In recent years,prenatal diagnosis has a fast development in China,calling for optimized quality control system.The laboratories should take much count of external quality assessment,internal quality control,and pay close attention to pre-experimental quality control as well.The responsible institution should give instructions on laboratory quality control and the new developing technologies in prenatal diagnosis.Well evaluation and clear instructions are needed for these technologies.For doctors and pregnant women,they need know the advantages and disadvantages of all these techniques and make the best choice in their favor.For laboratories,technical standards are needed to standardize their clinical application.

Objective To evaluate the effectiveness of multiple quantitative fluorescence PCR ( QF-PCR) as a rapid technique for prenatal diagnosis of common chromosome aneuploidies , in order to optimize the prenatal diagnosis and shorten the period of diagnosis.Methods Totally 731 amniotic fluid samples of pregnant subjects ,who were referred to the Women′s Hospital School of Medicine Zhejiang University during August 2013 and September 2015, were analyzed with conventional karyotype and the QF-PCR technique by short tandem repeat(STR) markers to detect chromosomes 13,18,21,X and Y aneuploidies.There were 558 samples detected by single blind method , 173 samples detected by double blind method.Results All of the 731 amniotic fluid samples were tested in this study by QF-PCR and the results were compared to the conventional cytogenetic analysis results of the same sample.Totally 558 samples with single blind method detected 5 trisomy 21, 2 trisomy 18, 1 trisomy 13, 1(45,X), 1(47,XXY), 1(47,XYY), 1(47,XXX) and 1(69,XXX), 173 samples with double blind method detected 1 trisomy 21 and 1 trisomy 18.The rapid QF-PCR assay was successful to detect all aneuploidies involving chromosomes 21, 18, 13, X and Y in prenatal diagnosis , which were verified by chromosome karyotype analysis.The results of QF-PCR method were compared with the results of chromosome karyotype analysis , the positive rate was 15/16, the negative rate was 100%(715/715).Non chimeric chromosome abnormality detection rate was 15/15.Conclusions The multiple QF-PCR was a reliable method of detecting common chromosome aneuploidies for rapid prenatal diagnosis.As an important supplement of karyotype analysis , it was of great significance to optimize and improve the prenatal diagnosis system , and might provide more appropriate diagnostic methods for pregnant women.

Objective To analyze the hepatitis E virus (HEV) infection status and the molecular characteristics of HEV isolated from pregnant women in Zhejiang Province.Methods Totally 98 236 serum samples collected from pregnant women during the year 2013 to 2015 were tested for HEV IgM by enzyme-linked immunosorbent assay (ELISA) and samples positive for IgM were detected for nucleic acid of HEV by nested polymerase chain reaction (PCR).The whole gene of HEV open reading frame 2 (ORF2) was further amplified and the prevalence was analyzed in nucleic acid-positive samples.Results Three hundred and fifty-two out of 98 236 serum samples were tested positive for HEV IgM,with positive rate of 0.36％.All the samples were simple positive of HEV IgM except for two samples co-infected with hepatitis B virus.HEV specific nucleic acid fragments were detected positive from three serum samples.Further phylogenetic analysis revealed that all the three HEV isolates in this study belonged to HEV genotype 4.Three isolates did not cluster in one branch,although they shared high nucleic acid homology and more than 97 ％ of amino acid homology.Variations were found significantly between sample sequence and other published HEV 4 isolates,including two variable regions found in the ORF2 gene (1-460 nucleotide and 620-870 nucleotide).However,the synonymous and non-synonymous substitutions rates in the two regions were similar,and neutral selection was the main evolutionary pressure.Conclusions HEV infection rate in pregnant women of Zhejiang Province is similar with the published data.The HEV isolates obtained in this study belong to genotype 4 with high variation rate.

Objective:To evaluate the efficacy of individualized cognitive behavioral therapy for unprotected sex and sexual attitude of middle school students having unprotected sex.Methods:A target sample of 68 adolescents having unprotected sex was recruited from 4 secondary schools in Changsha,Hunan [the unprotected sex (US) score of Health-Risk Behavior Inventory for Chinese Adolescents (HBICA) ≥ 1].Subjects were randomized assigned to cognitive behavioral therapy group (CBT group) and control group.Each group had 34 subjects.The CBT group was giving one-on-one counseling for 6 weeks (50 to 60 minutes weekly).The control group didn't receive intervention by counselors.The US and Attitudes Toward Sexuality Scale (ATSS) were selected as criterion measurements.Outcome assessments were made at baseline and at 1-and 3-month follow-up.Results:The reduction rate of US scores showed that the response rate of therapy was over 80％.Mixed linear model analysis showed that there were significant group effect,time effect and group × time effect in scores of US and ATSS (Ps ＜ 0.05).Simple effect analysis indicated that the scores of US and ATSS of CBT group were significant lower than those of baseline from 1-month follow-up [(2.2 ± 2.9) vs.(4.7 ± 3.1),(3.2 ± 1.6) vs.(4.7 ± 3.1);(38.2 ± 4.9) vs.(40.9 ±5.1),(37.2 ±5.4) vs.(40.9 ±5.1),Ps ＜0.01],whereas the scores of those in the control group did not show any significant difference (Ps ＞0.05).At l-month and 3 month follow-up,moderate effect sizes were found for the CBT and control groups on all the outcome measures (Cohen's d =0.50-0.70).Conclusion:The individualized cognitive behavioral therapy could effectively reduce the level of unprotected sex and sexual attitude of adolescents having unprotected sex.

[Objective] To construct a database for the genetic polymorphism of 18 STR loci (D8S1179, D21S11, D7S820, CSFIPO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, PentaE, PentaD, SE33) in Hart population from Zhejiang province. To investigate the application of 18 STR loci in the field of paternity testing and prenatal diagnosis. [Methods] Fluorescent dye labeling multiplex STR-PCR, capillary electrophoresis and DNA sequencer GeneScan were adopted in genotyping 598 unrelated samples collected from Han population in Zhejiang province. 18-STR database was established and analyzed. Population comparison was conducted between Han population in Zhejiang province and 8 other population. 15-STR and 18-STR identification system were compared in 497 paternity testing cases. [Results] We observed the distribution of 18 STR loci in Han population meet Hardy-Weinberge equilibrium and was different from other 8 population (X~2 test, P>0.05). Statistical results showed that the heterozygosis (He) ranged from 0.630 to 0.942. The combined power of discrimination was>0.9999999999. Compared with 15-STR identification system, higher paternity index scores and higher exclusion rate were obtained with 18-STR identification system in dual-case paternity test and mutation identification. One trisomy 21 fetus was found in a prenatal paternity test case which had two characteristic genotypes in 2 STR loci of D21S11 and Penta D. [Conclusions] The 18 loci were relatively highly genetic polymorphic in Zhejiang Han population and could be used for paternity testing. Some STR loci could be used in prenatal diagnosis for aneuploidy.

Objective To evaluate the distribution of fetal abnormal chromosome karyotype in mid-pregnancy and analyse the possible misdiagnosis risks of molecular techniques in clinical prenatal diagnosis.Methods Fetal karyotype ( fetal cell collected from amniotic fluid ) in Prenatal Diagnosis Center of Zhejiang Province between 2001 and 2010 were retrospectively analyzed on distribution according to 7 different referral indication:positive screening for trisomy 21, trisomy 18, advanced maternal age , abnormal history of pregnancies , abnormal family history , fetal structural abnormalities and others.The combination of trisomy 21, trisomy 18 and trisomy 13 ( T21/18/13 Group) and the aneuploidies of chromosome 21, 18, 13, X, Y (21/18/13/X/Y Group) were further analyzed based on the current molecular target detection range.Results There were 462 cases out of 12 481 with chromosomal abnormality (3.60%, 462/12 841), with 215 cases of high risk (detection rate 1.67%, 215/12 841) and 247 cases of low risk (detection rate 1.92%, 247/12 841).Under different indications , the detection rate on abnormal chromosome of high risk (high-risk CA) is different,“abnormal fetal ultrasound” is the highest(27.27%,24/88).Among the high-risk CA, T21/18/13 Group accounted for 72.56%(156/215), while the 21/18/13/X/Y Group accounted for 94.88%(204/215).For the 7 regular indications , the high-risk CA distribute different;Except the T21/18/13 Group and 21/18/13/X/Y Group, the rates of other abnormal chromosome karyotype in the high risk CA were 0.28%( 2/719 )-12.5%( 11/88 ) and 0.06%( 4/6 915 )-1.14%( 1/88 ) according to different indication, respectively.Conclusions The distribution of abnormal karyotype were different under different referral indication;the detection power and possible misdiagnosis risks were varied under different indication for each molecular technique.It was suggested that doctors should select suitable molecular technique according to different clinical indications and each molecular method has its own limitations .

Objective This study analyzed the expression of alpha-hydroxybutyrate dehydrogenase (α-HBDH) in serum and explored its predicative value in the diagnosis of ovarian cancer (OC). Methods A retrospective study was conducted on 319 OC patients (OC group), 400 patients with benign lesions (benign group), and 400 healthy controls (normal group). These subjects were treated or received physical examination in Women's Hospital, School of Medicine, Zhejiang University from January 2014 to August 2018. Each group was further stratified by menopausal status. The expression levels ofα-HBDH and carbohydrate antigen125 (CA125) and their associations with clinic-pathological characteristics of OC were evaluated, and their diagnostic efficacy in OC were explored. Wilcoxon Rank Test and Kruskal-Wallis H test were used for group comparison. Receiver operating curve(ROC) was plotted to evaluate the diagnostic capability of α-HBDH and CA125 in OC. Results The median of α-HBDH level was 134.0 U/L in OC group, 120.0 U/L in benign group, and 110.0 U/L in normal group. OC group was significantly different from other two groups (H=129.5, P<0.001). Serumα-HBDH was also correlated with the menopausal status, lymph node metastasis, and clinical stage of OC patients significantly(Z=-5.2, H=31.5,Z=-3.2,all P<0.001). In the ROC analysis in terms of OC risk, the area under curve (AUC) ofα-HBDH was lower than AUC of CA125 [premenopausal group (α-HBDH: AUC=0.685; CA125: AUC=0.796;menomenopausal group (α-HBDH:AUC=0.749;CA125:AUC=0.915)];and in the stage I of premenopausal group, α-HBDH performed similar to CA125, but with obviously higher sensitivity than CA125 (α-HBDH:AUC:=0.646, Se=79.41％, SP=41.61％;CA125:AUC=0.691, Se=58.82％, Sp=74.71％). Conclusions The expression level of serum α-HBDH level was increased in OC patients, and it was associated with menopausal stage, lymph node metastasis, and clinical stage of OC. In addition, α-HBDH showed higher sensitivity than CA125 in stage I premenopausal group, which was potentially beneficial for the diagnosis of stage I OC in premenopausal women.

Prenatal screening has undergone from simple age screening, serological prenatal screening, multiple serological screening, to combined screening with cell-free fetal DNA in maternal blood (non-invasive prenatal testing, NIPT). prenatal screening plays an important role in the detection and prevention of birth defects, such as chromosomal abnormalities and open neural tube defects(ONTD). With the emergence of NIPT technology, serological test result in prenatal screening has been outgrowth from the functional surrogate of the development status of fetus and placenta to the predictors of pre-eclampsia and fetal growth retardation(FGR). Therefore, large scale screening program will further improve maternal safety and reduce birth defects.

OBJECTIVE: To investigate the anatomical influence of the hypertrophic inferior turbinate on computational fluid dynamics (CFD) model of unilateral hypertrophic inferior turbinate nasal cavity, and to analyze the bilateral detailed nasal airflow simulations under both inspiratory and expiratory phases in CFD model. METHOD: One male volunteer troubled with unilateral hypertrophic inferior turbinate accepted CT scan. CFD model was built by CT scans through Simplant 10.0 and ANSYS ICEM. Fluent 6.3.26 simulated the airflow of both nasal cavity in breathing rates 200 ml/s. RESULT: 1) In infraturbinal region, the cross-section area (CSA) of the nasal cavity with hypertrophic inferior turbinate was smaller than that in healthy side and the average area difference between two sides was 1.62 cm2. 2) In both inspiration and expiration phases, the hypertrophic infraturbinal produced a markable reduction in intranasal pressures drop along the full length of the infraturbinal region. The volumetric flow rate in the hypertrophic infraturbinal side was 50 ml/s, which equalled to one third of that in healthy side; Mean air speed in the anterior valve region was estimated to be 0.57 m/s at hypertrophic infraturbinal side and 1.83 m/s at healthy side during inspiration; More vortices happened in the hypertrophic infraturbinal side. CONCLUSION The unilateral hypertrophic infraturbinal change the normal anatomy and influence the aerodynamic of nasal cavity, which is harmful to the functions of human nasal in ventilation, temperature accommodation and olfactory sensation.
Adult ; Computer Simulation ; Humans ; Hydrodynamics ; Hypertrophy ; physiopathology ; Male ; Models, Anatomic ; Nasal Cavity ; physiology ; physiopathology ; Nasal Obstruction ; physiopathology ; Tomography, X-Ray Computed ; Turbinates ; physiology ; physiopathology

TORCH, represented by the Toxoplasmosis, Rubella virus, Cytomegalovirus, Herpes simplex virus or Human Parvovirus B19, is considered as a series of pathogens which might lead to the miscarriage, premature birth, teratogenesis, stillbirth, intrauterine growth retardation or multiple-organic damage in newborns. Serological examination of the pathogen-specific antibodies, including IgM and IgG, is currently the foremost laboratorial strategy for clinical laboratory of TORCH. Although the serum-IgM level often indicates the acute infection period of patients and is of the great clinical concern, the combination of different strategies, such as immunological methods or clinical manifestations is valuable to ensure the accuracy and specificity. Normative TORCH serological screening and systematic laboratory testing can assist pre-pregnancy guidance and fetal risk assessment during pregnancy, help to prevent the pregnancy risks and reduce the birth defects.