Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.

Int J Neonatal Screen

National Newborn Screening Laboratory, LabPlus, Health New Zealand Te Whatu Ora, Auckland 1023, New Zealand.

Published: July 2024

A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found on bloodspot screening panels. Operational definitions for target disorders and incidental findings were developed and applied to disorder lists. A gap analysis was performed between five, state-based Australian newborn screening programme disorder lists and the single national New Zealand and state-level Californian versions. Screening panels were found to be broadly similar. Gap analysis with Californian data reflected differences in jurisdictional approval (for example, haemoglobinopathies and lysosomal disorders not being recommended in Australasia). Differences amongst Australasian panels reflected varied the timeframes recommended in order to implement newly approved disorders, as well as decisions to remove previously screened disorders. A harmonised approach to disorder counting is essential to performing valid comparisons of newborn bloodspot screening panels.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270160PMC
http://dx.doi.org/10.3390/ijns10030047DOI Listing

Publication Analysis

Top Keywords

screening panels
16
bloodspot screening
12
newborn bloodspot
8
disorder lists
8
gap analysis
8
screening
6
panels
5
counting conditions
4
conditions newborn
4
panels australia
4

Similar Publications

Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.

View Article and Find Full Text PDF

Unlabelled: The aim of this study was to identify parameters influencing DNA extraction and PCR amplification efficiencies in an attempt to standardize Mucorales qPCR. The Fungal PCR Initiative Mucorales Laboratory Working Group distributed two panels of simulated samples to 26 laboratories: Panel A (six sera spiked with Mucorales DNA and one negative control serum) and Panel B (six Mucorales DNA extracts). Panel A underwent DNA extraction in each laboratory according to the local procedure and were sent to a central laboratory for testing using three different qPCR techniques: one in-house qPCR assay and two commercial assays (MucorGenius and Fungiplex).

View Article and Find Full Text PDF

Introduction: This study aimed to evaluate the imaging findings of the chest flat panel detector computed tomography (FDCT) among coronavirus disease-2019 (COVID-19) positive patients during urgent/emergent interventional neuroradiologic procedures.

Materials And Methods: Chest FDCT examinations were performed using a C-arm mounted FDCT within the interventional radiology (IR) suite if the reverse transcription polymerase chain reaction (RT-PCR) results were pending in patients with clinical findings suggestive of COVID-19. In those who already had positive RT-PCR results, FDCT was performed for acute evaluation only if an acute unexpected cardiopulmonary event occurred during the procedure.

View Article and Find Full Text PDF

[Rapid Diagnosis of Central Nervous System Infections by Multiplex PCR Assay and the Viral Etiology in Children].

Mikrobiyol Bul

October 2024

University of Health Sciences, Dr. Behçet Uz Pediatric Diseases and Surgery Training and Research Hospital, Clinic of Pediatric Infectious Diseases, İzmir, Türkiye.

Central nervous system infections (CNS) are life-threatening infections in children, requiring urgent intervention and rapid diagnosis. In this study, we aimed to investigate the efficacy of syndromic tests in diagnosing CNS infections and the distribution of viral pathogens in pediatric patients. A total of 145 pediatric patients with a prediagnosis of CNS infection based on clinical findings by a pediatric infectious disease specialist were included in the study.

View Article and Find Full Text PDF

[Genomic Characterization of SARS-CoV-2 Isolates Obtained from Antalya, Türkiye].

Mikrobiyol Bul

October 2024

The University of Groningen, University Medical Center Groningen, Department of Medical Microbiology and Infection Prevention, Division of Clinical Virology, Groningen, Netherlands.

As the number of coronavirus diseases-2019 (COVID-19) cases have decreased and measures have started to be implemented at an individual level rather than in the form of social restrictions, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) still maintains its importance and has already taken its place in the spectrum of agents investigated in multiplex molecular test panels for respiratory tract infections in routine diagnostic use. In this study, we aimed to present mutation analysis and clade distribution of whole genome sequences from randomly selected samples that tested positive with SARS-CoV-2 specific real-time reverse transcription polymerase chain reaction (rRT-PCR) test at different periods of the pandemic in our laboratory with a commercial easy-to-use kit designed for next-generation sequencing systems. A total of 84 nasopharyngeal/oropharyngeal swab samples of COVID-19 suspected patients which were sent for routine diagnosis to the medical microbiology laboratory and detected as SARSCoV-2 RNA positive with rRT-PCR were randomly selected from different periods for sequence analysis.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!