Mayo Clinic Laboratories > Pediatrics > Newborn screening

Newborn screening

Early intervention for healthy development

Newborn screening is intended to detect serious health conditions in babies for which early intervention can greatly improve healthy development and positive outcomes. Each year, more than four million newborns in the United States are screened for congenital disorders. Of these newborns, 12,500 per year are diagnosed with one of the 34 core conditions detected through screening. These conditions, when left untreated, can result in severe physical and neurological impairment or even death.

In the U.S., recommendations for newborn screening are developed by the Secretary of Health and Human Services. These recommendations are known as the Recommended Uniform Screening Panel (RUSP). The RUSP is constantly in flux as newly discovered treatments or emerging laboratory technologies enable additional recommendations, with two new conditions recommended in 2016.

737,000+

737,000+ newborn screening tests performed

471

471 true positive cases diagnosed

70

70 detectable disorders

Decision support using CLIR

CLIR software creates and maintains an integrated database of clinical and laboratory data, which is used to produce on-demand, post-analytical tools. Our CLIR database consists of laboratory data from thousands of true positive cases submitted by participating collaborators worldwide. Rather than relying on a standard cutoff value, these tools merge the analysis of multiple analytes, each ranked according to clinical significance, into a single score that measures the likelihood of disease.

Second-tier testing for confirmation

Second-tier tests employ more sensitive methodologies that may not be suitable as a primary, high-throughput screening test. These tests are performed on the original newborn screening specimen when the primary screening assay yields abnormal results. This approach requires no additional patient contact and significantly increases the positive predictive value of the screening.

Access to Mayo Clinic expertise

The Mayo Clinic Biochemical Genetics Laboratory is an interdisciplinary group of physicians, scientists, genetic counselors, and laboratory professionals that includes six laboratory directors and four genetic counselors specializing in newborn screening and diagnostic testing for inborn errors of metabolism. This team provides testing and result interpretation of the highest quality for the diagnosis and clinical care of patients with metabolic disorders.

News and updates

The latest

Second-Tier Assay for MPS I Newborn Screening Shows Remarkable Reduction of False Positives

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).

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Second-Tier Assay for MPS I Newborn Screening Shows Remarkable Reduction of False Positives

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).

Updated Test Promises Fewer False Positives in Newborn Screening for Krabbe Disease

Mayo Clinic’s Biochemical Genetics Laboratory has announced an updated second-tier test to detect Krabbe disease (KD) that uses psychosine (PSY) as a disease marker. The new test method has significantly higher sensitivity to detect this devastating disease in infants and allows identification of KD patients with minimal psychosine elevations.

Newborn Screen Follow-up for Severe Combined Immunodeficiency Syndrome (SCID) [Algorithm]

The algorithm can be viewed here.

The Metabolic Autopsy: Postmortem Screening in Cases of Sudden, Unexpected Death

In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.

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