Die Creatin-Kinase MM in der Perinatalperiode

Amato, Maurizio; Nagel, R.; Hüppi, PS

doi:10.1055/s-2007-1025460

Cited by 4 publications

(2 citation statements)

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“…38 Amato et al reported markedly elevated levels of CK-MM following vaginal delivery especially if complicated by forceps, vacuum, and breech presentation. 39 In the NYS study, several referred newborns had shoulder dystocia, shoulder dislocation, or were born by breech delivery. Shoulder dystocia was reported in 24% of referred newborns as compared to approximately 1-10% in the general population.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

Tavakoli

Gruber

Armstrong

et al. 2023

Ann Clin Transl Neurol

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ObjectiveDuchenne muscular dystrophy (DMD) is an X‐linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre‐symptomatic diagnosis.MethodsAt participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD. The first‐tier screen measured creatine kinase‐MM (CK‐MM) in dried blood spot specimens submitted for routine NBS. Newborns with elevated CK‐MM were referred for genetic counseling and genetic testing. The latter included deletion/duplication analysis and next‐generation sequencing (NGS) of the DMD gene followed by NGS for a panel of neuromuscular conditions if no pathogenic variants were detected in the DMD gene.ResultsIn the two‐year pilot study, 36,781 newborns were screened with CK‐MM. Forty‐two newborns (25 male and 17 female) were screen positive and referred for genetic testing. Deletions or duplications in the DMD gene were detected in four male infants consistent with DMD or Becker muscular dystrophy. One female DMD carrier was identified.InterpretationThis study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease.

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Section: Discussionmentioning

confidence: 99%

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

Tavakoli

Gruber

Armstrong

et al. 2023

Ann Clin Transl Neurol

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“…Indeed, recent studies have shown that transiently elevated CK-MM in the early newborn period could be a significant cause of false-positive NBS referrals. This is because, for most newborns, NBS DBSs are collected in the first 24 to 48 h of life when elevated CK-MM resulting from traumatic birth events (e.g., the use of forceps, vacuum extraction, fractures, or a nuchal cord) may still be returning to normal [ 23 ]. The level of CK-MM in blood at the time of typical NBS may therefore be indistinguishable among newborns with DMD and those recovering from birth trauma [ 21 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms

Potter,

Migliore,

Carter

et al. 2024

IJNS

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Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already mandated in multiple states, refining NBS algorithms is of utmost importance. NBS for DMD involves measuring creatine kinase-MM (CK-MM) concentration—a biomarker of muscle damage—in dried blood spots. The current test is FDA-approved for samples obtained less than 72 h after birth. Separate reference ranges are needed for samples collected later than 72 h after birth. In this study, we investigated the relationship between age and CK-MM in presumed healthy newborns to inform NBS algorithm designs. In patients with DMD, CK-MM is persistently elevated in childhood and adolescence, while it may be transiently elevated for other reasons in healthy newborns. CK-MM decrease over time was demonstrated by a population sample of 20,306 presumed healthy newborns tested between 0 and 60 days of life and repeat testing of 53 newborns on two separate days. In the population sample, CK-MM concentration was highest in the second 12 h period of life (median = 318 ng/mL) when only 57.6% of newborns tested below 360 ng/mL, the lowest previously published cutoff. By 72 h of age, median CK-MM concentration was 97 ng/mL, and 96.0% of infants had concentrations below 360 ng/mL. Between 72 h and 60 days, median CK-MM concentration ranged from 32 to 37 ng/mL. Establishing age-related cutoffs is crucial for optimizing the sensitivity and specificity of NBS for DMD.

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Neonatal Hypotonia

Miralles¹,

Panjwani²

2020

Emerging Topics and Controversies in Neonatology

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Die Creatin-Kinase MM in der Perinatalperiode

Cited by 4 publications

References 0 publications

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms

Neonatal Hypotonia

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