Improving Disease Detection in Newborns

Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.  CDC provides funding and expertise to state public health laboratories who conduct newborn screening.  This funding can improve the detection of newborn conditions. The funding allows states to purchase specialized equipment and train staff so they can screen for more conditions and apply new technologies.

Building Capacity in State Public Health Laboratories

CDC’s Newborn Screening and Molecular Biology Branch in the Division of Laboratory Sciences funds pilot projects and cooperative agreements. Funded programs receive focused consultation, testing materials, training, and technical assistance.

In addition, CDC activities in support of all newborn screening programs — funded and not funded — include the following:

  • Facilitating communication across newborn screening programs
  • Assisting in designing, developing, and evaluating laboratory methods and training for newborn screening programs
  • Improving the quality of existing and emerging newborn screening laboratory methods
  • Providing technical expertise and technology transfer for new methods
  • Offering quality assurance materials through the Newborn Screening Quality Assurance Program
  • Supporting harmonization of newborn screening laboratory data across laboratories using CDC quality control reference materials
  • Aiding in the development of training materials on laboratory methods, evaluations, risk communication, and other topics for state public health newborn screening programs

Funded State Newborn Screening Programs

The map below shows CDC’s current and previous award recipients. Learn about funded state programs below.

image/svg+xml AK AL AR AZ CA CO FL GA HI IA ID IL IN KS KY LA ME MI MN MO MS MT NC ND NE NM NV NY OH OK OR PA SC SD TN TX UT VA WA WI WV WY MD DE NJ CT RI MA NH VT 2020-2022 Funding Previous Recipients 2022-2024 Recipients

Enhancing Disease Detection in Newborns: Building Capacity in Public Health Laboratories

CDC is supporting its second funding cycle of “Enhancing Disease Detection in Newborns: Building Capacity in Public Health Laboratories.” Under these funding opportunities, states adopted one or more of three strategies to build capacity and enhance public health newborn screening:

  1. Build newborn screening laboratory capacity to screen for new Recommended Uniform Screening Panel (RUSP) conditions: Pompe Disease, Mucopolysaccharidosis Type 1 (MPS-1), X-linked Adrenoleukodystrophy (X-ALD), and Spinal Muscular Atrophy (SMA).
  2. Enhance newborn screening performance on dried blood spots to improve disease detection for current RUSP conditions.
  3. Improve state laboratories’ ability to interpret newborn screening test results on dried blood spots by increasing the use of computer science to manage and analyze complex data.

RFA-EH-22-2201

Award Period: 2022-2024

Five states are receiving funding under the current cooperative agreement. For information about funding activities by state, see below.

RFA-EH-20-2004

Award Period: 2020-2022

Five states received funding under the previous funding opportunity. For information about funding activities by state, see below.

Newborn Screening New Condition Implementation: Capacity Building and Quality Improvement through Data Harmonization (RFA-EH-18-1804)

Award Period: 2018-2020

CDC funded seven newborn screening laboratories to add the following conditions recommended by the Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (HHS ACHDNC):

  • Pompe Disease
  • Mucopolysaccharidosis Type 1
  • X-linked Adrenoleukodystrophy
  • Spinal Muscular Atrophy

These awards increased the number of laboratory scientists with knowledge and skills to perform newborn screening for new conditions. In addition, the awards increased the number of newborns screened for conditions and added data harmonization to newborn screening quality improvement. Harmonization gathers data in different formats and naming conventions and transforms them into a cohesive data set that newborn screening laboratories can use to evaluate their testing performance.

For more information about how states used awarded funds and state-specific accomplishments, see below.

Funding for Severe Combined Immunodeficiency (SCID) Implementation

Award Period: 2008-2017

Over a 10-year period, CDC supported laboratory method development and pilot studies to establish the feasibility of a severe combined immunodeficiency (SCID) newborn screening test in a state public health laboratory. Babies born with SCID appear healthy at birth but are unable to fight infection. If SCID is diagnosed early in life, before the onset of infection, a bone marrow transplant can successfully treat the disorder.  The success of the pilot studies ensured that SCID screening tests were ready for nationwide use.  It also served as a model for other states to implement population-based screening and provided evidence to support the addition of SCID to the RUSP. CDC provided funding to states to help them add SCID to their state newborn screening panels. Awardees included the following states:

  • Florida, Illinois, New Jersey, North Carolina, Texas (2017)
  • Louisiana, Nevada, and North Carolina (2015)
  • Georgia, Virginia, and Oklahoma (2013)
  • Michigan and Minnesota (2011)
  • Wisconsin and Massachusetts (2008)

In 2015, CDC funded New York to develop advanced laboratory screening techniques and quality assurance materials that improved the detection of SCID.