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Background: Products of conception samples are often collected and analyzed to try to determine the cause of an early pregnancy loss. However, sample collection may not always be possible, and maternal cell contamination and culture failure can affect the analysis. Cell-free DNA-based analysis of a blood sample could be used as an alternative method in early pregnancy loss cases to detect if aneuploidies were present in the fetus. Methods: In this prospective study, blood samples from early pregnancy loss patients were analyzed for the presence of fetal aneuploidies using a modified version of a noninvasive prenatal testing assay for cell-free DNA analysis. Results from cell-free DNA analysis were compared against the gold standard, microarray analysis of products of conception samples. This study was registered with ClinicalTrials.gov, identifier: NCT04935138. Results: Of the 76 patient samples included in the final study cohort, 11 were excluded from performance calculations. The 65 patient samples included in the final analysis included 49 with an abnormal microarray result and 16 with a normal microarray result. Based on results from these 65 samples, the study found that genome-wide cell-free DNA analysis had a sensitivity of 73.5% with a specificity of 100% for the detection of fetal aneuploidies in early pregnancy loss cases. Conclusions: This prospective study provides further support for the utility of cell-free DNA analysis in detecting fetal aneuploidies in early pregnancy loss cases. This approach could allow for a noninvasive method of investigating the etiology of miscarriages to be made available clinically.
RESUMO
OBJECTIVES: To investigate if the sport concussion assessment tool version 5 (SCAT5) could be suitable for application to Para athletes with a visual impairment, a spinal cord injury, or a limb deficiency. METHODS: A 16-member expert panel performed a Delphi technique protocol. The first round encompassed an open-ended questionnaire, with round 2 onwards being composed of a series of closed-ended statements requiring each expert's opinion using a five-point Likert scale. A predetermined threshold of 66% was used to decide whether agreement had been reached by the panel. RESULTS: The Delphi study resulted in a four-round process. After round 1, 92 initial statements were constructed with 91 statements obtaining the targeted level of agreement by round 4. The expert panellist completion rate of the full four-round process was 94%. In the case of athletes with a suspected concussion with either limb deficiencies or spinal cord injuries, the panel agreed that a baseline assessment would be needed on record is ideal before a modified SCAT5 assessment. With respect to visual impairments, it was conceded that some tests were either difficult, infeasible or should be omitted entirely depending on the type of visual impairment. CONCLUSION: It is proposed that the SCAT5 could be conducted on athletes with limb deficiencies or spinal cord injuries with some minor modifications and by establishing a baseline assessment to form a comparison. However, it cannot be recommended for athletes with visual impairment in its current form. Further research is needed to determine how potential concussions could be more effectively evaluated in athletes with different impairments.