Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention

Jesús, Víctor R. De; Mei, Joanne V.; Bell, Carol; Hannon, W. Harry

doi:10.1053/j.semperi.2009.12.003

Cited by 53 publications

(45 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Incomplete extraction of steroids from DBS is unlikely given that 17-OHP was generally higher when measured in DBS. Participation in the Centers for Disease Control and Prevention’s Newborn Screening Quality Assurance program for steroid analysis by LC-MS/MS in DBS reveals similar performance of the assay used here to those of other laboratories [19]. Nevertheless, steroid analysis in DBS cannot simply replace serum analysis until its robustness has been documented in larger comparative studies and DBS-specific reference ranges have been established.…”

Section: Discussionmentioning

confidence: 99%

Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Sarafoglou¹,

Himes

Lacey

et al. 2010

Horm Res Paediatr

View full text Add to dashboard Cite

Background/Aim: Periodic measurement of plasma concentrations of cortisol precursors on a clinic visit may be of limited value in patients with congenital adrenal hyperplasia because it does not reflect a patient’s circadian patterns of adrenal steroid secretion. Steroid profiling in dried blood spots (DBS) may allow for more frequent and sensitive monitoring. Methods: We compared the agreement between 17α-hydroxyprogesterone (17-OHP) and androstenedione (D4A) levels determined from DBS samples and concurrently collected serum samples. Blood was drawn from 9 congenital adrenal hyperplasia patients every 4 h over a 24-hour period. Serum and DBS steroid levels were measured by liquid chromatography tandem mass spectrometry. Results: DBS determinations of 17-OHP overestimated corresponding serum levels (mean difference 1.67 ng/ml), and underestimated D4A serum levels (mean difference 0.84 ng/ml). However, the DBS assay yielded excellent agreement (97%) with serum 17-OHP, but did considerably poorer for D4A (31%). Conclusions: Our results indicate an excellent agreement between DBS and serum 17-OHP measurements to identify the peaks and troughs associated with an individual’s circadian pattern. Larger-scale studies are required to evaluate the utility of DBS for home monitoring and to determine if more frequent monitoring leads to improved clinical outcomes.

show abstract

Section: Discussionmentioning

confidence: 99%

Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Sarafoglou¹,

Himes

Lacey

et al. 2010

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…Because of this, most countries have quality control systems for NBS, which helps to guarantee its performance. 20,34 Our findings highlight the need to implement comprehensive quality evaluation in the NBS programmes in Mexico.…”

Section: Discussionmentioning

confidence: 99%

Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico

et al. 2011

View full text Add to dashboard Cite

Objective To expose causes leading to the delayed arrival of phenylketonuria (PKU) patients at a governmental reference centre (RC), and to describe their clinical characteristics. Material and methods PKU files registered during the past 18 years at the National Institute of Pediatrics in Mexico City were evaluated. Patients were classified into two groups according to their age at arrival: Group I (early reference), patients arriving during the first month of life; and Group II (late reference), those who arrived after thirty days of age. Time and causes of delay were documented. Results Of 57 recorded files, 10 were classified in Group I and 47 in Group II. Causes leading to the late arrival of Group II patients were absence of routine newborn screening (NBS), PKU not included in the routine NBS, sampling after the recommended age, false negative result, results without interpretation and/or instructions to follow, delayed notification of results, poor medical criteria of attending physician, difficulties in obtaining confirmatory tests, and administrative failures. Conclusion The main cause of late referral of PKU patients was the absence of PKU testing. As a developing country, Mexico still faces challenges in the proper functioning and expansion of the NBS programme. Most PKU patients arrived at the RC late, presenting with varying degrees of the clinical spectrum. Incorporating PKU testing into the already established Mexican NBS system and adding quality indicators to guarantee proper operation in all NBS phases is necessary to achieve the goal of identifying, referring, diagnosing, and treating patients promptly.

show abstract

“…Second, it would be advantageous to multiplex the SMN1 assay with an existing routine NBS assay, thereby assuring its robustness and minimizing the incremental cost for detecting SMA. We therefore explored the possibility that SMN1 genotyping could be multiplexed with the TREC assay developed at CDC, which is used to characterize DBS reference materials for global distribution to participants in the CDC Newborn Screening Quality Assurance Program (25 ).…”

Section: Discussionmentioning

confidence: 99%

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

et al. 2015

View full text Add to dashboard Cite

BACKGROUND Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined immunodeficiency (SCID) has been implemented in public health laboratories in the last 5 years. SCID detection is based on real-time PCR assays to measure T-cell receptor excision circles (TREC), a byproduct of T-cell development. We modified a multiplexed real-time PCR TREC assay to simultaneously determine the presence or absence of the SMN1 gene from a dried blood spot (DBS) punch in a single reaction well. METHOD An SMN1 assay using a locked nucleic acid probe was initially developed with cell culture and umbilical cord blood (UCB) DNA extracts, and then integrated into the TREC assay. DBS punches were placed in 96-well arrays, washed, and amplified directly using reagents specific for TREC, a reference gene [ribonuclease P/MRP 30kDa subunit (RPP30)], and the SMN1 gene. The assay was tested on DBS made from UCB units and from peripheral blood samples of SMA-affected individuals and their family members. RESULTS DBS made from SMA-affected individuals showed no SMN1-specific amplification, whereas DBS made from all unaffected carriers and UCB showed SMN1 amplification above a well-defined threshold. TREC and RPP30 content in all DBS were within the age-adjusted expected range. CONCLUSIONS SMA caused by the absence of SMN1 can be detected from the same DBS punch used to screen newborns for SCID.

show abstract

Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention

Cited by 53 publications

References 23 publications

Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

Contact Info

Product

Resources

About