Resources

Care Coordination
Care coordination is a needs driven, team‐based process that values families as essential partners. Care coordination is intended to integrate care among multiple service providers, enhance the caregiving ability of the family, and maximize the potential of the child.
Critical Congenital Heart Disease (CCHD)
Congenital heart defects are the most common group of birth defects, affecting 9 in 1000 newborns. CCHD are those requiring surgery or catheter intervention in the first month of life. CCHD remains as one of the most significant causes of infant death in the United States.
Genetics
A term that refers to the study of genes and their roles in inheritance ‐ in other words, the way that certain traits or conditions are passed down from one generation to another. Genetics involves scientific studies of genes and their effects.
Genes
Are units of heredity that carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (CF), Huntington’s disease (HD), and phenylketonuria (PKU).
Hemoglobinopathies
A genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Common hemoglobinopathies include sickle‐cell disease (SCD). Thalassemias, in contrast, usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some hemoglobinopathies are also thalassemias, but most are not.
Health Resources and Services Administration (HRSA)
HRSA is an agency of the U.S. Department of Health and Human Services, is the primary Federal agency for improving access to health care services for people who are uninsured, isolated or medically vulnerable.
Long‐term follow‐up (LTFU)
The process of continued contact and ensuring that the medical needs of patients identified through newborn screening (NBS) are met over an extended period of time, beyond the first few months after diagnosis.
Medical Home
An approach to providing comprehensive primary care. It is not a building, house, hospital, or home healthcare service. In a family‐centered medical home, the pediatric care team works in partnership with a child and a child’s family to assure that all of the medical and nonmedical needs of the patient are met. Through this partnership the pediatric care team can help the family/patient access, coordinate, and understand specialty care, educational services, out‐of‐home care, family support, and other public and private community services that are important for the overall health of the child and family.
Recommended Uniform Screening Panel (RUSP)
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) provides national recommendations on newborn screening. These recommendations are reviewed by the Secretary of Health and Human Services. Currently, this committee recommends a screening panel of 30 core conditions and reporting of ~30 secondary conditions. States use this uniform panel to inform their screening programs, but it is not enforced by law. Ultimately, the states still establish their own panels.
Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC)
Works to reduce morbidity and mortality in newborns and children who have or are at risk for heritable disorders, such as SCD, CF and hearing impairment. The committee advises the Secretary, U.S. Department of Health and Human Services on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards.
AAP
American Academy Of Pediatrics
ACA
Affordable Care Act
CCHD
Critical Congenital Heart Defects
CF
Cystic Fibrosis
CH
Congenital Hypothyroidism
CYSHCN
Children & Youth With Special Health Care Needs
DACHDNC
Discretionary Advisory Committee On Heritable Disorders In Newborns And Children
HD
Huntington’s Disease
HRSA
Health Resources And Services Administration
IBEM
Inborn Errors Of Metabolism
LTFU
Long Term Follow Up
NBS
Newborn Screening
NCC
National Coordinating Center For The Regional Genetic Service Collaboratives
R4
Region 4 Midwest Genetics Collaborative
SCD
Sickle Cell Disease