Newborn Screening is a public health program used to identify newborns at high risk for a number of genetic conditions—most of them rare. Generally, if these conditions are not detected within the first few days of life, there can be grave consequences for the child’s health, including mental retardation or death. As technology advances, so does the opportunity for screening for a range of conditions during the newborn period.

Baby’s First Test

Genetic Alliance received a cooperative agreement from the Genetics Services Branch of the Maternal and Child Health Bureau, HRSA/HHS to develop the nation’s first clearinghouse of newborn screening (NBS) information.

Although newborn screening has been available for nearly four decades, many parents are unaware of the specific conditions for which babies receive screening in their state, how screening takes place and who to contact for more information. Baby’s First Test serves as a comprehensive resource for many aspects of newborn screening, including conditions covered and what to do in case of a screen positive test result.

Consumer Focused Newborn Screening Projects

This project is supported through a cooperative agreement from the Genetic Services Branch of the Maternal Child Health Bureau/HRSA/DHHS. As newborn screening programs expand throughout the country, it is vital to understand the spectrum of consumer viewpoints. Genetic Alliance, in partnership with the University of Maryland School of Medicine and the Genetics and Public Policy Center, is looking at consumer perspectives on inherent issues in newborn screening.

Consumer Taskforce on Newborn Screening (CTF-NBS)

As part of the Consumer Focused Newborn Screening Project, a group of parents convene numerous times a year to discuss ways of getting more consumers involved in newborn screening. The CTF-NBS includes parents who are experienced in various aspects of the NBS system, in addition to those who are just starting to navigate these issues.

Storage and Use of Residual Dried Blood Spots

The storage and use of residual dried blood spots (DBS) from newborn screening provide the public health, research, and healthcare communities with an invaluable resource. DBS have distinct benefits for families and children and can facilitate improvements in newborn screening tests and procedures. They also allow states to understand the health issues impacting their populations better. Genetic Alliance is engaging the health community in an open, proactive dialogue on policy developments for DBS storage and use that builds on the successes of the NBS system and centers on communication and education of diverse stakeholders.

Legislation

Stay current on developing national legislation affecting newborn screening.

Newborn Screening Resources

Click here for a list of government, research, and advocacy groups focused on newborn screening.