ABSTRACT
Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.
Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Cell-Free Nucleic Acids/genetics , Consensus , DNA Copy Number Variations , High-Throughput Nucleotide Sequencing , Prenatal DiagnosisABSTRACT
ObjectiveTo investigate the changes in positive staining of CD34, CK7, and CK19 and amount of fibrous collagen deposition in patients with chronic hepatitis B (CHB) and the pathological basis affecting FibroTouch measurements. MethodsA retrospective analysis was performed for the clinical data of 72 CHB patients who visited Department of Liver Cirrhosis in Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine from January 2015 to December 2017. The amount of positive immunohistochemical staining of CD34, CK7, and CK19 was calculated, as well as the amount of fibrous collagen deposition in Masson trichrome staining and liver stiffness measurement (LSM) by FibroTouch. The t-test was used for comparison of normally distributed continuous data between two groups. The Wilcoxon rank-sum test was used for comparison of non-normally distributed continuous data or continuous data with heterogeneity of variance between two groups. The chi-square test was used for comparison of categorical data between groups, and the Kruskal-Wallis H test was used for comparison of ranked data between multiple groups. The receiver operating characteristic (ROC) curve was used to analyze the value of LSM in the diagnosis of hepatitis B cirrhosis, and the logistic regression model was used for multivariate analysis. ResultsWith the increase in inflammation degree, there was no significant change in the amount of positive staining of CD34 (P＞0.05), while there were significant increases in the amount of positive staining of CK19 and the amount of fibrous collagen deposition (H=9.02 and 14.12, P=0011 and 0.001). With the progression of liver fibrosis, there were significant increases in the amount of positive staining of CD34 and CK7 and the amount of fibrous collagen deposition (H=10.26, 16.29, and 22.97, P=0.016, 0.001, and ＜0.001). The logistic regression analysis showed that the amount of positive staining of CK7 (Wald=4.756, P=0.029) and the amount of fibrous collagen deposition (Wald=4.757, P=0.029) were independent influencing factors for FibroTouch measurements. ConclusionIncreases in the amount of fibrous collagen deposition and the amount of positive staining of CK7 may lead to increased FibroTouch measurements.
ABSTRACT
Liver pathology is the gold standard for the diagnosis of chronic hepatitis.Although there are many effective noninvasive diagnostic methods,liver pathology is still the most direct and reliable method for evaluating inflammation and fibrosis in patients with chronic hepatitis.The classification system for liver pathology has been also constantly changing,so as to provide more accurate information of grading and staging and to guide clinical and scientific research.This article reviews the development of classification systems for liver pathology,the basic criteria and disadvantages of each major classification system,and the prospects of pathological classification systems for chronic hepatitis.