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NBMS Site Map
LINKS FOR NEWBORN SCREENING TITLE DESCRIPTION Additional Diseases Disorders Included in the StepOneTM Newborn Screening Panel
Baby's First Test A newborn screening resource/website was recently released by the Genetic Alliance through funding from HRSA/MCHB. Sharing as informational.
In honor of Newborn Screening Awareness Month, Genetic Alliance recently launched a Health Resources and Services Administration, HHS funded, newborn screening resource, www.BabysFirstTest.org. The website is an objective resource for expecting and new parents to learn about newborn screening and is a place for families and health professionals to share their questions and experiences. Baby's First Test is a central site that brings together stakeholders and provides easy access to newborn screening resources from community groups, government agencies and public organizations. This resource also features condition specific information, state information, family videos, and a Community Corner section, where visitors can learn about reliable sources of information pertaining to maternal and child health.Congenital Heart Defects Congenital heart defects are conditions that are present at birth and can affect the structure of a baby’s heart and the way it works. They are the most common type of birth defect. As medical care and treatment have advanced, infants with congenital heart defects are living longer and healthier lives. Many now are living into adulthood. Congenital heart defects - Pulse oximetry screening for critical congenital heart defects in newborn infants: Should it be routine? Screening with pulse oximetry for critical congenital heart defects is the subject of much recent debate. This review will explore the recent evidence for screening and discuss how implementation of screening might be best achieved. Cost of Screening New Study Findings: How cost-effective is screening for critical congenital heart defects?
Cystic Fibrosis Foundation The mission of the Cystic Fibrosis Foundation, a nonprofit donor-supported organization, is to assure the development of the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease.
Disease Descriptions Save Babies Through Screening Foundation is a national nonprofit public charity run by volunteers. Its mission is to improve the lives of babies by working to prevent disabilities and early death resulting from disorders detectable through newborn screening. Without proper screening affected children will likely suffer mental retardation, physical disability or even death. Most affected children can lead normal, healthy lives when diagnosed and started on treatment early.
Guide to Pediatric Heart Murmurs In children, about half of all detectable heart murmurs are known as innocent murmurs, normal whooshing sounds made by turbulence in the cardiovascular system. Physiological changes, such as exercise, fever or anemia can increase blood flow and create a temporary, innocent murmur. To a physician, an innocent murmur makes a brief, musical and localized sound, whereas structural murmurs produce extended, harsh sounds.
Mid-Atlantic Region Guide This site has been developed to serve as a concise reference for primary care physicians and others involved in the management of patients following newborn screening. Its purpose is to provide information on the appropriate counseling for families, along with the correct methods of laboratory follow up for an abnormal newborn screening result. References are available that will provide additional information on the disorders and testing procedures required for a definitive diagnosis.
The National Taskforce for Newborn Screening and Genetic Resources Center (NNSGRC) The National Newborn Screening and Genetics Resource Center (NNSGRC) is a cooperative agreement between the Maternal and Child Health Bureau (MCHB), Genetic Services Branch and the University of Texas Health Science Center at San Antonio (UTHSCSA), Department of Pediatrics.
NCBDDD Science Alert
Summary
Key FindingsJournal of Pediatrics: “Current Estimate of Down Syndrome Population Prevalence in the United States.”
Office of Maternal, Child and Family Health (OMCFH) The mission of the Office of Maternal, Child and Family Health is to provide leadership to support state and community efforts to build systems of care that assure the health and well-being of all West Virginians.
Parent Information Fact Sheets The STAR-G Project has put together fact sheets about disorders commonly screened for by expanded newborn screening. The fact sheets were written specifically for families that have received an initial diagnosis of one of the disorders and want to know more general information. They address issues and answer questions that are of particular concern to parents Pediatric Genetics Genetics research studies how individual genes or groups of genes are involved in health and disease. Understanding genetic factors and genetic disorders is important in learning more about preventing birth defects, developmental disabilities, and other unique conditions among children. Some genetic changes have been associated with an increased risk of having a child with a birth defect or developmental disability. Genetics also can help us understand how birth defects and developmental disabilities happen.