Maryland newborn screening programs

In the U. Efforts are underway to develop a national newborn screening program. New technologies have enabled substantial expansion of newborn screening programs. About 3, newborns test positive for one of these severe disorders. Since newborn screening is a state-operated program, each state differs slightly in which diseases are included in newborn screening programs depending on disease prevalence, detectability, treatment availability, outcome, and overall cost effectiveness.

Typically, each state has an advisory committee that reviews and selects which diseases are screened for based on current scientific and clinical data.

Increasingly, tandem mass spectrometry is being used for newborn screening of up to 50 additional metabolic disorders from dried blood-spot specimens. A recent report commissioned by the US Health Resources and Services Administration recommended uniform screening for 29 genetic diseases. Efforts are underway to examine the feasibility of instituting uniform newborn screening policies. Since , the mission of the District of Columbia Newborn Screening Program is to detect, diagnose, and treat every newborn baby who tests positive for certain inherited genetic disorders.

This program can mean the difference between life and death for a newborn. It can also prevent life-threatening complications and serious chronic consequences such as mental retardation, developmental disability, liver disease, blindness, neurological degeneration, malnutrition, and death.

The vision of the Newborn Metabolic Screening Program in the District of Columbia is that all newborns are screened for metabolic disorders prior to hospital discharge. The overall goal of the Program is to ensure that every infant born in the District is screened for 40 inherited genetic disorders and that infants identified with abnormal screening results receive timely and appropriate follow-up, to treat inherited diseases before the onset of clinical symptoms.

Final rulemaking to amend DC Law was published and made effective on November 4, The amendment expands the current panel of newborn screening disorders in the District of Columbia from seven to 40 disorders. The expanded panel includes screens for inherited hemoglobinopathies and 39 metabolic disorders.

Every infant born in a District of Columbia hospital and birthing center will be screened for the following disorders. See the consumer fact sheet on newborn screening for a brief description of the diseases. Every live born infant shall have an adequate blood test for all disorders defined in the District of Columbia Newborn Screening Requirement Act upon informed consent by the parent.

The initial screening is to be done in the hospital and may be repeated, as necessary, prior to discharge. If the infant born in a hospital or birthing center is discharged before 48 hours after birth, a blood specimen shall be collected prior to discharge.

In this case, the newborn must be tested again prior to one week of age. The hospital or birthing center should provide written notice of this requirement to the parents, guardian, or other legally responsible person. Each specimen is forwarded to a single laboratory designated by the Mayor, in accordance with the DC Newborn Screening Law.

The blood sample and the required patient information must be sent to the approved laboratory on the day of collection for an adequate test. The laboratory performing blood tests for the purpose of satisfying legal requirements for testing newborns shall report all such test results to the hospital where the birth occurred.

CSHCN refers critical infants to specialists within the District of Columbia that offer evaluation, treatment and counseling services. Specialty centers for endocrinology, hematology, and medical genetics are located throughout the District of Columbia. All infants born in the District of Columbia are required by law to be screened at birth for hearing loss.

The DC Hears program works for early detection of hearing loss and provides services for all children from birth to five years of age who have been diagnosed with hearing loss or deafness, regardless of their level of income.

DC Hears provides free hearing screening and loaner amplification to all DC children in need of services. If hearing loss is not discovered early, the child could experience delays in speech, language, emotional, and educational development. A baby may be given one or both of these tests. This test measures how the brain responds to sounds. Typically, testing is done when the baby is asleep and not aware of the testing.

Results are available immediately after testing. However, some babies with a family history of hearing loss, repeated ear infections, or serious illness may develop hearing loss later. Not passing the hearing screening indicates that the baby should have a second hearing test. The second screening should occur while the baby is still in the hospital or within two weeks after leaving the hospital. If the baby does not pass the initial hearing screening, it does not mean that the baby has permanent hearing loss since most babies pass the second screening.

Often babies can have fluid, blockage, or debris in the ear that clears up on its own. Treatment will depend on the type and degree of hearing loss. If hearing loss is permanent, hearing aids or special services may be recommended.

Infants can be fitted with a hearing aid as young as one month of age. Newborn screening is offered to families with new babies as a service through the Virginia Department of Health. 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.

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. 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. 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. The Code of Virginia requires that all hospitals with newborn nurseries and all hospitals with neonatal intensive care services will screen the hearing of all newborns prior to discharge and report to the Virginia Department of Health.

Persons who provide audiological services are required to: 1 report children who are at risk for hearing loss, children who fail to pass a hearing screening, and children identified with hearing loss to the Virginia Department of Health; and, 2 to give parents information about hearing loss, including choices about learning communication, and to refer them to local early intervention services.

Design, function, and structure can vary. A state rare disease legislative caucus is a collective group of state legislators which meet to pursue common rare disease legislative objectives. Caucuses can have a bipartisan and bicameral structure.

Functions can include moving legislation, securing funding, and considering policies that affect the rare disease community. Rare disease advisory council is a collective group of stakeholders from across the state who act as an informed advisory committee. Their functions can include advise and coordinate efforts to study and collect data on incidence of rare disease in state, raise public awareness on rare diseases in the state through publications, identify best practices for rare disease diagnosis and treatment, and advise specific state healthcare related boards.

The structure and duties vary widely between states. Newborn Screening — Maryland. Number Screened. Number Missing. Conditions Missing.

Advisory Council. DBS Storage Years. Funding Mechanisms. Annual Births. Estimated Diagnoses. Laboratory Facilities. Screen Fees Explained Newborn screening fees covers the costs of the administrative, laboratory, and follow-up services associated with the completion of newborn screening tests. About Us The EveryLife Foundation for Rare Diseases is a c 3 nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.

Newsletter Signup. In , Newborn Metabolic Screening using dried blood spots was started to determine if babies have a condition called Phenylketonuria or PKU for short. PKU is a metabolic disorder that causes major developmental delays if too much protein is eaten. Since , over babies in Maryland have been identified with a form of PKU.

These conditions include:. Inability to break down the sugar in breast milk and most formulas. Inability to break down different proteins.

Inability to break down different fats for energy. Inability to fight infections severe combined immunodeficiency disorders.