Background: Gestational diabetes mellitus (GDM) is a common complication in pregnancy that poses a serious threat to the health of both mother and child. While the specific etiology and pathogenesis of this disease are not fully understood, it is thought to arise due to a combination of insulin resistance, inflammation, and genetic factors. Circular RNAs (circRNAs) are a special kind of non-coding RNA that have attracted significant attention in recent years due to their diverse activities, including a potential regulatory role in pregnancy-related diseases, such as GDM. Methods: We previously reported the existence of a novel circRNA, hsa_circ_0005243, which was identified by RNA sequencing. In this study, we examined its expression in 20 pregnant women with GDM and 20 normal pregnant controls using quantitative reverse transcription PCR analysis. Subsequent in vitro experiments were conducted following hsa_circ_0005243 knockdown in HTR-8/SVneo cells to examine the role of hsa_circ_0005243 in cell proliferation and migration, as well as the secretion of inflammatory factors such as tumor necrosis factor alpha (TNF-α) and interleukin 6 (IL-6). Finally, we examined the expression of β-catenin and nuclear factor kappa-B (NF-κB) signaling pathways to assess their role in GDM pathogenesis Results: Expression of hsa_circ_0005243 was significantly reduced in both the placenta and plasma of GDM patients. Knockdown of hsa_circ_0005243 in trophoblast cells significantly suppressed cell proliferation and migration ability. In addition, increased secretion of inflammatory factors (TNF-α and IL-6) was observed after hsa_circ_0005243 depletion. Further analyses showed that knockdown of hsa_circ_0005243 reduced the expression of β-catenin and increased nuclear NF-κB p65 nuclear translocation. Conclusions: Downregulation of hsa_circ_0005243 may be associated with the pathogenesis of GDM via the regulation of β-catenin and NF-κB signal pathways, suggesting a new potential therapeutic target for GDM.

Background 22q11.2 deletion/duplication syndrome has a high incidence in prenatal fetuses and cause variety of severe abnormalities. At present, screening for 22q11.2 deletion/duplication syndrome in fetuses is difficult because of the lack of effective targeted programs. Methods In this study, six detection sites and their corresponding probes were designed in the 22q11.2 recurrent region, and a dPCR assay for noninvasive screening of 22q11.2 deletion/duplication syndrome was established. A total of 106 plasma samples from pregnant women (including ten samples with fetal 22q11.2 deletion/duplication syndrome) were blindly tested to evaluate the sensitivity and specificity of the assay. Results DNA with different sizes of 22q11.2 deletion/duplication was detected by dPCR, indicating that these probes and detection site designs were reasonable and effective. In the retrospective clinical samples of the cffDNA assay, eight out of ten samples of pregnant women with 22q11.2 deletion/duplication were detected, and accurate regional localization was achieved. Of the 96 normal samples, 93 were confirmed. Receiver operating characteristic curves were used to assess the cut-off values and AUC for these samples. The sensitivity, specificity, and positive as well as negative predictive values were 80%, 96.9%, 72.7%, and 97.9%, respectively. Conclusion The cffDNA assay based on dPCR technology for noninvasive detection of 22q11.2 recurrent copy number variants in fetuses can detect most affected cases, including smaller but relatively common nested deletions, with a low false-positive rate. It has the potential to provide an efficient and simple dPCR assay for noninvasive screening of 22q11.2 deletion/duplication syndrome.