Maryland Newborn Screening Information

Maryland

Disorders Screened in Maryland
Maryland does NOT provide the full panel of screenings recommended by Save Babies Through Screening Foundation. Parents should seek supplemental screening for the disorders and conditions not included in the state's panel.

The disorders that are screened, or likely to be detected, by your state's program are identified by the National Newborn Screening and Genetics Resource Center in simplified format or in PDF format.

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General Information
Newborn Screening is voluntary in Maryland and requires informed consent. The law requires that screening be offered, but parents may refuse screening for any reason. However, very few families (fewer than 10 a year) refuse screening, usually citing religious reasons.

The Maryland State Public Laboratory's Newborn Screening Laboratory obtained 2 tandem mass spectrometers, trained staff and gradually phased in new disorders as experience was gained. Screening for the current profile of disorders was initiated on November 1, 2003 . Both the amino acid profile and the acyl carnitine profile are used. All abnormal results are followed up, even if they do not correspond to the profile to be expected in any one of the specified disorders. Additional disorders will be considered by the Advisory Council as they are delineated.

The Office for Genetics and Children with Special Health Care Needs (OGCSHCN) in Maryland 's Department of Health and Mental Hygiene (DHMH) conducts the follow up for abnormal newborn screening tests. The OGCSHCN also handles follow up for abnormal results identified by PerkinElmer Genetics, Inc. (formerly PerkinElmer Genetics, Inc., Inc.) for Maryland residents, in accordance with the Pediatrix permission slip which states that the results of tests will be shared with the OGCSHCN. Some Maryland hospitals contract with PerkinElmer Genetics.

The OGCSHCN physician is board certified by the American Board of Medical Genetics and the American Board of Pediatrics. Follow up includes the services of two highly specialized nurses. For those patients who require dietary therapy, the OGCSHCN provides long term nutrition management (free) by two expert nutritionists. Also, the OGCSHCN gives partial support for four designated Metabolic Centers and Hematology Centers in the state. Maryland law mandates insurance coverage of metabolic formulas and low protein modified food products.

Maryland has approximately 70,000 births each year.

The Maryland Newborn Screening Program follows a 6-day work-week to improve turnaround time.

Newborn Screening Advisory Committee
Maryland has a Newborn Screening Advisory Committee (NBSAC). It is the Maryland Advisory Council on Hereditary and Congenital Disorders.

Maryland NBSAC Chairperson & Staff
Maryland Advisory Council on Hereditary and Congenital Disorders

Chairperson
Ada Hamosh, M.D., M.P.H.
Associate Professor, Pediatrics
Institute of Genetic Medicine
Johns Hopkins University School of Medicine
E-mail: Ada Hamosh, M.D., M.P.H.
Phone: 410-614-3313

Staff
Judy Wilson
Department of Health and Mental Hygiene
Family Health Administration
201 W. Preston Street, Room 306
Baltimore MD 21201
Email: Judy Wilson
Phone: 410-767-5046
Fax: 410-333-7106

NBSAC Meeting Dates
Meetings are held monthly except July, August, and December, with special meetings and sub- committee meetings, as needed.

Location of Meetings
Meetings are held at 6 P.M. in the Lobby Conference Room at the
Department of Health and Mental Hygiene
201 West Preston Street, Baltimore, MD 21201.

Meeting dates can be obtained from Judy Wilson
(contact information above).

More Information and Support Resources

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Revised 5/19/08