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OBJECTIVE@#To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis.@*METHODS@#A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq).@*RESULTS@#The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord.@*CONCLUSION@#The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.
Subject(s)
Child , Pregnancy , Female , Humans , Trisomy/genetics , Trisomy 18 Syndrome/genetics , Placenta , DNA Copy Number Variations , Prenatal Diagnosis/methods , Chromosome Disorders/genetics , AneuploidyABSTRACT
Objective To study the function of X -1 2 -ARIMA model in analysis on incidence trend of typhoid. Methods Secular trend,seasonal periodicity and random fluctuations of the monthly morbidity data in Zhejiang province from 2005 to 201 3 were analyzed by X -1 2 -ARIMA model.Results The seasonal fluctuation showed a narrowing trend year by year during 2005 to 201 3.After September,2007,the incidence of typhoid showed a downward trend.After 2008,the annual peak of incidence changed from August to July.The irregular factor may well represent the outbreak. Conclusion The X -1 2 -ARIMA model showed clear secular trend and seasonal periodicity,and the random fluctuation was of great value.
ABSTRACT
<p><b>OBJECTIVE</b>To analyze and evaluate the application of China Infectious Diseases Automated-alert and Response System(CIDARS)in Zhejiang province.</p><p><b>METHODS</b>Data through the monitoring program in 2012 was analyzed descriptively and compared with the incidence data in the same period as well information related to public health emergency events.</p><p><b>RESULTS</b>A total of 14 292 signals were generated on 28 kinds of infectious diseases in the system, in Zhejiang province. 100% of the signals had been responded and the median time to response was 0.81 hours. 123 signals (0.86%)were preliminarily verified as suspected outbreaks and 33 outbreaks were finally confirmed by further field investigation, with a positive ratio of 0.23% . Information related to regional distribution showed significant differences which reflecting a positive correlation between the numbers of diseases and the time of early-warning(r = 0. 97, P < 0.01). Distribution of information related to different types of diseases was also significantly different, showing a positive correlation between the prevalent strength of the disease and the amount of information in a specific area(r = 0.80, P < 0.01).</p><p><b>CONCLUSION</b>CIDARS had a good performance which could be used to assist the local public health institutions on early detection of possible outbreaks at the early stage. However, the effectiveness was different for different regions and diseases.</p>