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Abstract@#Hypertensive disorders of pregnancy (HDP) are a common severe complication during pregnancy, which is characterized by complex etiology, unclear pathogenesis and lack of effective tools for early diagnosis and prediction. Recently, the development of omics technology provides new insights into the research into HDP. Based on national and international publications from 2011 to 2022, this review summarizes the application of genomics, proteomics, metabolomics, and microbiomics in the pathogenesis and prediction of HDP, so as to provide insights into the prediction, prevention and precise treatment of HDP.
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OBJECTIVE@#To carry out optical genome mapping (OGM) for a Chinese pedigree with a rare paracentric reverse insertion of chromosome 17.@*METHODS@#A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women's Hospital in October 2021 and her family members were selected as the study subjects. Chromosome G banding analysis, fluorescence in situ hybridization (FISH), single nucleotide polymorphism array (SNP array) and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.@*RESULTS@#Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus. Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal, whilst SNP array has detected no abnormality. OGM revealed that the woman has carried a paracentric reverse insertion, which was confirmed by FISH. The karyotype of her husband was normal.@*CONCLUSION@#The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother. OGM has the advantage for delineating balanced chromosome structural abnormalities.
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Pregnancy , Humans , Female , Pedigree , In Situ Hybridization, Fluorescence , Chromosomes, Human, Pair 17/genetics , East Asian People , Chromosome Aberrations , Prenatal Diagnosis , Chromosome Mapping , Chromosome InversionABSTRACT
Objective:To access the effect of maternal cell contamination (MCC) on the detection of copy number variation (CNV) by chromosome microarray analysis (CMA) in prenatal diagnostic samples.Methods:Amniotic fluid DNA samples were collected from Department of Prenatal Diagnosis (Screening) Centre of Hangzhou Women′s Hospital from December 2016 to August 2018. Copy number variations (CNVs) were identified in these DNA samples by CMA and normal female genomic DNA was added to simulate different proportions of maternal cells contamination. The simulated samples were tested using an Agilent microarray chromosome chip 180K CGH (Agilent 180K CGH) and the results were analyzed by Agilent CytoGenomics software.Results:The results showed that duplications of CNV could not be detected at >38.4% MCC. Deletions of CNV could not be detected at >41.3% of MCC. With the increase of MCC ratio, the detection rate of CNV decreased gradually. The array and software allowed detection of longer copy-number variations at higher levels of maternal cell contamination than shorter copy-number variations. For the same size CNV, the detection ability of the deleted CNV was slightly higher than that of duplication. In the male sample, the observable shift of the X/Y chromosome ratio at >10% MCC can be detected by the microarray. Conclusions:When the MCC is higher than a particular ratio, it can affect the CMA detection of CNV. Based on the Agilent 180K CGH detection results for MCC mimics and the CNV detection specificity principle, the MCC threshold of the Agilent 180K CGH is set to 30% in view of conservative principles.
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Objective@#To access the effect of maternal cell contamination (MCC) on the detection of copy number variation (CNV) by chromosome microarray analysis (CMA) in prenatal diagnostic samples.@*Methods@#Amniotic fluid DNA samples were collected from Department of Prenatal Diagnosis (Screening) Centre of Hangzhou Women′s Hospital from December 2016 to August 2018. Copy number variations (CNVs) were identified in these DNA samples by CMA and normal female genomic DNA was added to simulate different proportions of maternal cells contamination. The simulated samples were tested using an Agilent microarray chromosome chip 180K CGH (Agilent 180K CGH) and the results were analyzed by Agilent CytoGenomics software.@*Results@#The results showed that duplications of CNV could not be detected at>38.4% MCC. Deletions of CNV could not be detected at>41.3% of MCC. With the increase of MCC ratio, the detection rate of CNV decreased gradually. The array and software allowed detection of longer copy-number variations at higher levels of maternal cell contamination than shorter copy-number variations. For the same size CNV, the detection ability of the deleted CNV was slightly higher than that of duplication. In the male sample, the observable shift of the X/Y chromosome ratio at>10% MCC can be detected by the microarray.@*Conclusions@#When the MCC is higher than a particular ratio, it can affect the CMA detection of CNV. Based on the Agilent 180K CGH detection results for MCC mimics and the CNV detection specificity principle, the MCC threshold of the Agilent 180K CGH is set to 30% in view of conservative principles.
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[Objective] To investigate the relation among the polymorphism of interleukin-8 (IL-8) gene A-251T and apolipoprotein E (ApoE) gene with late-onset Alzheimer's disease (LOAD). [Methods] Polymerase chain reaction and restrietive fragment length polymorphism (PCR-RFLP) were used to detect the polymorphism distribution of IL-8 gene A-251T and ApoE gene of 185 people in Han ethnicity of Guangdong province (study group: 88 LOAD patients, eontrolled group: 97 people). The correlation of these genes was analyzed. [Results] (1) The differences of genotypes and alleles of IL-8 gene A-251T between study group and controlled group had no statistical significance. (2) The frequency of ApoE 64 allele in study group was significantly higher than that in controlled group, as risk factor of LOAD (OR=2.272, P=0.003). (3) Study group and controlled group were both divided into two groups by carrying ApoE ε4 allele or not. The differenees of IL-8 genotypes were no significant whether in carrying ApoE ε4 allele group or not (carrying ε4 group: P=0.965; no carrying ε4 group: P=0.523). [Conclusion] It is suggested that lL-8 gene A-251T polymorphism perhaps has no relation with LOAD and has no interaction with ApoE ε4 allele.
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Ubjective To evaluate the clinical effects of Xuesetong injecfion combined with Low-molecular-weight Heparin (LMWH) on the treatment of acute cerebral infarction (ACI).Methotis 101 cases of ACI pafiens were randomly divided into three groups:a group one with thirty-three patients were treated only with 5000 IU LMWH twice daily subcutaneously;a group two with thirty-four patients were treated with only 400 mg Xuesetong injection,one daily by intravenous drip;and a group thtee with thirty-four patients were treated with enoxaparin and Xuesetong injection.All the three groups were treated for 14 days.Impaired neurological function score,blood routine,functions of liver and kidney,blood coagulating funcfion were examined before and after the treatment.Results Significant effective rate and the effective rate of the group three were 71%and 91%respectively,higher than the other two groups(P＜0.05 or P＜0.01).No severe adverse reactions were found after the treatment.Conclusion Enoxaparin combined with Xuesetong injection is an effective regimen for the treatment of acute cerebral infarction.
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Objective To study the clinical characteristics of acute asthma during pregnancy,focusing on management of pregnant women presenting with an acute exacerbation.Methods A prospective observational study was conducted in 30 cases of acute exacerbations during pregnancy.Results The prognosis of 25 patients with mild or moderate asthma was good for both mother and fetus;none had severe complications.Among 5 women who had severe exacerbations,there were 4 pulmonary co-infections,1 with respiratory acidosis,1 with respiratory acidosis plus metabolic allkalosis,and 4 with fetal growth-restriction.Conclusions,This study highlights that pregnancy can worsen asthma control in some women.Effective management and prevention of asthma exacerbations during pregnancy is key to ensuring the safety of the mother and the fetus.