Advancing Children’s Health Through Newborn Screening

In July 2023, we changed our name from AACC (short for the American Association for Clinical Chemistry) to the Association for Diagnostics & Laboratory Medicine (ADLM). The following page links to resources that were written prior to the rebranding and/or mentions events that took place prior to the rebranding and that contain mentions of the association’s old name.

Newborn screening plays a critical role in guaranteeing the health of children worldwide by detecting conditions that, if left untreated, could result in death or serious long-term mental and/or physical disabilities. Many countries already screen all newborns for phenylketonuria and hypothyroidism, and in certain more developed countries, routine screening panels include 20 or more conditions. In other parts of the world, however, newborn screening is just getting started, with some countries initiating nationwide screening only within the last several years (1).

To support the expansion of newborn screening around the globe, the Association for Diagnostics & Laboratory Medicine (formerly AACC) held its first international workshop on the subject in 2017. For many years, the Association for Diagnostics & Laboratory Medicine (ADLM) has also endorsed efforts to maintain and improve newborn screening programs in the U.S.

Symposium on Newborn Screening in Morocco

ADLM, in partnership with the African Federation of Clinical Chemistry (AFCC), held a symposium in Marrakesh, Morocco on September 26, 2019 titled, “Early diagnosis of biochemical genetic disorders saves children’s lives: A discussion on the merits and the process to successfully implement newborn screening.” The event was held in conjunction with the AFCC’s 6^th African Congress of Clinical Chemistry and Laboratory Medicine.

Experts in the field of biochemical genetics and newborn screening from the U.S. and Sub-Saharan and North African regions presented on the global position of newborn screening, clinical successes, and technical and practical aspects required for setting up a successful laboratory for newborn screening. The workshop presented cases from Morocco and the U.S. The U.S. Centers for Disease Control and Prevention (CDC) presented important elements of quality for developing a whole population screening program.

• View the workshop program.

Workshop on Newborn Screening in India

ADLM, in partnership with the Association of Clinical Biochemists of India, held a workshop in Goa, India on October 24, 2018 titled, “Early diagnosis of biochemical genetic disorders saves children’s lives: A discussion on the merits and the process to successfully implement newborn screening.”

Experts in the field of biochemical genetics and newborn screening from the U.S. and India described the global position of newborn screening, clinical successes, and technical and practical aspects required for setting up a successful laboratory for newborn screening. The workshop presented real-world cases from India and the U.S. The US Centers for Disease Control and Prevention (CDC) presented important elements of quality for developing a whole population screening program.

• View the workshop program and panelists’ bios.
• Newborn Screening Flyer

Workshop on Newborn Screening in Colombia

On October 13, 2017, ADLM hosted the workshop, “Early diagnosis of genetic disorders saves children’s lives: A discussion on merits and process to successfully implement newborn screening,” in Cali, Colombia. This workshop connected the newborn screening experts, policymakers, and other stakeholders involved in establishing Colombia’s nascent newborn screening program to discuss the successes and challenges of newborn screening for metabolic diseases in Latin America. The workshop featured presentations on the technical and practical elements of setting up a laboratory to perform newborn screening; talks by public health officials on the challenges of implementing newborn screening policy; and case studies from clinicians on the front lines.

The session, which drew more than 80 participants, was held in conjunction with the 2017 annual meeting of the Colegio Nacional de Bacteriología, a prominent Colombian scientific association.

• View the workshop program.
• View presentation slides from the workshop.

ADLM Position Statement on Newborn Screening in the U.S.

In the U.S. each year, more than 4 million babies undergo newborn screening, which enables more than 12,500 of these infants to receive life-saving treatments for congenital conditions. An even greater number of infants could benefit from newborn screening if additional conditions were included in screening panels. ADLM’s position statement details how healthcare stakeholders can make this and other enhancements to newborn screening programs a reality.

• Read ADLM’s position statement in English.
• Read ADLM’s position statement in Spanish.

Additional Resources

From ADLM

• Screening Tests for Newborns
• Facing the Challenges of Newborn Screening
• Spotlight on Newborn Screening
• Newborn Screening of Congenital Cytomegalovirus
• ADLM Supports Reauthorization of Newborn Screening Act
• Newborn Screening at a Crossroads
• Expanded Newborn Screening – the Academy of Diagnostics & Laboratory Medicine Laboratory Medicine Practice Guideline
• US Congressional Briefing Presentation on Newborn Screening

From Other Organizations

• CDC Newborn Screening Portal
• Advisory Committee on Heritable Disorders in Newborns and Children
• ARUP Laboratories Newborn Screening
• The Michael J. Palmieri Metabolic Disease Laboratory at The Children’s Hospital of Philadelphia
• Baby’s First Test for Health Professionals
• March of Dimes

References

1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872591/