Presence of cell-free fetal circRNA in maternal plasma

Ran, Yuxin; Chen, Ruixin; Zhao, Yangyu; Yin, Ning; Qi, Hongbo

doi:10.5114/aoms/146204

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…To further improve the accuracy of NIPT in prenatal aneuploidy screening, many scholars have explored various aspects of bioinformatics technology and software engineering to improve the technology [ 41 , 42 ]. Domestic scholars have found that cffRNA is more stable in maternal circulation [ 43 ]. Although NIPT has many clear advantages, the introduction of NIPT into routine antenatal care in many countries has also raised a number of ethical issues [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports

Wei

Zhang

Shi³

et al. 2023

BMC Pregnancy Childbirth

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Background NIPT is becoming increasingly important as its use becomes more widespread in China. More details are urgently needed on the correlation between maternal risk factors and fetal aneuploidy, and how these factors affect the accuracy of prenatal aneuploidy screening. Methods Information on the pregnant women was collected, including maternal age, gestational age, specific medical history and results of prenatal aneuploidy screening. Additionally, the OR, validity and predictive value were also calculated. Results A total of 12,186 analysable karyotype reports were collected with 372 (3.05%) fetal aneuploidies, including 161 (1.32%) T21, 81 (0.66%) T18, 41 (0.34%) T13 and 89 (0.73%) SCAs. The OR was highest for maternal age less than 20 years (6.65), followed by over 40 years (3.59) and 35–39 years (2.48). T13 (16.95) and T18 (9.40) were more frequent in the over-40 group (P < 0.01); T13 (3.62/5.76) and SCAs (2.49/3.95) in the 35–39 group (P < 0.01). Cases with a history of fetal malformation had the highest OR (35.94), followed by RSA (13.08): the former was more likely to have T13 (50.65) (P < 0.01) and the latter more likely to have T18 (20.50) (P < 0.01). The sensitivity of primary screening was 73.24% and the NPV was 98.23%. The TPR for NIPT was 100.00% and the respective PPVs for T21, T18, T13 and SCAs were 89.92, 69.77, 53.49 and 43.24%, respectively. The accuracy of NIPT increased with increasing gestational age (0.81). In contrast, the accuracy of NIPT decreased with maternal age (1.12) and IVF-ET history (4.15). Conclusions ①Pregnant patients with maternal age below 20 years had higher risk of aneuploidy, especially in T13; ②A history of fetal malformations is more risky than RSA, with the former more likely to have T13 and the latter more likely to have T18; ③Primary screening essentially achieves the goal of identifying a normal karyotype, and NIPT can accurately screen for fetal aneuploidy; ④A number of maternal risk factors may influence the accuracy of NIPT diagnosis, including older age, premature testing, or a history of IVF-ET. In conclusion, this study provides a reliable theoretical basis for optimizing prenatal aneuploidy screening strategies and improving population quality.

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Section: Discussionmentioning

confidence: 99%

Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports

Wei

Zhang

Shi³

et al. 2023

BMC Pregnancy Childbirth

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“…Finnish scholars systematically evaluated the commonly used computer algorithms from the perspective of software engineering, and summarized the shortcomings of each algorithm in order to better apply clinical work [33]. Chinese scholars have found that a more stable cffRNA in the maternal circulation [34]. Although NIPT has many obvious advantages in most cases, the introduction of NIPT into routine antenatal care in many countries has also caused some ethical problems [35].…”

Section: Discussionmentioning

confidence: 99%

Effects of Maternal Factors on Fetal Aneuploidy and Reliability of Screening: A Cohort Study Based on 12,186 Karyotype Reports

Wei

Zhang²,

Shi³

et al. 2022

Preprint

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Objective Retrospective analysis of maternal risk factors for fetal aneuploidy and evaluation of the clinical value of prenatal screening.Methods The information of pregnant women was collected, and the OR value, authenticity index and prediction value index were calculated.Results A total of 12,186 analysable karyotype reports were collected, and 372 cases(3.05%) of fetal aneuploidy were found, including T21 161 cases(1.32%), T18 81 cases(0.66%), T13 41 cases(0.34%), and SCAs 89 cases(0.73%). Maternal age <20 years old has the highest OR(6.65), followed by ≥40(3.59) and 35-39(2.48). History of fetal malformation has the highest OR(35.94), followed by IVF-ET(17.04) and RSA(13.08). The sensitivity of the preliminary screening was 73.24%, and the NPV was 98.23%. The TPR of NIPT was 100.00%, and the PPV for T21, T18, T13, and SCAs was 89.92%, 69.77%, 53.49%, and 43.24%. The reliability of NIPT and gestational age(0.81) are positively correlated, while had a negative correlation with maternal age(1.12) and the history of IVF-ET.Conclusion Our results support the correlation between maternal risk factors and fetal aneuploidy & reliability of screening. The above conclusions provide a reliable theoretical basis for developing prenatal screening strategies and improving reproductive health.

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“…The total RNA of plasma was extracted using TRIzol Reagent (Invitrogen, Gaithersburg, MD, USA) for microarray analysis as previously described [ 34 ]. Briefly, RNA was digested with RNase R, amplificated, labeled, purified, and quantified according to the manufacturer's protocol.…”

Section: Methodsmentioning

confidence: 99%

Identification of circRNA Expression Profile and Potential Systemic Immune Imbalance Modulation in Premature Rupture of Membranes

Huang,

Ran,

Chen

et al. 2024

Analytical Cellular Pathology

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Premature rupture of membrane (PROM) refers to the rupture of membranes before the onset of labor which increases the risk of perinatal morbidity and mortality. Recently, circular RNAs (circRNAs) have emerged as promising regulators of diverse diseases. However, the circRNA expression profiles and potential circRNA–miRNA–mRNA regulatory mechanisms in PROM remain enigmatic. In this study, we displayed the expression profiles of circRNAs and mRNAs in plasma and fetal membranes of PROM and normal control (NC) groups based on circRNA microarray, the Gene Expression Omnibus database, and NCBI’s Sequence Read Archive. A total of 1,459 differentially expressed circRNAs (DECs) in PROM were identified, with 406 upregulated and 1,053 downregulated. Then, we constructed the circRNA–miRNA–mRNA network in PROM, encompassing 22 circRNA–miRNA pairs and 128 miRNA–mRNA pairs. Based on the analysis of gene ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and gene set enrichment analysis (GSEA), DECs were implicated in immune-related pathways, with certain alterations persisting even postpartum. Notably, 11 host genes shared by DECs of fetal membrane tissue and prenatal plasma in PROM were significantly implicated in inflammatory processes and extracellular matrix regulation. Our results suggest that structurally stable circRNAs may predispose to PROM by mediating systemic immune imbalances, including peripheral leukocyte disorganization, local immune imbalance at the maternal–fetal interface, and local collagen disruption. This is the first time to decipher a landscape on circRNAs of PROM, reveals the pathogenic cause of PROM from the perspective of circRNA, and opens up a new direction for the diagnosis and treatment of PROM.

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Presence of cell-free fetal circRNA in maternal plasma

Cited by 4 publications

References 11 publications

Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports

Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports

Effects of Maternal Factors on Fetal Aneuploidy and Reliability of Screening: A Cohort Study Based on 12,186 Karyotype Reports

Identification of circRNA Expression Profile and Potential Systemic Immune Imbalance Modulation in Premature Rupture of Membranes

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