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PubMed2026

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.

BACKGROUND: Optical genome mapping (OGM) is an emerging cytogenetic method for concurrently detecting structural variants (SVs) and copy number variants (CNVs). However, its clinical application in prenatal diagnosis remains underexplored. METHODS: This study retrospectively evaluated the clinical validity of OGM in prenatal diagnosis by comparing with two routine genetic testing methods: karyotyping and chromosomal microarray analysis (CMA). Both positive and negative cases detected by routine genetic methods were enrolled to evaluate the technical concordance of OGM and its capability to improve diagnostic rate in negative cases. The exclusion criteria were balanced centromeric translocations, mosaic cases with cellular fractions&#x2009;<&#x2009;20%, and loss of heterozygosity (LOH)&#x2009;<&#x2009;25&#xa0;Mb. All samples subjected to OGM testing were anonymized and analyzed blindly. The results from OGM were compared with those from routine genetic testing, and statistical analyses were performed to assess technical concordance and diagnostic rate. RESULTS: Of 217 samples (166 positive samples and 51 negative samples for routine genetic testing), all were successfully tested with OGM, including 2 umbilical cord blood samples, 4 chorionic villi samples, and 211 cultured amniotic fluid samples. Of the 207 reportable chromosomal aberrations from 166 positive samples, the blinded concordance between OGM and CMA, karyotyping, and combination of karyotyping plus CMA was 97.81%, 96.36%, and 97.10%, respectively. OGM missed six aberrations initially, including one LOH, two marker chromosomes, and three microdeletions. However, after reanalysis, its concordance improved to 100% with CMA and 99.03% with karyotyping plus CMA. OGM also diagnosed one additional case of a 3-kb deletion in 51 negative samples, improving the diagnostic rate by 1.96%. Moreover, OGM reclassified the pathogenicity of two microdeletions from pathogenic to uncertain significance in 2 positive cases. Furthermore, OGM clarified the diagnosis suspected by routine genetic testing and improved diagnostic accuracy in some cases. CONCLUSION: As far as we know, this is the largest retrospective study on OGM in prenatal diagnosis, and it includes a broad range of sample types. The results showed that OGM exhibits high concordance among the tested methods and increases the diagnostic rate. Thus, OGM has the potential to become a first-line technique for prenatal diagnosis in the future.

Humans↗
PubMedDate not supplied

Human immunodeficiency virus infection in women attending an inner-city prenatal clinic: ineffectiveness of targeted screening.

Women attending an inner-city prenatal clinic between February, 1987 and August, 1988 completed a questionnaire to assess risk factors for human immunodeficiency virus (HIV) infection. Women with risk factors were offered HIV testing. Testing was available to women without risk factors upon their request. Stored sera were obtained for anonymous HIV testing on patients not consenting for testing. Overall, 30 of 622 women (5%) tested HIV positive. Ten per cent of women acknowledging risk factors were seropositive vs 3% denying risk factors (P less than .001). Intravenous (IV) drug use was reported in 40% of seropositive women. However, 47% (14/30) of HIV seropositive women denied risk factors for infection. Limiting prenatal HIV screening to women acknowledging risk factors may fail to identify a substantial number of infected women. Screening for HIV infection, counseling, and education on risk reduction should be offered to all pregnant women.

Adolescent↗
PubMed2006

Effectiveness of an evidence-based chiropractic continuing education workshop on participant knowledge of evidence-based health care.

BACKGROUND: Chiropractors must continue to learn, develop themselves professionally throughout their careers, and become self-directed and lifelong learners. Using an evidence-based approach increases the probability of optimal patient outcomes. But most chiropractors lack knowledge and interest in evidence-based approaches. The purpose of this study was to develop and measure the effectiveness of evidence-based training for chiropractic practitioners in a continuing education setting. METHODS: We developed and evaluated a continuing education workshop on evidence-based principles and methods for chiropractic practitioners. Forty-seven chiropractors participated in the training and testing. The course consisted of 12.5 hours of training in which practitioners learned to develop focused questions, search electronic data bases, critically review articles and apply information from the literature to specific clinical questions. Following the workshop, we assessed the program performance through the use of knowledge testing and anonymous presentation quality surveys. RESULTS: Eighty-five percent of the participants completed all of the test, survey and data collection items. Pretest knowledge scores (15-item test) were low (47%). Post intervention scores (15-item test) improved with an effect size of 2.0. A 59-item knowledge posttest yielded very good results (mean score 88%). The quality of presentation was rated very good, and most participants (90%) would "definitely recommend" or "recommend" the workshop to a colleague. CONCLUSION: The results of the study suggest that the continuing education course was effective in enhancing knowledge in the evidence-based approach and that the presentation was well accepted.

Journal Article↗
PubMedDate not supplied

Methods of surveillance for HIV infection at U.S. sentinel hospitals.

The U.S. sentinel hospital surveillance system for human immunodeficiency virus (HIV) infection includes approximately 40 short-stay hospitals located in 31 metropolitan areas in the United States and Puerto Rico. Several hospitals began testing in late 1986, and additional sentinel hospitals have since been recruited. At each sentinel hospital, anonymous, unlinked testing for antibody to HIV is conducted monthly on 300 blood specimens, selected systematically and stratified by age of the patient. Specimens are excluded from patients whose reason for hospital visit on that occasion was for a medical condition associated with HIV infection or with risk factors for HIV infection, in order to limit the expected overrepresentation of HIV-infected persons among hospital patients compared with the general catchment population of the hospital. The incidence of acquired immunodeficiency syndrome (AIDS) in metropolitan areas with sentinel hospitals has been approximately twice the incidence of AIDS in the entire United States. However, while absolute levels of HIV seroprevalence should therefore be interpreted with caution, trends in the age-, sex-, and race-specific HIV seroprevalence at sentinel hospitals likely reflect trends in the communities served by the hospitals. Although concentrated in areas disproportionately affected by AIDS, sentinel hospitals will contribute seroprevalence data over time that reflect the impact of HIV infection across all age and behavioral risk groups. Sentinel hospitals will also constitute a key surveillance system to help integrate the age group-specific and risk group-specific findings from other activities in the CDC family of seroprevalence surveys.

AIDS Serodiagnosis↗
PubMed1990

Prevalence of HIV antibody and pregnancy in Tayside, 1984-9: background to screening.

OBJECTIVE: To determine age specific prevalence of HIV antibody, incidence of pregnancy, and likelihood of detection and correct assignment to risk category by antenatal screening of women known to be positive for HIV antibody, from 1984 to 1989. DESIGN: Retrospective analysis of reproductive history and risk behaviour of women positive for HIV antibody and prediction of detection by screening on the basis of blood group samples, Guthrie tests, and rubella tests. SETTING: City of Dundee, where the prevalence of HIV is high, since the appearance of HIV in 1984, predominantly among heterosexual intravenous drug users. PATIENTS: All (61) women known to be positive for HIV antibody who had had clinically indicated tests, for whom case notes were available for 60. MAIN OUTCOME MEASURES: Risk assessment according to case notes and reported to the laboratory, incidence of infection, geographical location, age, date of positive test result, and reproductive history. RESULTS: With 61 infected women the overall minimum prevalence among women within the city of Dundee was 0.67/1000 and 2.9/1000 among women in their third decade. Of the 60 women whose reproductive history was available, 35 had 57 pregnancies, 36 of which occurred after seroconversion was known to have taken place, representing 8.7% of the total number of affected pregnancies reported for the United Kingdom. If antenatal screening for HIV had been performed between 1984 and 1989 it could not have detected positivity for HIV antibody in 25 (42%) women who had no pregnancies during this time. Among the remaining 35 women, screening samples taken for blood grouping could have identified a maximum of 34 (57%), samples taken to check rubella susceptibility a maximum of 22 (37%), and blood spots on Guthrie cards a maximum of 19 (32%). Retesting would have occurred in 14 women 33 times with samples taken for blood grouping, but three and four women would have been tested twice using samples taken for rubella testing and Guthrie cards respectively. Anonymous screening would have been unable to determine risk category as a history of intravenous drug use was known in 47 (79%) women before testing but this was increased by a further 5 (8%) who admitted to it after the test result was known. CONCLUSION: Interpreting the results of antenatal screening programmes will be complex and will underestimate overall prevalence of HIV antibody among women; this will be exaggerated by strategies based on anonymous testing with Guthrie cards or on samples taken for rubella testing, which do not include women who have had an earlier loss of pregnancy. Only open testing with consent will permit satisfactory attribution to

Acquired Immunodeficiency Syndrome↗