborah L. Thibodeau, M.S. and Barry Wolf, M.D., Ph.D., Departments of Human Genetics and Pediatrics, Medical College of Virginia of Virginia Commonwealth University.
http://views.vcu.edu/biotin/
Congenital Adrenal Hyperplasia (CAH)
(kon-JEN-i-tal a-DRE-nal hi-per-PLA-ze-a), results when certain hormones cannot be made by the body due to a genetic defect. Babies may develop vomiting and severe dehydration which may be life threatening. If left untreated, CAH may result in death in the newborn.
Congenital Hypothyroidism
(HI-pO-THI-royd-ism), results when the baby's body does not produce enough of a hormone (substance) called thyroxin. Treatment with thyroxin tablets helps prevent mental retardation and growth retardation.
Galactosemia
(ga-LAK-toe-see-ma-a), results when milk sugar (galactose) is not broken down due to the lack of a chemical in the body. A diet low is galactose can prevent irreversible brain damage and other complications
Homocystinuria
(HO-mo-SIS-tin-u-ree-ah), results from the absence of a chemical in the liver. A special diet can help prevent mental retardation, body changes, and life-threatening complications.
Maple Syrup Urine Disease (MSUD),
results when the baby's body does not break down parts of a food protein causing the urine to smell like maple syrup. Treatment with a special diet can prevent mental retardation and other complications.
Phenylketonuria (PKU)
(FEN-nil-KEE-tone-u-ree-ah), is also called PKU and results when a part of a food protein (phenylalanine) is not broken down by the baby's body. Brain damage, which would normally result, can be prevented by a special diet low in phenylalanine.
Hemoglobinopathies (including Sickle Cell Disease)
(he'-mo-glo-bi-nop'-ah-thes), are inherited disorders of the blood. There are many kinds of hemoglobinopathies. Some are serious (sickle cell anemia, sickle C, and sickle thalassemia) and others are less serious (sickle cell trait). Comprehensive medical care and treatment with penicillin can help prevent infections and other complications in the most serious disorders.
Global Sickle Cell Forum is a dynamic interactive web forum devoted to the management of sickle cell disease in pediatric patients. Here you can participate in online discussions with colleagues from all over the world and share information about important disease management issues:
Visit their website at www.sicklecellforum.org.
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
wgw@virginia.edu
Virginia Commonwealth University
Medical College of Virginia Campus
School of Medicine
Department of Pediatrics
LLduncan@hsc.vcu.edu
The health-care providers offer physician and nutrition consultation.
In addition, special food products required in the management of phenylketonuia are provided to (i) the parents or guardian of any child or (ii) any pregnant woman, who is a legal resident of the Commonwealth and who is diagnosed as requiring treatment for phenylketonuria.
Code of Virginia - For more information about Virginia's mandated treatment services, including treatment for phenylketonuria, please visit Search Code of Virginia for the following section:
The Virginia Congenital Anomalies Reporting and Education System (VaCARES) is a birth registry of children under age two with congenital anomalies. It collects epidemiological data and lets families know about treatment programs.
VaCARES managed by the Virginia Genetics Program with consultation provided by Virginia Commonwealth University, Department of Human Genetics.
More Information - For more information about birth defects, please visit March of Dimes: Birth Defects Information.
Code of Virginia - For more information about Virginia's mandated birth defects system, please visit Search Code of Virginia for the following section:
There are four Regional Genetic Centers that provide genetic testing, counseling, and education for all residents, especially those with very limited resources.
Virginia Commonwealth University Health System
Medical College of Virginia Hospitals
Genetics Program
P.O. Box 980033
Richmond, Virginia 23298
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
Fairfax Genetics & IVF Institute
Genetics Program
3020 Javier Road
Fairfax, Virginia 22031
The Virginia Genetics Advisory Committee, advised the Virginia Genetics Program on planning, implementing, and evaluation services related to maternal and child health.
Code of Virginia - For more information about the role of this advisory committee, please visit Search Code of Virginia for the following section:
Links to organizations found at this site are provided solely as a service to our users. These links do not constitute an endorsement of these organizations or their programs by the Virginia Department of Health, and none should be inferred. The Virginia Department of Health is not responsible for the content of the individual organization web pages found at these links.
Contact us at sharonk.williams@vdh.virginia.gov
Sharon Williams, R.N., M.S.
Virginia Genetics Program Manager
Virginia Department of Health
Division of Child and Adolescent Health
109 Governor Street, 8th Floor, Richmond, Virginia 23219
Phone: (804) 864-7712 FAX: (804) 864-7807
