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Objective:To analyze the clinical phynotypes of fetuses with 22q11.2 microduplications.Method:Eleven fetuses were diagnosed with 22q11.2 microduplications among 2 969 cases who underwent prenatal chromosomal microarray analysis from January 2016 to February 2020. The phenotypes, indications for invasive prenatal diagnosis, genetic results, pregnancy outcomes and postnatal clinical presentation were analyzed.Results:There were 6 cases diagnosed with classic 3.0 Mb microduplication (DiGeorge and velocardiofacial syndromes, DGS/VCFS) in the 22q11.2, 1 case with 1.5 Mb proximal microduplication and 4 cases with distal small segment microduplication (E-H). Out of 11 fetuses with 22q11.2 microduplications,7 cases were inherited, 2 cases was de novo and data were not available for 2 cases. Vicular septal defect and anencephalu were diagnosed by ultrasonography in 2 cases,fetal growth restriction was diagnosed in 2 cases,no any abnormalities were found in remaining 7 cases. Seven cases(3 cases of classic 3.0 Mb microduplication, 1 case of proximal microduplication and 3 cases of distal small segment microduplication) were delivered at full-term;and pregnancy was terminated in 4 cases. Seven infants were followed up after birth, 4 infants were normal, 3 showed abnormal phenotypes.Conclusion:The clinical phenotypes after birth of fetuses with 22q11.2 microduplication are diverse. Prenatal genetic counseling is necessary,so that pregnant women and their families can fully understand the possible clinical phenotypes and make informed choices.
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OBJECTIVE@#To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development.@*METHODS@#Clinical data of 17 fetuses with skeletal dysplasia was collected. The results of genetic testing and outcome of pregnancy were analyzed.@*RESULTS@#For 12 fetuses, the femur-to-foot length ratio was less than 0.9. Thirteen fetuses had a positive finding by genetic testing. One fetus was diagnosed with chromosomal aneuploidy, three were diagnosed with microdeletion/microduplications, and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3, COL1A2, GPX4 or ALPL genes.@*CONCLUSION@#For fetuses with skeletal dysplasia characterized by short femur, in addition to chromosomal karyotyping and microarray analysis, sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.
Subject(s)
Female , Humans , Pregnancy , Bone Diseases, Developmental/genetics , Fetus/diagnostic imaging , Genetic Testing , Karyotyping , Prenatal Diagnosis , Receptor, Fibroblast Growth Factor, Type 3/genetics , Ultrasonography, PrenatalABSTRACT
OBJECTIVE: To evaluate the therapeutic effects of Chinese materia medica in treating patients with different syndromes by tongue image analysis software 1.0 based on tongue colors, and to discuss the feasibility of applying this computer science-based techniques into drug evaluation. METHODS: The tongue colors and the areas of tongue fur were examined and analyzed by the tongue image analysis software 1.0 in healthy persons and the patients with different syndromes before and after treatment. The parameters of tongue colors consisted of the followings: the hue (H), the lightness (L), the saturation (S), and the values of red (R), green (G) and blue (B). RESULTS: Obvious differences could be revealed in tongue color index between the healthy persons and the patients in five groups of different syndromes. There also existed some significant differences in those index between patients before and after treatment. CONCLUSION: The tongue image analysis software 1.0 based on tongue colors is helpful to evaluate the therapeutic effects of Chinese materia medica.
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The paper studies and explores such issues as the concept of teaching in both English and Chinese and the conditions that should be available for bilingual teaching of medicine in 8-year program in universities and some mistakes that should be avoided.Just as the 8-year medical program in medical universities and colleges has been the result of reform and innovation in both system and mentality of medical education in China,bilingual teaching in medicine will also require our new ideas and pioneering spirit.