Objective: To assess the value of non-invasive prenatal testing (NIPT) for the identification of fetal chromosomal aneuploidies. Methods: For 9470 pregnant women with a moderate-to-high risk by conventional serological screening or advanced maternal age, peripheral venous blood samples were collected and, following extraction of free fetal DNA, subjected to large-scale parallel sequencing on a Illumina Hiseq2000 platform. Those with a high risk by NIPT were validated by invasive prenatal diagnosis. Results: Out of the 9470 samples, 194 cases (2.0%) were positive by NIPT testing. These included 50 trisomy 21, 11 trisomy 18, 17 trisomy 13, 44 other autosomal aneuploidies, 55 sex chromosomal aneuploidies, and 17 chromosomal copy number variations. As validated by amniotic fluid or umbilical blood chromosomal karyotyping analysis, NIPT has a false positive rate of 2.0%, 18.2%, 41.2%, 97.7%, 81.8%, 94.1%, respectively. The test has a sensitivity of 100% and a specificity of 98.79%. Conclusion For common chromosomal aneuploidies such as trisomy 21 and trisomy 18, NIPT has a good sensitivity and specificity, therefore has good value for clinical application.

OBJECTIVETo assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo.

METHODSFor 2779 women, results of conventional karyotyping analysis and BoBs assay were compared.

RESULTSFor common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis. On the other hand, 17 structural chromosomal abnormalities, 10 chimeras and 1 triploidy detected by karyotyping analysis were missed by BoBs.

CONCLUSIONThe BoBs technology has featured high throughput and rapidity, and can detect 9 microdeletion syndromes, which can improve the quality of prenatal diagnosis and provide an ideal complementary for conventional chromosomal karyotyping.

Adult ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Artificial, Bacterial ; genetics ; Female ; Humans ; Karyotyping ; methods ; Pregnancy ; Prenatal Diagnosis ; methods

Objective:To train a deep convolutional neural networks (CNN) using a labeled data set to classify the metaphase chromosomes and test its accuracy for chromosomal identification.Methods:Three thousand and three hundred individuals undergoing surveillance for chromosomal disorders at the Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Maternal and Child Health Care Hospital from January 2013 to July 2019 were enrolled. A total of 3 300×46 chromosome images were included, of which 70% were used as the training set and 30% were used as the test set for the deep CNN. The accuracy of chromosome counting and "cutting + recognition + arrangement + automatic analysis" of the model were respectively evaluated. Another 80 images were collected to record the time and accuracy of chromosome classification by geneticists and the model, respectively, so as to assess the practical value of the model.Results:The CNN model was used to count the chromosomes with an accuracy of 61.81%, and the "cutting + recognition + arrangement + automatic analysis" accuracy of the model was 96.16%. Compared with manual operation, the classification time of the CNN model has been greatly reduced, and its karyotyping accuracy was only 3.58% lower than that of geneticists.Conclusion:The CNN model has a high performance for chromosome classification and can significantly reduce the work load involved with the segmentation and classification and improve the efficiency of chromosomal karyotyping, thereby has a broad application prospect.

Objective To study the relationship between bronchial asthma and smoking status in Chinese people.Methods Asthma epidemiological survey and stratified-cluster-random method survey were performed in residents over 14 years in 8 provinces (cities) of China from February 2010 to August 2012.Asthma was diagnosed based upon case history,clinical signs and lung function test.Smoking status was investigated by questionnaire.Results Sampling population was 180 099 and 164 215 were valid.A total of 2 034 subjects were diagnosed as asthma including 79 692 men and 84 523 women.The overall prevalence rate of asthma was 1.24％ (2 034/164 215).Smokers were 23.8％ (39 137/164 215) in the whole population.Smokers were 34.5％ (702/2 034) in asthmatic patients,compared with 23.7％ (38 435/ 162 181) in no-asthmatic population.The incidence of asthma was 1.79％ and 1.06％ in smokers and nonsmokers respectively (P ＜0.001),suggesting that OR of smoking was 1.70 (95％ CI 1.55-1.86,P ＜ 0.001).According to asthma control test (ACT) score,the level of asthma control in non smoking group was higher than that in smoking group(43.2％ vs 35.3％).The times of hospitalization due to acute exacerbations (0.51 vs 0.41 events/person/year),total hospitalization rate (27.35 ％ vs 20.12％),annual emergency room visits (0.80 vs 0.60 events/person/year) and emergency room visit rate (31.77％ vs 24.47％) were all much higher in smoking asthmatic patients than those in non smoking asthmatic patients,indicating that the level of asthma control in smoking patients was significantly worse than in non smoking patients.Conclusions The smoking rate in Chinese people over 14 years is still high.The prevalence rate of asthma in smokers is significantly higher than that of non-smokers.The level of asthma control in smokers is significantly worse than that in non smokers.

OBJECTIVE：To d iscuss the monitoring platform of rational use management indexes of key monitored drugs ，and to provide reference for improving their clinical application management. METHODS ：The method of literature research and expert demonstration was adopted ，the indexes of key monitored drugs in medical institutions were put forward. RESULTS & CONCLUSIONS：Finally，Eight general indexes as the list of top 20 drugs purchased by medical institutions ，the specifications of key monitored drugs purchased ，the utilization rate of key monitored drugs of inpatient ，the proportion of key monitored drugs revenue，the increase in the cost of key monitored drugs of inpatient ，the increase in the cost of key monitored drug of single inpatient，the increase of the cost per time of key monitored drugs of inpatient ，the proportion of doctor ’s order review for key monitored drugs were defined. Four major data acquisition projects as the general information of medical institutions ，medical record homepage ，inpatient medication data ，and medical institution drug procurement data were also defined. The monitoring platform of key monitored drugs in medical institutions can provide reference for improving the management of clinical application of key monitored drugs.