The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality

Abstract

Newborn screening is the largest genetic testing effort in the United States and is considered one of the ten great public health achievements during the first 10 years of the 21st century. For over 35 years, the Newborn Screening Quality Assurance Program (NSQAP) at the US Centers for Disease Control and Prevention has helped NBS laboratories ensure that their testing does not delay diagnosis, minimizes false-positive reports, and sustains high-quality testing performance. It is a multi-component program that provides comprehensive quality assurance services for dried blood spot testing. The NSQAP, the Biochemical Mass Spectrometry Laboratory (BMSL), the Molecular Quality Improvement Program (MQIP) and the Newborn Screening Translation Research Initiative (NSTRI), aid screening laboratories achieve technical proficiency and maintain confidence in their performance while processing large volumes of specimens daily. The accuracy of screening tests could be the difference between life and death for many babies; in other instances, identifying newborns with a disorder means that they can be treated and thus avoid life-long disability or severe cognitive impairment. Thousands of newborns and their families have benefited from reliable and accurate testing that has been accomplished by a network of screening laboratories and the NSQAP, BMSL, MQIP and NSTRI.

Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials

“…The Centers for Disease Control and Prevention (CDC) enhances quality and maintains accuracy of NBS through the Newborn Screening Quality Assurance Program (NSQAP). The NSQAP provides quality assurance (QA) services to participating laboratories, such as technical guidance and proficiency testing (PT) specimens that mimic metabolite concentrations of newborns with metabolic disorders [ 14 ]. These PT materials help laboratories meet QA testing accuracy verification requirements, and to assess their ability to correctly classify presumptive positive and normal samples during routine NBS [ 2 ].…”

Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing

“…CDC's Newborn Screening Quality Assurance Program (NSQAP), part of the Newborn Screening and Molecular Biology Branch (NSMBB), is mandated by Congress under the Newborn Screening Saves Lives Act to provide proficiency-testing (PT) and quality-assurance services for NBS laboratories [14]. For the molecular detection of CF, NSQAP provides a PT program to detect pathogenic variants in the CFTR gene that can result in CF [15,16].…”

National Program for External Quality Assessment of Chinese Newborn Screening Laboratories

“…The National Center for Clinical Laboratories (NCCL) has gradually launched EQA programs of neonatal screening for analytes since 1998, as the phenylalanine (Phe) and thyroid stimulating hormone (TSH) EQA samples were distributed, following by the first G6PD and 17-alpha-hydroxy progesterone (17-OHP) external quality survey in 2010 [ 4 ]. Moreover, the tandem mass spectrometry (MS/MS)-based EQA program was launched on NBS screening to measure amino acid and acylcarnitine by NCCL in 2013 [ 5 , 6 ], as MS/MS become the standard for the screening of disorders of fatty acid oxidation, amino acid metabolism, and organic acidurias [ 7 ].…”