目的 探讨唐氏综合征血清学筛查风险值异常孕妇选择接受无创产前基因检测（NIPT）的影响因素,为临床制定对应策略提供参考依据。方法 选取2022年1月—2022年12月唐氏综合征血清学筛查风险值异常孕妇229例,根据是否接受NIPT分为接受组（195例）与不接受组（34例）。收集两组临床资料,采用Lasso-Logistic回归分析唐氏综合征血清学筛查风险值异常孕妇接受NIPT的影响因素。结果 单因素分析显示,年龄、文化水平、居住地、家庭平均月收入、孕前优生优育检查、孕前合并生殖相关疾病、受孕方式、不良孕产史、家族史、补充叶酸、配偶意愿、NIPT认知水平、血清学风险等级是血清学筛查异常孕妇接受NIPT的影响因素（P<0.05）;Lasso回归分析筛选出7个变量,分别为年龄、文化水平、家庭平均月收入、不良孕产史、家族史、NIPT认知水平、血清学风险等级;Logistic回归分析,年龄（OR=6.269,95%CI：2.413~16.285）、文化水平（OR=4.119,95%CI：1.627~10.430）、家庭平均月收入（OR=5.102,95%CI：2.067~12.594）、不良孕产史（OR=5.247,95%CI：1.833~15.021）、家族史（OR=7.416,95%CI：2.952~18.629）、NIPT认知水平（OR=5.751,95%CI：2.338~14.146）、血清学风险等级（OR=7.866,95%CI：3.057~20.238）是血清学筛查异常孕妇接受NIPT的影响因素（P<0.05）。结论 唐氏综合征血清学筛查风险值异常孕妇选择接受NIPT的影响因素较多,包括年龄、文化水平、家庭平均月收入、不良孕产史、家族史、NIPT认知水平、血清学风险等级,能为临床提高NIPT接受度提供指导信息。

Objective To explore the influencing factors of noninvasive prenatal testing（NIPT）for pregnant women with abnormal risk value of serological screening for Down syndrome,and to provide reference for clinical development of corresponding strategies．Methods A total of 229 pregnant women with abnormal serological screening risk values for Down syndrome from January 2022 to December 2022 were selected and divided into acceptance group（195 cases）and non-acceptance group（34 cases）according to whether they received NIPT．The clinical data of the two groups were collected and Lasso-Logistic regression was used to analyze the factors influencing the acceptance of NIPT in pregnant women with abnormal serological screening risk value for Down syndrome．Results In single factor analysis,age,education level,place of residence,average monthly family income,pre-pregnancy and childbearing examination,pre-pregnancy combined with reproductive diseases,conception method,adverse pregnancy history,family history,folic acid supplementation,spouse intention,NIPT cognition level and serological risk grade were the influencing factors for the acceptance of NIPT in pregnant women with abnormal serological screening（P<0.05）．Seven variables were selected by Lasso regression analysis,which were age,education level,average monthly family income,adverse pregnancy history,family history,NIPT cognition level and serological risk level．Logistic regression analysis showed that age（OR=6.269,95%CI：2.413-16.285）,education level（OR=4.119,95%CI：1.627-10.430）,average monthly family income（OR=5.102,95%CI：2.067-12.594）,adverse pregnancy history（OR=5.247,95%CI：1.833-15.021）,family history（OR=7.416,95%CI：2.952-18.629）,NIPT cognitive level（OR=5.751,95%CI：2.338-14.146）and serological risk level（OR=7.866,95%CI：3.057-20.238）were independent influencing factors for NIPT acceptance in pregnant women with abnormal serological screening（P<0.05）．Conclusions There are many influencing factors for pregnant women with abnormal serological screening risk value to accept NIPT,including age,education level,average monthly family income,adverse pregnancy history,family history,NIPT cognition level,serological risk grade,etc．,which can provide guidance information for clinical improvement of NIPT acceptance．

目的 分析KRAS基因突变在左半结肠、右半结肠癌分布几率的差异性。方法 回顾性分析我院病理科分子实验室2015年到2017年间接收的537例结肠癌手术标本,用ARMS-PCR法进行了KRAS基因的检测,并对左右半结肠腺癌KRAS基因突变比例进行χ²检验,P＜0.05为差异有统计学意义。结果 537例中有187(34.82%)例为右半结肠腺癌,左半结肠腺癌有350(65.18%)例。KRAS基因突变检测阳性例数为240例,阳性率为44.69%;右半结肠腺癌KRAS基因突变阳性数为114例,阳性率为60.96%;左半结肠癌KRAS基因突变阳性数为126例,阳性率为36.00%。双侧结肠腺癌KRAS基因突变差异有统计学意义。结论 右半结肠癌的患病例数低于左半结肠癌,右半结肠癌KRAS基因突变阳性率较左半结肠癌高,本研究为区分左右半结肠癌的分子靶向治疗提供了数据支持。

Objective To analyze the differences distribution of KRAS gene mutations in the left hemi colon cancer and right hemi colon cancer. Methods Retrospectively to analyse the 537 colorectal cancer patients who were received by our molecular laboratory of pathology from 2015 to 2017, ARMS-PCR method was used to detect the KRAS gene. The ratio of KRAS gene mutation in left and right hemi colon cancer was tested by χ² test, P<0.05 was considered statistically significant. Results There were 187(34.82%) patients with right hemi colon cancer; and there were 350 (65.18%)patients with left half hemi colon cancer. The KRAS positive patients were 240 cases, which were 44.69% in total. The positive patients with right hemi colon cancer were 114 cases which had a higher rate of 60.96%, the left hemi colon cancer patients were 126 cases with a lower rate of 36.00%. Conclusion The number of right hemi colon cancer was lower than the number of left hemi colon cancer. And the KRAS gene mutation in right hemi colon cancer had more positive than left hemi colon cancer. This study provides a number aid for treating right and left colon cancer in the subsequent molecular targeted drug therapy.

目的 通过对未进行过商业基因检测(NCGT)社区居民和直接面向消费者的基因测试(DCGT)消费群体的调查,分析市场基因测试产品的消费构成和消费者社会特征与基因检测消费的相关因素。方法 采用分层随机抽样方法对广州市居民和直接面向消费者的基因检测非患者居民进行面访式调查,采用Logistics回归分析商业基因测试的相关社会学因素。结果 NCGT社区居民中其家庭成员进行过胎儿产前筛查基因检测的比例(26.3%)较高、DCGT人群因常规健康体检包含基因检测项目而进行基因测试的比例(44.8%)最高,儿童天赋基因的测试比例(23.3%)也相对较高,两个群体均认为基因检测的目的主要是预防疾病,信任的检测机构为医院。DCGT行为相关的社会学特征有婚姻(已婚vs未婚:OR=5.591,P<0.001)、学历(专科以上vs专科及以下:OR=0.071,P<0.001)、年龄(30～49岁组vs其他组:OR=0.223,P<0.001)、工作(全职vs其他:OR=4.660,P<0.001)、公费医疗(OR=1.183,P=0.021)和商业保险(OR=2.121,P=0.004)。结论 公众将基因测试看成是预防疾病和控制遗传性疾病的公共卫生手段,需要在医院将基因检测和个性化治疗对应起来。

Objective By investigating consumer groups that have no-commercial genetic testing (NCGT) community residents and direct-to-consumers genetic testing (DCGT), to analysze the consumer composition of market genetic testing products and the factors related to consumer social characteristics. Methods A stratified random sampling method was used to conduct a face-to-face survey of residents and non-patients of genetic testing in Guangzhou residents. The logistic regression analysis was used to analyze the sociological factors of commercial genetic testing. Results The proportion of children in the NCGT community who had prenatal screening for prenatal screening (26.3%) was higher, and the proportion of DCGT populations that were genetically tested for routine health checkups containing genetic testing (44.8%) was the highest. The proportion of test genes (23.3%) is also relatively high. Both groups believe that the purpose of genetic testing is mainly to prevent diseases, and the testing institutions for their trust are hospitals. The sociological characteristics associated with DCGT behavior are marriage (married vs unmarried: OR=5.591, P<0.001), education (specialist vs. specialist and below: OR=0.071, P<0.001), age (30~49 years vs others, OR=0.223, P<0.001), work (full-time vs other: OR=4.660, P<0.001), public medical care (OR=1.183, P=0.021) and commercial insurance (OR=2.121, P=0.004). Conclusion The public regards genetic testing as a public health tool for preventing diseases and controlling hereditary diseases, and it is necessary to correlate genetic testing with personalized treatment in hospitals.

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 了解青海省北京/W系结核分枝杆菌分布特征。方法 收集青海地区结核分支杆菌临床分离株,采用RD105缺失基因检测鉴定北京/W系结核分枝杆菌。结果 共收集237株结核分枝杆菌临床分离株,采用RD105缺失基因检测鉴定北京/W系结核分枝杆菌220株,占92.8%,非北京/W结核分枝杆菌,共17株,占7.2%。北京/W系结核分枝杆菌在青海地区性别与民族分布差异没有统计学意义(P＞0.05)。结论 北京/W结核分枝杆菌为青海地区流行菌株,在人群易于发生感染和传播。

Objective To ascertain the epidemiological characteristics of Beijing/W lineage Mycobacterium tuberculosis in Qinghai Province. Methods M. tuberculosis clinical isolates were collected and identified with an RD105 deletion test.Statistical analysis was performed by using the test. Results Totally, 237 clinical isolates of M. tuberculosis were collected in which 220 strains (92.8%) belonged to the Beijing/W lineage of M. tuberculosis while 17strains (7.2%) belonged to the non-Beijing/W lineage of M. tuberculosis according to the RD105 deletion test. There were no significant differences in the distribution of Beijing/W lineage of M. tuberculosis in the gender and nationality (P＞0.05). Conclusion Beijing/W lineage of M. tuberculosis were prevalent in Qinghai province and prone to having infection and transmission in the crowd.