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Gestational diabetes mellitus (GDM) is characterized by glycemia and insulin disorders. Bile acids (BAs) have emerged as vital signaling molecules in glucose metabolic regulation. BA change in GDM is still unclear, which exerts great significance to illustrate the change of BAs in GDM. GDM patients and normal pregnant women were enrolled during the oral glucose tolerance test (OGTT) screening period. Fasting serums were sampled for the measurement of BAs. BA metabolism profiles were analyzed in both pregnant women with GDM and those with normal glucose tolerance (NGT). Delivery characteristics, delivery gestational age, and infant birthweight were extracted from medical records. GDM patients presented distinctive features compared with NGT patients, including higher body mass index (BMI), elevated serum glucose concentration, raised insulin (both fasting and OGTT), and increased hemoglobin A1c (HbA1c) levels. Higher homeostasis model assessment of insulin resistance (HOMA-IR) and decreased β-cell compensation (i.e., oral disposition index (DI
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Methods:A total of 1 152 amniotic fluid samples were collected from pregnant women who underwent prenatal diagnosis in the Nanjing Maternity and Child Health Care Hospital, Women′s Hospital School of Medicine Zhejiang University, West China Second University Hospital, Sichuan University/West China Women′s and Children′s Hospital, and Xiamen Maternal and Child Health Hospital from September 2014 to August 2016. These samples were examined with SD-HRM and karyotyping simultaneously. Clinical sensitivity and specificity of SD-HRM were calculated, and Kappa values were measured to evaluate the consistency of detection results of the two methods.Results:A total of 161 cases of trisomy 21, 60 cases of trisomy 18, and 5 cases of trisomy 13 were detected by SD-HRM in 1 152 prenatal samples, sensitivity and specificity were both up to 100%, and Kappa values is equal to 1 which were consistent with the results of karyotype analysis.Conclusion:SD-HRM is validated to be highly accurate for the prenatal diagnosis of common trisomies, which is promising in the clinical practice.
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TORCH, which is considered as a series of pathogens, including the Toxoplasma gondii, Rubella virus, Cytomegalovirus or Herpes simplex virus, often infects the pregnant women to induce the the fetus or newborn infection by transplacental infection or exposure to contaminated genital tract secretions at delivery. Increasing evidence have been confirmed that the infection of TORCH may cause the miscarriage, premature birth, malformed fetus, stillbirth, intrauterine growth retardation, neonatal multiple organ dysfunction and other adverse pregnancy outcomes. For most TORCH-infections cases may lacking the effective treatments during pregnancy, and it is important to achieve the effacing monitoring of TORCH infections before and during pregnancy. The laboratory testing of TORCH has the great significance. However, the consensus opinions still need to improve the the standardization of TORCH testing process and the correct interpretation. Based on the characteristics of the TORCH detection method, this article gives a consensus opinion on the standardized detection and clinical application of TORCH from the laboratory perspective according to the characteristics and types of infection of different pathogens.
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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.
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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.
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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.
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Objective To identify Mobiluncus species with matrix-assisted laser desorption/ioniza-tion time-of-flight mass spectrometry (MALDI-TOF MS) and 16S rRNA gene sequencing and to analyze anti-biotic resistance genes and phylogenetic relationships among Mobiluncus species with whole genome sequen-cing. Methods Twenty-five Mobiluncus strains were isolated after anaerobic culture of 65 vaginal secretion samples of patients with bacterial vaginosis (BV) and identified to species level by MALDI-TOF MS and 16S rRNA gene sequencing. The whole genome DNA of each strain was extracted for next-generation sequencing. SPAdes was used to assembly genomes. Resistance genes were searched in ARGD database. The core ge-nome of all isolates was analyzed by Harvest to construct phylogenetic tree. Results MALDI-TOF MS could only identify Mobiluncus curtisii, while 16S rRNA gene sequencing could identify both Mobiluncus mulieris and Mobiluncus curtisii. Results of the whole genome sequencing showed that tetracycline resistance gene tet ( o) and macrolides resistance gene erm(x) were the two predominant acquired resistance genes of Mobilun-cus with a positive rate of 84. 7% and 61. 5% respectively. Intra-species relationships of the two Mobiluncus species were close, but a distant phylogenetic relationship was found between the two species. Conclusion This study shows that MALDI-TOF MS can't be used to identify Mobiluncus mulieris at present. Mobiluncus strains have potential resistance to tetracycline and macrolides. Intra-species evolution of Mobiluncus is slow, which indicates that there is no growing trend towards new species for the time being.
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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.
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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.
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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 .
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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.
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[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.