Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

Objectives To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling

ホウモン カイゴ ト ホウモン ニュウヨク カイゴ ニオケル カンセンショウ ト カンセン ヨボウ ノ ゼンコク チョウサ

在宅医療の進展に鑑み、344訪問介護事業所と1208訪問入浴介護事業における感染予防の状況に関する質問紙による全国調査を、2006年1月と6月に行った。結果は以下のようであった。1)訪問介護事業所の70.3%と訪問入浴介護事業所の92.9%が要介護5の利用者のケアを受け持っていた。2)訪問入浴介護事業所の60.5%が感染症と診断された利用者を受け持っていた。また、訪問入浴介護事業所のうち76.1%が褥創のある利用者がいると回答しており、70.3%では膀胱留置カテーテルを装着している利用者がいた。これらからは、訪問入浴事業所では訪問看護ステーションと同様に、感染症のリスクの高い易感染者を多くケアしていることが示されていた。3)訪問介護事業所の70.3%と訪問入浴介護事業所の89.7%は感染対策マニュアルを保有していたが、約30%の事業所では職員に対する感染対策研修を実施していない結果であった。日本では、在宅訪問事業に関わる事業所の規模が小さく、現場で感染予防教育を組織的に行うには困難が伴う。理論と実践の両面からの感染予防教育が介護基礎教育課程で強化されるべきである。The present situation of infection control strategies in 344 home‑visit care facilities and 1208 home‑visit bathing care facilities were evaluated using questionnaires in January and June, 2006. The results were as follows: 1) 70.3% of home‑visit care facilities and 92.9% of home‑visit bathing facilities had users who were classified as care level 5. 2) 60.5% of the home‑visit bathing care facilities had users who had been diagnosed with infections, 76.1% of them had users who were suffering from decubitus, and 70.3% of them had users using bladder catheters, indicating that these facilities gave care to the users who were immune‑compromised hosts having risks for infections as well as the users in home‑visit nursing care stations. 3) 70.3% of home‑visit care facilities and 89.7% of home‑visit bathing care facilities had their manuals for infection control, but about 30% of them did not make time to educate their staff regarding infection control. In Japan, most home‑visit facilities consist of so small number of staff members, where systematic education of infection control seems to be difficult to perform through active services. Theoretical and practical education of infection control should be carried out as part of the curriculum of basic education for students of care personnel

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable

Disparity of Cervical Cancer Risk in Young Japanese Women: Bipolarized Status of HPV Vaccination and Cancer Screening

Women born between 1994 and 1999 achieved high vaccination rates for human papillomavirus (HPV); they are now reaching the age of cervical cancer screening programs in Japan. In this study, we aimed to investigate the health awareness of HPV-vaccinated and unvaccinated women and to create tailored leaflets recommending cervical cancer screening for each. Surveys on the cancer screening rates for HPV-vaccinated and unvaccinated women aged 20 and 21 have demonstrated that the rate was significantly higher (p < 0.01) in vaccinated (6.2%) than in unvaccinated women (3.1%). Next, interviews and Internet questionnaires clarified that there was a trend that vaccinated women have a better health consciousness than the unvaccinated ones, and that in unvaccinated women, their willingness to receive cervical cancer screening was significantly enhanced by the fear of developing cancer. Finally, in a prospective study, the increase in the screening rate for both vaccinated and unvaccinated groups after they read tailored leaflets, from 6.4% to 7.4% and from 3.9% to 5.1%, respectively, was not statistically significant compared to the groups provided with a standard reminder letter. Cervical cancer control measures might be enhanced by recommending cervical cancer screening in ways better tailored to HPV vaccination status