Objective: To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. Methods: The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies. Results: Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up. Conclusion: NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.

Objective Through the detection of circular RNA (circRNA) using expression profiling chips, we searched for circRNAs related to acute myocardial infarction (AMI) and explored their relationship and possible mechanisms with AMI. Method The study subjects included 3 AMI patients and 3 controls, and circRNA expression profiling analysis was performed using a microarray gene chip to identify circRNAs with large differences in expression between groups and to construct a circRNA‐miRNA network. Results Compared with the control group, there were 650 differentially expressed circRNAs found in AMI patients (P < .05, fold change > 2), including 535 up‐regulated circRNAs, such as hsa_circ_0050908, hsa_circRNA4010‐22, hsa_circ_0081241, hsa_circ_0010551, hsa_circRNA4010‐20, hsa_circRNA14702, hsa_circ_0115392, has_circRNA1825‐44, has_circRNA8493‐7, and hsa_circ_0025097. Furthermore, there were 115 down‐regulated circRNAs, such as hsa_circ_0066439, hsa_circ_0054211, hsa_circ_0095920, hsa_circ_0122984, hsa_circ_0113067, hsa_circ_0039155, hsa_circRNA4014‐45, hsa_circ_0122979, hsa_circ_0059665, and hsa_circ_0009319. The circRNAs hsa_circ_0066439, hsa_circ_0081241, and hsa_circ_0122984 can regulate multiple signal pathways to participate in the AMI process through hsa‐miR‐1254, hsa‐miR‐328‐5p, and other miRNAs. In addition, the expression of circRNA‐miRNA in peripheral blood is related to the network. Differentially expressed circRNAs are involved in chromatin organization, chromatin‐modifying enzymes, signal transduction, lysine degradation, the mitogen‐activated protein kinase (MAPK) signaling pathway, focal adhesion, and a variety of other pathways, such as myocardial infarction, coronary heart disease, hypertension, and other diseases. The gene ontology analysis results show that molecular function mainly involves binding and molecular structural activity, whereas the biological process mainly involves a single biological process, a cellular component for organization, and a cellular process, and the cellular component mainly involves a protein complex, an extracellular matrix, and a membrane. Conclusion circRNA and microRNA interact to participate in the development of AMI. circRNA may be involved in the pathogenesis of AMI.

Xpert MTB/RIF, IGRA, TNF-α, and TGF-βs expression have value in the rapid diagnosis of bone and joint tuberculosis, and the sensitivity and accuracy of bone and joint tuberculosis diagnosis by combining them can improve it.