目的 分析无创产前基因检测(NIPT)在胎儿染色体非整倍体疾病诊断中的检出效率及临床应用价值。方法 选取2016年4月—2018年3月在我院接受无创产前基因检测的3 759例孕妇作为研究对象,利用二代测序AR550平台结合生物信息学进行无创产前基因检测,NIPT 的检测范围包括21、18、13 及性染色体非整倍体。对 NIPT 高风险的孕妇,建议行羊水或脐血穿刺染色体核型分析,比较两者结果的一致性,并随访妊娠结局。结果 3759例孕妇中NIPT提示高风险27例,阳性率为0.71%。其中24例孕妇行染色体核型分析,确诊为 21-三体14例、18-三体1例、13-三体1例和性染色体数目异常4例,阳性预测值分别为100%、50%、100%和66.7%。其中NT增厚中无创孕妇99例,检出高风险为5例,检出率为5.05%（5/99）,明显高于总体检出率。结论 NIPT 对 21-三体和 18-三体具有较高的敏感性和特异性,能提高产前筛查和诊断效率,具有较好的临床应用价值.

Objective To analyze the efficiency and clinical value of noninvasive prenatal gene test (NIPT) in the diagnosis of fetal chromosomal aneuploidy. Methods From April 2016 to March 2018, 3 759 pregnant women who underwent noninvasive prenatal gene testing in our hospital were selected as subjects. The second generation sequencing AR550 platform combined with bioinformatics was used for noninvasive prenatal gene testing. The NIPT detection ranged from 21, 18, 13 to sex chromosome aneuploidy. For pregnant women at high risk of NIPT, amniotic fluid or umbilical cord blood puncture karyotype analysis was recommended to compare the consistency of the two results, and follow-up pregnancy outcomes. Results Among 3 759 pregnant women, NIPT showed 27 cases of high risk, with a positive rate of 0.71%. Twenty-four pregnant women were diagnosed as 21-trisomy in 14 cases, 18-trisomy in 1 case, 13-trisomy in 1 case and abnormal sex chromosome number in 4 cases. The positive predictive values were 100%, 50%, 100% and 66.7% respectively. Among them, 99 cases were non-invasive pregnant women with NT thickening, and 5 cases were at high risk of detection. The detection rate was 5.05% (5/99), which was higher than the overall detection rate. Conclusion NIPT has high sensitivity and specificity to 21-trisomy and 18-trisomy, can improve the efficiency of prenatal screening and diagnosis, and has good clinical application value.

目的 探讨传统支气管针吸活检 (cTBNA )与超声支气管镜引导下针吸活检(EBUS-TBNA)对于肺部疾病伴有肺门及纵膈淋巴结肿大患者的诊断价值。方法 2012 年8月—2014年6月对在我院行CT检查提示肺部伴有肺门和/或纵膈淋巴结病变的患者38例, 分别利用cTBNA或EBUS-TBNA检查对肿大的淋巴结行TBNA,对所获得的标本进行相应的细胞学检查。结果 38例病例均经组织病理学诊断后确诊,并经过6个月的随访,其中cTBNA组(n=19)经组织病理明确诊断的包括:1例结核,5例小细胞肺癌,6例腺癌,3例鳞癌,1例大细胞癌,3例慢性炎症,cTBNA细胞学诊断阳性诊断率为63.16%(12/19),cTBNA组细胞学诊断肺癌的敏感度为66.67％(10/15),特异度为100％。EBUS-TBNA组(n=19)组织病理学诊断明确的1例为肺结核,1例为纵隔恶性肿瘤,1例为结节病,1例大细胞癌,1例小细胞癌,7例腺癌,5例鳞癌,2例为慢性炎症,EBUS-TBNA细胞学阳性诊断率为78.94%(15/19)。两种方法在诊断肺门及纵膈淋巴结肿大的疾病中有差异(P<0.05)。EBUS-TBNA组细胞学诊断肺癌的敏感度为86.67％(13/15),特异度为100％。结论 EBUS-TBNA细胞学检查对肺部疾病伴有肺门及纵膈淋巴结肿大的诊断率较cTBNA高,可明显提高检查阳性率,具有重要临床意义。

Objective To evaluate the value of clinical application between cTBNA and EBUS-TBNA in diagnosis of mediastinal and hilar lymph nodes. Methods Between August 2012 and June 2014, 38 in-patients with mediastinal and hilar lymph nodes took conventional transbronchial needle aspiration( cTBNA,n=19) or endobronchial ultrasound-guided transbronchial needle aspiration(EBUS-TBNA, n=19), and we were comparing the diagnostic results of two methods. Results 19 patients in the cTBNA group were diagnosed by forceps biopsy,including 1 case of lung cancer and 162 cases of tuberculosis, 5 cases of small cell lung cancer, 6 cases of adenocarcinoma, 3 cases of squamous cell carcinoma, 1 case of large cell carcinoma, 3 cases of chronic inflammation, a cytological diagnosis of TBNA positive in 12 cases (63.16%). In the EBUS-TBNA group (n=19), the patients were diagnosed by accepting forceps biopsy, 1 case of tuberculosis, 1 case of mediastinal malignant tumor, 1 cases of sarcoidosis, 1 cases of large cell carcinoma, 1 case of small cell carcinoma, 7 cases of adenocarcinoma, 5 cases of squamous cell carcinoma, 2 cases of chronic inflammation, EBUS-TBNA cytology positive rate of diagnosis was 14 (73.68%). Two techniques in the diagnosis of mediastinal and hilar lymph nodes have statistically significant(P<0.05). The sensitinty of cytology in the diagnosis of lung caner was 86.67%(13/15),and the specificity was 100%(EBUS-TBNA). Conclusion EBUS-TBNA is an effective tool in the diagnosis of mediastinal and hilar lymph nodes and superior to cTBNA.

目的 调查分析病案首页疾病诊断存在的问题,以提出针对性的干预对策。方法 由病案科编码员根据《卫生部关于修订下发住院病案首页的通知》相关规定,对抽取的4200份病案首页的疾病诊断进行检查,对疾病诊断问题分类记录,同时对其发生原因进行问卷调查,建立相应数据库,应用Excel统计工具进行统计分析。结果 共748份的疾病诊断存在问题,发生率高达17.8%,包括疾病诊断中主要诊断选择错误8.3%、疾病诊断的名称不规范7.6%,以及漏诊问题1.8%。疾病诊断存在问题发生率较高的临床科室为内分泌科38.0%,骨科科32.8%,肿瘤科31.6%。在读研究生最容易出现疾病诊断问题,发生率高达48.0%。结论 对疾病诊断存在问题的高发临床医师群体和临床科室进行针对性干预对策,有望降低病案首页疾病诊断问题的发生率。

Objective To investigate the defects analysis and targeted intervention on the diseases diagnosis in the home pages of medical records. Methods To conduct an inspection analysis on the four thousand and two hundred medical records according to the related requirements of “Notification on Standard writing in Home Pages of Hospitalization Medical Records announced by the Ministry of Health” by professional medical records staff.They found out and classified the defects on the diseases diagnosis in the home pages of medical records,at the same time,questionnaire survey were carried on to investigate the related causes,and the corresponding database establish ed.Excel statistical tools were applied for statistical analysis. Results There were defects on the diseases diagnosis in a total of seven hundred and forty-eight cases,the incidence of which was 17.8%,including 8.3% of mistakes of main diagnosis,7.6% of lack of standardization in diagnosis names,1.8% of missed diagnosis respectively.Defects on the diseases diagnosis occurred in a higher rate in the clinical departments,such as department of endocrine with 38.0%,department of orthopedics with 32.8%,and department of oncology with 31.6%.Graduate students most prone to make mistakes with defects on the diseases diagnosis,the incidence of which was 48.0%. Conclusion Targeted interventions to clinician groups and clinical departments with high incidence of defects on the diseases diagnosis,is expected to reduce the incidence of which in the home pages of medical records.