Newborn Screening Programs in Virginia
From WikiGenetics
The Pediatric Screening and Genetics Services, a unit within the Division of Child and Adolescent Health, Virginia Department of Health administers the Virginia Genetics Program and the Virginia Early Hearing and Intervention Program. Newborn screening is offered to families with new babies as a service through the Virginia Department of Health.
[edit] Disorders Screened
All infants less than six months of age who are born in Virginia are currently screened for a number of genetic disorders. Any infant whose parent or guardian objects on the grounds that the tests conflict with his religious practices or tenets will not be required to receive screening.
Effective March 2006, the number of genetic diseases screened is 28, utilizing both traditional laboratory and tandem mass spectrometry (MS/MS) methods.
- 3-hydroxy 3-methyl glutaric aciduria (HMG)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- Argininosuccinic acidemia (ASA)
- Beta-Ketothiolase deficiency (ßKT)
- Biotinidase deficiency (BIOT)
- Carnitine uptake defect (CUD)
- Citrullinemia (CIT)
- Congenital adrenal hyperplasia (CAH)
- Congenital hypothyroidism (CH)
- Cystic fibrosis (CF)
- Galactosemia (GALT)
- Glutaric acidemia type I (GA I)
- Hemoglobin Sickle/Beta-thalassemia (Hb S/ßTh)
- Hemoglobin Sickle/C disease (Hb S/C)
- Homocystinuria (HCY)
- Isovaleric acidemia (IVA)
- Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Maple syrup urine disease (MSUD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Methylmalonic acidemia (mutase deficiency) (MUT)
- Methylmalonic acidemia (Cbl A, B)
- Multiple carboxylase deficiency (MCD)
- Phenylketonuria (PKU)
- Propionic acidemia (PROP)
- Sickle cell anemia (Hb SS disease)
- Trifunctional protein deficiency
- Tyrosinemia type I (TYR I);
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
[edit] Procedures and Follow-up
The initial screening tests are performed by the Virginia Department of General Services, Division of Consolidated Laboratories Services (DCLS). Currently, it takes three days to process and complete screening on a routine sample. DCLS also performs repeat tests on infants up to six months of age. A second routine newborn screening test is not mandated in Virginia because it is costly and has not been shown to yield an increase in the number of cases. A second screen is required only when an abnormal test result occurs or when a sample has been collected when the infant is less than 24 hours of age.
Results are mailed back to the submitter (usually the hospital of birth) and the primary health care provider listed on the filter paper device for all newborn screening tests. In addition, the health care provider/physician listed on the filter paper device is also notified by telephone within 24 hours regarding all critically abnormal results.
Questions regarding the interpretation of results should be directed to the Virginia Department of General Services, DCLS, Newborn Screening Section at (804) 648-4480 ext. 170. Questions regarding procedures for follow-up should be directed to the Newborn Screening Nurse, Pediatric Screening and Genetic Services, Division of Child and Adolescent Health, Virginia Department of Health at (804) 864-7714 or (804) 864-7715.
The Virginia Department of Health has retained the services of metabolic, medical and endocrinology consultants to provide assistance with test interpretation, diagnostic testing, and treatment of affected infants. 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 386
- Charlottesville, Virginia 22908
Fairfax Genetics & IVF Institute
- Genetics Program
- 3020 Javier Road
- Fairfax, Virginia 22031
In addition, two 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. The health-care providers offer physician and nutrition consultation.
University of Virginia
- Division of Medical Genetics
- Department of Pediatrics
- www@virginia.edu
Virginia Commonwealth University
- Medical College of Virginia Campus
- School of Medicine
- Department of Pediatrics
- lduncan@hsc.vcu.edu
For more information on the Virginia Newborn Screening Program, see
http://www.vahealth.org/genetics/servgp.htm#newbornscreening.
In addition, providers should consult the following web-site for answers to frequently asked questions: http://www.vahealth.org/genetics/Newborn%20Screening%20Facts_404.pdf.
[edit] Reference
Genetic Alliance. 2007. Understanding Genetics: A Guide for Patients and Healt Care Professionals. http://www.geneticalliance.org/ws_display.asp?filter=pubs.understanding.genetics
