maternal peripheral blood
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2022 ◽  
Vol 2022 ◽  
pp. 1-8
Author(s):  
Ying Tang ◽  
Qiaojin Tang ◽  
Haiyan Luo ◽  
Xuehui Zhang ◽  
Qiuyu Chen ◽  
...  

Prenatal diagnosis is an important means of early diagnosis of genetic diseases, which can effectively reduce the risk of birth defects. Free fetal cells, as a carrier of intact fetal genetic material, provide hope for the development of high-sensitivity and high-accuracy prenatal diagnosis technology. However, the number of fetal cells is small and it is difficult to apply clinically. In recent years, noninvasive prenatal diagnosis (NIPD) technology for fetal genetic material in maternal peripheral blood has developed rapidly, which makes it possible to diagnose genetic diseases by fetal cells in maternal peripheral blood. This article reviewed the current status of fetal cell separation and enrichment technology and its application in noninvasive prenatal diagnosis technology.


Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2239
Author(s):  
Giulia Sabbatinelli ◽  
Donatella Fantasia ◽  
Chiara Palka ◽  
Elisena Morizio ◽  
Melissa Alfonsi ◽  
...  

Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.


Author(s):  
Nardhy Gomez-Lopez ◽  
Roberto Romero ◽  
Jose Galaz ◽  
Gaurav Bhatti ◽  
Bogdan Done ◽  
...  

Abstract The complex physiologic process of parturition includes the onset of labor, which requires the orchestrated stimulation of a common pathway involving uterine contractility, cervical ripening, and chorioamniotic membrane activation. However, the labor-specific processes taking place in these tissues have limited use as predictive biomarkers unless they can be probed in non-invasive samples, such as the peripheral blood. Herein, we utilized a transcriptomic dataset to assess labor-specific changes in the peripheral blood of women who delivered at term. We identified a set of genes that were differentially expressed with labor and enriched for immunological processes, and these gene expression changes were strongly correlated with results from prior studies, providing in silico validation of our findings. We then identified significant correlations between labor-specific transcriptomic changes in the maternal circulation and those detected in the chorioamniotic membranes, myometrium, and cervix of women at term, demonstrating that tissue-specific labor signatures are partly mirrored in the peripheral blood. Finally, we demonstrated a significant overlap between the peripheral blood transcriptomic changes in term parturition and those observed in asymptomatic women, prior to the diagnosis of preterm prelabor rupture of the membranes, who ultimately delivered preterm. Collectively, we provide evidence that the normal process of labor at term is characterized by a unique immunological expression signature, which may serve as a useful tool for assessing labor status and for potentially identifying women at risk for preterm birth.


Biology ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 1037
Author(s):  
Violeta Soljic ◽  
Maja Barbaric ◽  
Martina Vukoja ◽  
Marina Curlin ◽  
Martina Orlovic Vlaho ◽  
...  

In our study, we aimed to establish expression of cytotoxic CD8+ T cells in the decidua basalis and the maternal peripheral blood (mPBL) of severe and mild preeclampsia (PE) and compare to healthy pregnancies. Decidual tissue and mPBL of 10 women with mild PE, 10 women with severe PE, and 20 age-matched healthy pregnancy controls were analyzed by double immunofluorescence and qPCR, respectively. By double immunofluorescence staining, we found a decreased total number of cells/mm2 in decidua basalis of granulysin (GNLY)+ (p ˂ 0.0001), granzyme B (GzB)+(p ˂ 0.0001), GzB+CD8+(p ˂ 0.0001), perforin (PRF1)+ (p ˂ 0.0001), and PRF1+CD8+ (p ˂ 0.01) in the severe PE compared to control group. Additionally, we noticed the trend of lower mRNA expression for GNLY, granzyme A (GZMA), GzB, and PRF1 in CD8+ T cells of mPBL in mild and severe PE, with the latter marker statistically decreased in severe PE (p ˂ 0.001). Forkhead box P3 (FOXP3) mRNA in CD8+ T cells mPBL was increased in mild PE (p ˂ 0.001) compared to controls. In conclusion, severe PE is characterized by altered expression of cytotoxic CD8+ T cells in decidua and mPBL, suggesting their role in pathophysiology of PE and fetal-maternal immune tolerance.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
K Va. Bentem ◽  
M Bos ◽  
C Va. de. Keur ◽  
H Kapsenberg ◽  
L Lashley ◽  
...  

Abstract Study question Is the number of regulatory T-cells (Tregs) and immunoregulatory cytokines in the decidua basalis of oocyte donation (OD) pregnancies different compared to naturally conceived pregnancies? Summary answer This study suggests that the immunoregulation at the fetal-maternal interface in OD pregnancies with a higher amount of fetal-maternal HLA mismatches appears to be altered. What is known already Tregs and related immunoregulatory cytokines, such as interleukins, transforming growth factor-β, and galectin–1, play a key role in maintaining tolerance at the decidua basalis in human pregnancy. Previous studies observed decreased numbers of decidual Tregs in miscarriage and preeclamptic pregnancies. These complications occur in higher frequencies in OD pregnancies, which are characterized by more fetal-maternal human leukocyte antigen (HLA) mismatches compared with naturally conceived (NC) and non-donor in vitro fertilization (IVF) pregnancies, since the fetus obtains paternal and donor-derived HLA genes. Consequently, the maternal immune system has to cope with greater immunogenetic dissimilarity. Involved immunoregulatory mechanisms however remain poorly understood. Study design, size, duration: This case-control study included 27 OD, 11 IVF, and 16 NC placentas of uncomplicated pregnancies, which were collected after delivery at 37–42 weeks of gestation between 2005 and 2013. Clinical data, maternal peripheral blood and umbilical cord blood were collected. Participants/materials, setting, methods Decidua basalis was dissected from the placentas, and processed to formalin-fixed, paraffin-embedded slices (4 µm). Immunohistochemical staining for FOXP3, interleukin 10, interleukin 6, galectin–1, transforming growth factor-β, and Flt–1 was performed. Semi-quantitative (FOXP3+ Tregs) and computerized analysis (cytokines), using Image-J software, were executed. Maternal peripheral blood and fetal umbilical cord blood were typed for HLA class I and II, using the Sequence Specific Oligonucleotides PCR technique, to calculate the number of fetal-maternal HLA mismatches. Main results and the role of chance All the deciduae basalis of OD, IVF and NC pregnancies showed FOXP3+ Tregs. No significant differences were found when comparing the three groups for the mean number of FOXP3+ Tregs. However, when the amount of fetal-maternal HLA mismatches was related to the percentage of FOXP3+ Tregs, the Tregs were significantly higher in pregnancies with 4–6 HLA class I mismatches (n = 16), than in those with 0–3 HLA class I mismatches (n = 38; p = 0.029). Furthermore, OD pregnancies express less interleukin 10, interleukin 6, galectin–1 and Flt–1 in the decidua basalis compared to NC pregnancies. Moreover, the amount of interleukin 10 was significantly lower with 3–4 fetal-maternal HLA class II mismatches (p = 0.032). Limitations, reasons for caution This study is limited by a small sample size. Moreover, only term placentas were collected. It would be worthwhile investigating immunological alterations in the decidua throughout the whole gestation, since maternal adaptation of the fetal allograft could be more prominent early in pregnancy. Wider implications of the findings: Unravelling the mechanisms of immunomodulation during OD pregnancy, reflected by a high level of fetal-maternal dissimilarity, could help to reach the ultimate goal in transplantation; the induction of donor-specific tolerance. In addition, it might help to understand the development of complications in OD pregnancy. Trial registration number Not applicable


Biomedicines ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 170
Author(s):  
Viktor Černý ◽  
Olga Novotná ◽  
Petra Petrásková ◽  
Kateřina Hudcová ◽  
Kristýna Boráková ◽  
...  

Understanding the early events involved in the induction of immune tolerance to harmless environmental antigens and microbiota compounds could reveal potential targets for allergic disease therapy or prevention. Regulatory T cells (Treg), particularly induced Treg (iTreg), are crucial for the induction and maintenance of tolerance against environmental antigens including allergens. A decrease in the number and/or function of Treg or iTreg could represent an early predictor of allergy development. We analyzed proportional and functional properties of Treg in the cord blood of children of allergic mothers (neonates at high risk of allergy development) and healthy mothers (neonates with relatively low risk of allergy development). We observed a higher number of induced Treg in the cord blood of females compared to males, suggesting an impaired capacity of male immunity to set up tolerance to allergens, which could contribute to the higher incidence of allergy observed in male infants. The decreased proportion of iTreg in cord blood compared with maternal peripheral blood documents the general immaturity of the neonatal immune system. We observed a positive correlation in the demethylation of the Treg-specific demethylated region (TSDR) and the proportion of Treg in cord blood. Our data suggest that immaturity of the neonatal immune system is more severe in males, predisposing them to increased risk of allergy development.


2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Otchere Addai-Mensah ◽  
Edward Y. Afriyie ◽  
Samuel Asamoah Sakyi ◽  
Christian Obirikorang ◽  
Max Efui Annani-Akollor ◽  
...  

Background. This prospective cohort study evaluated the usefulness of conventional PCR in genotyping fetal Rhesus D (RhD) and sex from the maternal plasma of RhD-negative (RhD−) antenatal population in resource-limited settings. Methods. Thirty apparently healthy RhD− pregnant women with RhD positive (RhD+) partners were included. Blood samples were collected from each participant (in the third trimester of pregnancy) for DNA extraction/purification and fetal RhD genotyping. Results. Out of the 30 samples, 26 (86.7%) were found to be RhD+ while 4 (13.3%) were RhD−. The RhD+ comprised 24 (80.0%) RhD+ based on exons 5, 7, and 10 combined. Exons 5 and 7 were detected in two additional samples but not exon 10. Serological phenotyping of neonatal blood confirmed 26 RhD+ and 4 RhD−. There was a perfect agreement between the fetal RhD genotype and neonatal RhD phenotyping after delivery for exons 5 and 7 (concordance = 100%, κ = 100.0%, diagnostic accuracy = 100%, p < 0.0001 ) while exon 10 presented with an almost perfect agreement (concordance = 93.3%, κ = 76.2%, diagnostic accuracy = 93.3%, p < 0.0001 ). Regarding the prenatal test for the SRY gene, 9 (30.0%) were predicted to be males and the remaining 21 (60.0%) were females. All the 9 and 21 anticipated males and females, respectively, were confirmed after delivery (concordance = 100%, κ = 100.0%, diagnostic accuracy = 100%). Conclusion. Our study suggests that conventional PCR using the SRY, RhD exons 5 and 7 could be useful for predicting fetal sex and RhD from maternal peripheral blood in resource-limited settings.


JCI Insight ◽  
2020 ◽  
Vol 5 (7) ◽  
Author(s):  
Richard Apps ◽  
Yuri Kotliarov ◽  
Foo Cheung ◽  
Kyu Lee Han ◽  
Jinguo Chen ◽  
...  

2020 ◽  
Vol 21 (6) ◽  
pp. 2120 ◽  
Author(s):  
Danilo Buca ◽  
Giuseppina Bologna ◽  
Alice D’Amico ◽  
Sara Cugini ◽  
Francesca Musca ◽  
...  

Extracellular vesicles (EVs) actively participate in inter-cellular crosstalk and have progressively emerged as key players of organized communities of cells within multicellular organisms in health and disease. For these reasons, EVs are attracting the attention of many investigators across different biomedical fields. In this scenario, the possibility to study specific placental-derived EVs in the maternal peripheral blood may open novel perspectives in the development of new early biomarkers for major obstetric pathological conditions. Here we reviewed the involvement of EVs in feto–maternal crosstalk mechanisms, both in physiological and pathological conditions (preeclampsia, fetal growth restriction, preterm labor, gestational diabetes mellitus), also underlining the usefulness of EV characterization in maternal–fetal medicine.


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