The value of non-invasive prenatal testing for the identification of numerical and structural chromosomal abnormalities and copy number variations in the fetuses / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variations (CNVs) in fetuses.@*METHODS@#46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People's Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis.@*RESULTS@#Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNVs were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNVs (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77).@*CONCLUSION@#NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNVs, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.

Appraisal of clinical experimental articles of interventional radiology in the Chinese Journal of Radiology / 中华放射学杂志

Objective AccordingtothestandardofCochranehandbook (manual)weperformed statistics,analysis,andappraisalonatotalof 2 0volumes 15 8issuesofChineseJournalofRadiologyfrom 1980to 1999.Methods 2 0volumes 15 8issuesofChineseJournalofRadiologywereconsultedbyclinicalexpertstrained byChineseCochraneCenter,therelativerandomizedcontrolledtrial (RCT)andcontrolledclinicaltests (CCT) articleswereconsultedonebyonemanually .Results Withincreasingyears,thepercentageofRCTandCCT articlesaccountingforallclinicalexperimentalarticleswasincreasinggradually .BothRCTandCCTwere 0 %at early 80thandincreasedto 2 .17%and 7.97%respectivelyattheendof90th .Conclusion Theinvestigation levelofclinicalinterventionaltreatmentexperimentalarticlesisimprovinggradually ,butthepercentageofRCTand CCT :Forclinicaltreatmentexperimentalarticlesisstillnothighenough ,thedesign ,implementationandanalysis ofRCTarenotstandardizedsothatproblemsstillexistintermsofconfidenceofresult.