Neonatal cystic fibrosis screening: Analysis and differences in immunoreactive trypsin levels in newborns with a positive screen

Arrudi-Moreno, Marta; García-Romero, Ruth; Samper-Villagrasa, Pilar; Sánchez-Malo, María José; Martin-de-Vicente, Carlos

doi:10.1016/j.anpede.2020.04.022

Cited by 6 publications

(4 citation statements)

References 20 publications

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“…The differences could be due to the variation in the immunoassay principle or ethnic variation, or other factors that need to be looked into with a more robust study design. Besides, the nIRT values change remarkably with the days of birth, demographic profile, exposure and storage environment, the season of birth, and many more [10,27,28]. Hence, the cutoff value for nIRT needs to be further verified.…”

Section: Discussionmentioning

confidence: 99%

“…The cutoff value computed in our study population at 1.0th percentile was 2.18 U/gHb (Figure2F), equivalent to the cutoff levels reported byKaur et al study and close enough to Fu et al and Miao et al study.Sadik et al study fixed the 99th percentile value of 61 ng/mL (1 ng/mL = 1 µg/L) as the cutoff limit for nIRT[10]. Arrudi-Moreno et al study on 790 newborns positive for CF estimated a cutoff reference as 76.2 ng/mL[27]. The mean nIRT value was 75.66 (median: 70.12; range: 60-270) ng/mL in healthy full-term newborns, whereas 175.82 (66-368) ng/mL for the CF confirmed cases.…”

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confidence: 99%

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An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study

Patel,

Verma,

Padhi

et al. 2023

Cureus

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BackgroundUnless a cutoff level of the parameters of newborn screening (NBS) is defined, a screening test's results would end in high recall rates and apprehensive parents. The study aimed to establish a cutoff level of the healthy term newborns. Materials and methodsThe study was a retrospective observational data analysis on a cohort of 1158 term newborns who underwent NBS in our institute. The percentile distribution of the NBS parameters was computed and the 99th percentile value was considered the new cutoff. For lower values, such as neonatal glucose 6-phosphate dehydrogenase (nG6PD) and neonatal biotinidase (nBIOT), low percentile values were regarded as new cutoff value. ResultsNeonatal thyroid stimulating hormone (nTSH), nG6PD, neonatal immunoreactive trypsinogen (nIRT), and nBIOT showed a wide variation in the distribution. Most newborns had neonatal galactose (nGAL), nIRT, and nBIOT values above the median. The 99th percentile value of nTSH was 14.5 mIU/L, and that of neonatal 17hydroxyprogesterone (n17-OHP) was 43.7 nmol/L. The 1.0th percentile value for nG6PD was decreased to 2.18 IU/gHb. The new cutoff values for nBIOT, nIRT, neonatal phenylketonuria (nPKU) and nGAL were 48.59 U, 95.3 µg/L, 2.3 mg/dL and 15.9 mg/dL. The mean and median nTSH values did not significantly differ (p=0.99) in the first five days of birth. On the contrary, the study population depicted considerably raised levels of n17-OHP on day 3, followed by a sharp decrease (p=0.029). Similarly, nIRT displayed significant differences in the first five days (p=0.017). ConclusionUsing the 99th percentile values of the NBS parameters as the new cutoff levels might be beneficial in terms of the recall rates and cost burden.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study

Patel,

Verma,

Padhi

et al. 2023

Cureus

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“…In some studies patients were screened for CF using sweat lactate. Furthermore, some medical centers use sweat to diagnose drug addiction and predict peripheral neuropathy occurrence in patients with diabetes [ 52 , 53 ]. Sweat is also used to diagnose mental health conditions that cannot be diagnosed using laboratory analysis or auxiliary tests.…”

Section: Potential Medical Application Of Sweat Lactatementioning

confidence: 99%

Monitor for lactate in perspiration

Luo

Sun

et al. 2021

J Physiol Sci

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Sweat is a noninvasive biological fluid on the surface of human skin and has attracted increasing attention as a diagnostic specimen for disease and biomarker detection. Sweat metabolite quantification is possible due to progress in sweat analysis techniques; nevertheless, the role of sweat monitoring in energy metabolism, physiological or pathological state assessment, health status assessment, and the development and outcome of metabolism-related diseases remains unclear. This review provides a comprehensive overview of the literature on human sweat lactate concentration. The first, second, and third sections of this review present an introduction of sweat lactate, methods for the collection and storage of sweat lactate samples, and methods of detection and analysis of sweat lactate, respectively. The fourth section elaborates upon the current state of clinical application of sweat lactate monitoring and its prospects for health surveillance. The last section focuses on the challenges and future directions of this novel technology for detecting lactate in sweat.

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“…As a result of the variations in NBS across the country, several reports since 2020 have reviewed the history and status of various regional screening successes: 50 years of NBS in Catalonia [1003]; 20 years of NBS in Galicia [1004]; 10 years of NBS in Western Andalusia [1005]; 15 years of NBS for SCD in Madrid [1006]; 3 years of NBS for SCD in Western Andalusia [1007]; screening for propionic, methylmalonic acidemia and vitamin B 12 deficiency in Madrid [1008]; 3 years' experience in NBS for SCID in Catalonia [1009,1010]; 8 years' experience with expanded NBS in Madrid [1011]; evaluation of positive cases from NBS in Madrid [1012]; CAH screening in Madrid [1013]; CH cutoff values in the Balearic Islands [1014]; the role of public health in NBS success in the Basque Country [1015]; and, an improved specimen transport system in Catalonia [1016]. Reports have also addressed issues related to second-tier testing to detect cobalamin (vitamin B 12 )-related disorders, both genetic and acquired [1017], differences in IRT levels between the different groups of newborns with a positive screen (healthy, healthy carriers, affected by CF or CFSPID) [1018], and the potential usefulness of NBS in detecting cystinuria [1019].…”

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confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Neonatal cystic fibrosis screening: Analysis and differences in immunoreactive trypsin levels in newborns with a positive screen

Cited by 6 publications

References 20 publications

An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study

An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study

Monitor for lactate in perspiration

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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