Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California

Tang, Hao; Feuchtbaum, Lisa; Neogi, Partha; Ho, Thomson; Gaffney, L.; Currier, Robert

doi:10.1038/gim.2015.154

Cited by 12 publications

(8 citation statements)

References 24 publications

(23 reference statements)

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“…This is consistent with closer proximity to the post‐natal TSH surge and the four‐fold reduction in TSH concentration that occurs over the first few days of life . Similarly, the Californian screening programme recently reported a 10‐fold increase in false‐positive CH screens in samples collected between 12 and 23 hours as compared with their regular collection time of 24‐48 hours (false‐positive rate 0.1% vs 0.01%) …”

Section: Discussionsupporting

confidence: 65%

“…This is consistent with closer proximity to the post-natal TSH surge and the four-fold reduction in TSH concentration that occurs over the first few days of life 23,24. Similarly, the Californian screening programme recently reported a 10-fold increase in false-positive CH screens in samples collected between 12 and 23 hours as compared with their regular collection time of 24-48 hours (false-positive rate 0.1% vs 0.01%) 25. Determining the optimal time for collection of newborn screening samples requires consideration of the balance between changing levels of disease-specific markers after birth and consequent changes to screening sensitivity and specificity across a number of different disorders.…”

supporting

confidence: 65%

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The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening

Heather

Derraik

Webster

et al. 2019

Clinical Endocrinology

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Context Optimal newborn screening thyroid‐stimulating hormone (TSH) cut‐offs are contentious. Analysis of demographic factors that impact screen TSH levels may help explain international variance and provide guidance to screening programmes. Objective To determine the influence of demographic factors on newborn screening TSH levels and screening performance parameters. Design and Setting National, retrospective population study using blood spot TSH cards from the New Zealand newborn screening programme in 2010‐2015. Patients 325 685 blood spot cards. Main Outcome Measures Likelihood of exceeding specific TSH thresholds (TSH ≥5, ≥10 and ≥15 mIU/L) and group‐specific screening performance parameters. Results The likelihood of high TSH levels differed between ethnic groups. Pacific Island infants were more than twice as likely to have high‐normal TSH levels (≥5 and ≥10 mIU/L) and nearly twice as likely to have a positive screen (≥15 mIU/L) as New Zealand Europeans. Māori or Chinese ethnicity, male sex, younger gestational age and greater socio‐economic deprivation scores were also associated with high‐normal TSH levels. At a TSH threshold ≥15 mIU/L, screening sensitivity was lowest (88.89% vs 95.83% overall) and PPV greatest (88.89% vs 62.84%) amongst Asian infants. Early samples were more than three times as likely to reach the screen‐positive threshold and more likely to yield a false‐positive result (PPV 20.00% vs 68.87%, P = 0.004). Conclusions Newborn TSH levels are impacted by a number of demographic variables, particularly ethnicity and age at sample collection. Screening performance may be improved through the use of targeted thresholds.

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Section: Discussionsupporting

confidence: 65%

supporting

confidence: 65%

The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening

Heather

Derraik

Webster

et al. 2019

Clinical Endocrinology

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“…The panel includes conditions for which no suitable NBS analyte currently exists as a primary screening modality. We used a tNGS screening algorithm for Menkes disease on DNA extracted from DBS specimens and were able to assess for multiple mutation types in a single assay while fulfilling the rapid turnaround requirement for NBS [ 34 ]. The sensitivity of tNGS for ATP7A abnormalities was significantly increased by adding CNV detection capability since 12–20% of Menkes disease cases involve CNVs [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

Targeted next generation sequencing for newborn screening of Menkes disease

Parad

Kaler

Mauceli

et al. 2020

Molecular Genetics and Metabolism Reports

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Purpose Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms. We sought to assess the analytic validity of an ATP7A targeted next generation DNA sequencing assay as a potential newborn screen for one such disorder, Menkes disease. Methods Dried blood spots from control or Menkes disease subjects ( n = 22) were blindly analyzed for pathogenic variants in the copper transport gene, ATP7A. The analytical method was optimized to minimize cost and provide rapid turnaround time . Results The algorithm correctly identified pathogenic ATP7A variants, including missense, nonsense, small insertions/deletions, and large copy number variants, in 21/22 (95.5%) of subjects, one of whom had inconclusive diagnostic sequencing previously. For one false negative that also had not been detected by commercial molecular laboratories, we identified a deep intronic variant that impaired ATP7A mRNA splicing. Conclusions Our results support proof-of-concept that primary DNA-based NBS would accurately detect Menkes disease, a disorder that fulfills Wilson and Jungner screening criteria and for which biochemical NBS is unavailable. Targeted next generation sequencing for NBS would enable improved Menkes disease clinical outcomes, establish a platform for early identification of other unscreened disorders, and complement current NBS by providing immediate data for molecular confirmation of numerous biochemically screened condition.

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“…Birth weight instead of gestational age was used as a marker of prematurity, because gestational age is often not collected by state programs or may be inaccurate. Likewise, stratification by collection times, particularly before or after 24 h, is important to consider as state practices continue to push for earlier collection times [33].…”

Section: Discussionmentioning

confidence: 99%

Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia

Bialk¹,

Lasarev

Held

2019

IJNS

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Newborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during the first few days of life. To improve screening for CAH, Wisconsin developed a second-tier assay to quantify four different steroids (17-hydroxyprogesterone, 21-deoxycortisol, androstenedione, and cortisol) by liquid chromatography–tandem mass spectrometry (LC–MSMS) in dried blood spots. From validation studies which included the testing of confirmed CAH patients, Wisconsin established its own reporting algorithm that incorporates steroid concentrations as well as two different ratios—the birth weight and the collection time—to identify babies at risk for CAH. Using the newly developed method and algorithm, the false positive rate for the CAH screening was reduced by 95%. Patients with both classical forms of CAH, salt-wasting and simple virilizing, were identified. This study replicates and expands upon previous work to develop a second-tier LC–MSMS steroid profiling screening assay for CAH. The validation and prospective study results provide evidence for an extensive reporting algorithm that incorporates multiple steroids, birth weight, and collection times.

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Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California

Cited by 12 publications

References 24 publications

The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening

The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening

Targeted next generation sequencing for newborn screening of Menkes disease

Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia

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