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Advancing Children’s Health Through Newborn Screening

A clinician takes a heelstick blood sample from a newborn for phenylketonuria testing.

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, AACC held its first international workshop on the subject in 2017. For many years, AACC has also endorsed efforts to maintain and improve newborn screening programs in the U.S.

Workshop on Newborn Screening in India

AACC, in partnership with the Association of Clinical Biochemists of India, will hold 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 will describe 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 will present real-world cases from India and the U.S. The US Centers for Disease Control and Prevention (CDC) will present important elements of quality for developing a whole population screening program.

Workshop on Newborn Screening in Colombia

At a 2017 AACC workshop in Cali, Colombia, attendees listen to expert presentations on newborn screening in Latin America.On October 13, 2017, AACC 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.

AACC 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. AACC’s position statement details how healthcare stakeholders can make this and other enhancements to newborn screening programs a reality.

Additional Resources

From AACC

From Other Organizations

References

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