Clinical chemistry and laboratory medicine最新文献

Objectives: Expanded carrier screening (ECS) is a preventive genetic test that enables couples to know their risk of having a child affected by certain monogenetic diseases. This study aimed to evaluate the carrier frequency for rare monogenic diseases in the general Chinese population and the impacts of ECS on their reproductive decisions and pregnancy outcomes.

Methods: This single-center study was conducted between September 2022 and April 2023. An ECS panel containing 224 recessive genes was offered to 1,499 Chinese couples from the general population who were at early gestational ages or planned to conceive.

Results: Overall, 55.0 % of the individuals carried for at least one recessive condition. There were 16 autosomal recessive (AR) genes with a carrier frequency of ≥1/100 and 22 AR genes with a carrier frequency of <1/100 to ≥1/200. The most common AR and X-linked diseases were GJB2-related non-syndromic hearing loss, and hemolytic anemia, respectively. Fifty-five couples (3.67 %; 1 in 27.3) were at increased risk of having an affected child with 19 pregnant at the time of testing. Of these, 10 opted for amniocentesis, and four affected pregnancies were identified, with three of them being terminated.

Conclusions: This study not only provides valuable information about the recessive genetic landscape, but also establishes a solid foundation for couple-based ECS in a real clinical setting.

Objectives: CD34+ hematopoietic stem cell (HSC) enumeration, crucial for HSC transplantation, is performed by flow cytometry to guide clinical decisions. Variability in enumeration arises from biological factors, assay components, and technology. External quality assurance schemes (EQAS) train participants to minimize inter-laboratory variations. The goal is to estimate total error (TE) values for CD34 cell enumeration using state-of-the-art (SOTA) methods with EQA data and to define quality specifications by comparing TE using different cutoffs.

Methods: A total of 3,994 results from 40 laboratories were collected over 11 years (2011-2022) as part of the IC-2 Stem Cells Scheme of the GECLID Program that includes absolute numbers of CD34 cells. The data were analyzed in two periods: 2011-2016 and 2017-2022. The TE value achieved by at least 60 %, 70 %, 80 %, and 90  % of laboratories was calculated across the two different periods and at various levels of CD34 cell counts: above 25, 25 to 15, and under 15 cells/μL.

Results: A decrease in the SOTA-based TE for CD34 cell enumeration was observed in the most recent period in 2017-2021 compared with 2012-2016. A significant increase of P75 TE values in the low CD34 range (<15 cells/μL) levels was found (p<0.001).

Conclusions: Technical advancements contribute to the decrease TE over time. The TE of CD34 cell FC counts is measure-dependent, making it responsive to precision enhancement strategies. The TE measured by EQAS in this study may serve as a quality specification for implementing ISO 15189 standards in clinical laboratories for CD34 cell enumeration.

Objectives: This study examined the comparability of venous and capillary blood samples with regard to routine chemistry analytes.

Methods: Venous and capillary blood samples were collected from adult patients to assess comparability of alanine transaminase, albumin, alkaline phosphatase, apolipoprotein B, aspartate aminotransferase, total bilirubin, calcium, chloride, creatin kinase, creatinine, C-reactive protein, ferritin, folic acid, free T4, gamma glutamyltransferase, glucose, high density lipoprotein cholesterol, iron, lipase, lipoprotein a, magnesium, phosphate, postassium, prostate specific antigen, sodium, total cholesterol, total protein, transferrin, triglycerides, thyroid stimulating hormone, urate, urea, vitamin B12 and 25-hydroxyvitamin-D3. Furthermore, hemolysis-icterus-lipemia Index (HIL-Index) was measured for all samples. All measurements were performed using the Siemens Atellica^® CH or IH Analyzer. Deming regression analysis and mean relative differences between venous and capillary measurements of each analyte were contrasted with the desirable total allowable error (TEa) and Clinical Laboratory Improvement Amendments (CLIA) 2024 proposed acceptance limits for proficiency testing.

Results: Deming regression and mean relative differences demonstrated excellent comparability between venous and capillary samples for most measured analytes.

Conclusions: Capillary and venous samples showed comparable results for almost all studied chemistry analytes. Of the 33 studied analytes for which TEa criteria where available, 30 met TEa criteria. CLIA 2024 criteria where available for 29 of the studied analytes of which only glucose did not meet the criteria. In conclusion, capillary blood draw is a suitable alternative for venous blood sampling for measuring most of the investigated analytes. This benefits patients with fear of needles and might pave the way for remote self-sampling.

Objectives: To evaluate the efficacy, safety and efficiency performances related to the introduction of innovative traceability platforms and integrated blood collection systems, for the improvement of a total testing process, thus also assessing the economic and organizational sustainability of these innovative technologies.

Methods: A mixed-method approach was utilized. A key-performance indicators dashboard was created based on a narrative literature review and expert consensus and was assessed through a real-life data collection from the University Hospital of Padova, Italy, comparing three scenarios over time (2013, 2016, 2019) with varying levels of technological integration. The economic and organizational sustainability was determined considering all the activities performed from the tube check-in to the validation of the results, with the integration of the management of the prevalent errors occurred during the process.

Results: The introduction of integrated venous blood collection and full sample traceability systems resulted in significant improvements in laboratory performance. Errors in samples collected in inappropriate tubes decreased by 42 %, mislabelled samples by 47 %, and samples with irregularities by 100 %. Economic analysis revealed a cost saving of 12.7 % per tube, equating to a total saving of 447,263.80 € over a 12-month period. Organizational efficiency improved with a reduction of 13,061.95 h in time spent on sample management, allowing for increased laboratory capacity and throughput.

Conclusions: Results revealed the strategic relevance of introducing integrated venous blood collection and full sample traceability systems, within the Laboratory setting, with a real-life demonstration of TLA economic and organizational sustainability, generating an overall improvement of the process efficiency.

Male infertility has become an important issue of global concern. Semen analysis is the cornerstone of male fertility assessment. External quality assessment (EQA) of sperm concentration, motility, and morphology is widely recognized in the world. However, over the past 34 years, the implementation of EQA for semen analysis has varied across different countries, and there is no global consensus. The goal of this paper is to first explore the overall development of EQA during this period. Secondly, it aims to discuss the extent of difference of participating laboratories in different countries. Finally, the paper examines the differences in EQA programs developed by various EQA providers in order to seek a global standard. In total, 29 papers met the inclusion criteria and were included in this review. There is inconsistent in the implementation of EQA across different countries, and there is no global consensus. Policies for EQA of semen analysis vary from country to country. Some countries mandate laboratory participation, while others permit voluntary involvement. Different EQA organizers choose different ways to calculate assigned value and acceptance limits. The coefficient of variation (CV) for each EQA item was large. The CVs of concentration, motility, morphology, and viability were 12.7-138.0 %, 17.0-127.0 %, 7-375 %, and 6-41.1 %, respectively. The results of the semen analysis varied considerably among the participating laboratories. The collaborative efforts of national policymakers, EQA organizers, and all participating laboratories are essential to improving the current situation.