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PURPOSE: While cell-free DNA (cfDNA) screening has emerged as a screening modality for common aneuploidies, further research and several publications over the past decade suggested some correlation between the low concentrations of cfDNA and a number of pregnancy-related complications. The primary goal of this systematic review and meta-analysis was to assess the potential value of low-ff levels in the prediction of subsequent PE/PIH, GDM, SGA/FGR, and PTB. The meta-analysis results aim at summarizing the currently available literature data and determining the clinical relevance of this biochemical marker and the potential necessity for additional investigation of its utility in complications other than the detection of common aneuploidies. METHODS: This systematic review and meta-analysis was designed according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines. It included all observational studies that reported low -ff levels after the performance of non-invasive prenatal testing (NIPT) as part of the screening for chromosomal abnormalities and their association with adverse pregnancy outcomes, namely the subsequent development of hypertensive disorders of pregnancy, gestational diabetes, preterm birth, and the detection of small for gestational age fetuses or growth-restricted fetuses. The Medline (1966-2041), Scopus (2004-2024), Clinicaltrials.gov (2008-2024), EMBASE (1980-2024), Cochrane Central Register of Controlled Trials CENTRAL (1999-2024) and Google Scholar (2004-2024) databases were used in our primary search along with the reference lists of electronically retrieved full-text papers. The date of our last search was set at February 29, 2024. RESULTS: Our search identified 128 potentially relevant studies and,overall, 8 studies were included in the present systematic review that enrolled a total of 72,507 patients. Low ff of cfDNA cfDNA was positively associated with HDP (OR 1.66, 95% CI 1.34, 2.06, I-square test: 56%). Low ff of cfDNA was positively associated with GDM (OR 1.27, 95% CI 1.03, 1.56, I-square test: 76%). Furthermore, low ff levels were positively associated with SGA/FGR (OR 1.63, 95% CI 1.32, 2.03, I-square test: 0%). Low ff levels were positively correlated with the risk for PTB but the association did not manage to reach a statistical significant level (OR 1.22, 95% CI 0.89, 1.67, I-square test: 66%). CONCLUSION: Our study suggests that low ff is associated with increased risk of adverse perinatal outcomes, including PE/PIH, GDM, and SGA/FGR. However, the relationship between ff and PTB remains unclear due to conflicting evidence. It should be emphasized that further research is needed to reveal the underlying mechanisms behind the association of low ff with adverse pregnancy outcomes and explore its potential role in an overall prenatal screening, which could potentially not be limited to detecting aneuploidies.
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Background/Objectives: This study aims to create a strong binary classifier and evaluate the performance of pre-trained convolutional neural networks (CNNs) to effectively distinguish between benign and malignant ovarian tumors from still ultrasound images. Methods: The dataset consisted of 3510 ultrasound images from 585 women with ovarian tumors, 390 benign and 195 malignant, that were classified by experts and verified by histopathology. A 20% to80% split for training and validation was applied within a k-fold cross-validation framework, ensuring comprehensive utilization of the dataset. The final classifier was an aggregate of three pre-trained CNNs (VGG16, ResNet50, and InceptionNet), with experimentation focusing on the aggregation weights and decision threshold probability for the classification of each mass. Results: The aggregate model outperformed all individual models, achieving an average sensitivity of 96.5% and specificity of 88.1% compared to the subjective assessment's (SA) 95.9% sensitivity and 93.9% specificity. All the above results were calculated at a decision threshold probability of 0.2. Notably, misclassifications made by the model were similar to those made by SA. Conclusions: CNNs and AI-assisted image analysis can enhance the diagnosis and aid ultrasonographers with less experience by minimizing errors. Further research is needed to fine-tune CNNs and validate their performance in diverse clinical settings, potentially leading to even higher sensitivity and overall accuracy.
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Background: Assessing fetal growth constitutes a fundamental aim within the realm of prenatal care. Impaired prenatal growth increases the risk of perinatal mortality, morbidity, and poor newborn outcomes. Growth restriction increases the risk of premature birth problems, as well as the risk of poor neurodevelopmental outcomes and future non-communicable disorders such as hypertension and metabolic syndrome as adults. The objective of this systematic review is to accumulate current literature evidence to assess the patterns of serum adipokine levels among women with growth-restricted fetuses and assess their potential alterations in those high-risk pregnancies. Methods: Medline, Scopus, CENTRAL, Clinicaltrials.gov, and Google Scholar databases were systematically searched from inception until 31 March 2023. All observational studies reporting serum adipokine values among women with appropriately grown and growth-restricted fetuses were held eligible. Results: The current systematic review encompassed a total of 20 studies, incorporating a patient population of 1850 individuals. Maternal blood leptin emerged as the adipokine most investigated, as evidenced by 13 studies encompassing a collective sample size of 1081 patients, all of which explored its potential correlation with intrauterine growth restriction. Elevated levels of leptin were detected in fetuses with intrauterine growth restriction, although the observed difference did not reach statistical significance. Furthermore, regarding adiponectin, the meta-analysis conducted indicated that there were not any statistically significant differences observed in the mean values of adiponectin. The available data on the remaining three adipokines were extremely limited, making it difficult for any solid conclusions to be extracted. Conclusions: Though limited and inconsistent, the existing data suggest that fetal growth restriction is not linked to leptin, adiponectin, visfatin, resistin, or RBP4. More substantial prospective studies are needed to comprehend the importance of established and novel adipokines.
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Gestational trophoblastic neoplasia (GTN) is a group of pregnancy-related disorders that arise from the cells of conception. They include gestational choriocarcinoma (CC), placental site trophoblastic tumor, and epithelioid trophoblastic tumor with these forms arising from a molar pregnancy, abortion, or a normal genetic pregnancy. Most cases of GTN are diagnosed when the serum hCG levels plateau or rise in patients being followed up after the diagnosis of hydatidiform mole but can also be suspected due to persistent vaginal bleeding after a normal pregnancy and delivery. Early diagnosis and treatment are pivotal for ensuring optimal outcomes and given the rarity of the disease, clinical management and treatment should be provided in specialized centers. Here, we present a rare case of a 31-year-old woman diagnosed with choriocarcinoma with pulmonary metastasis following an uncomplicated full-term pregnancy. After the suction evacuation and curettage, she underwent six cycles of chemotherapy with an excellent response, a fact that resulted in a subsequent pregnancy and birth without complications, occurring 18 months thereafter.
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Systemic lupus erythematosus (SLE) is a heterogeneous chronic, multisystem, inflammatory autoimmune disorder with variable clinical features, with its manifestations being attributed to the presence of multiple autoantibodies and their subsequent autoimmune reactions. Multiple organs may be involved, with the kidneys, the joints, and the skin being the most common, increasing maternal and fetal morbidity and mortality. Our current article describes the case of a 32-year-old primigravida who was referred to our department after the detection of fetal bradycardia and the strong suspicion of an underlying cardiac abnormality. After a detailed fetal and maternal assessment, the diagnosis of SLE-associated fetal congenital heart block was established, and the appropriate management and treatment were provided, factors that led to the uncomplicated delivery and prompt successful management of an otherwise severely affected fetus. Our work, also, includes a detailed review of the accumulated evidence regarding the association between autoantibodies and congenital heart block, the available screening modalities of the condition, and its potential therapeutic interventions.
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BACKGROUND: Emerging evidence suggests the clinical utility of N terminal pro B type natriuretic peptide (NT-proBNP) in multiple cardiac and pulmonary abnormalities both in adult and pediatric populations. To date, however, there is no consensus regarding its efficacy for the prediction and severity of bronchopulmonary dysplasia in premature neonates. The objective of the present meta-analysis was to determine differences in NT-proBNP among neonates that develop BPD or die from BPD and to evaluate if there is relative information on the diagnostic accuracy of the method. METHODS: We conducted a systematic search according to the PRISMA guidelines and looked into Medline (1966-2023), Scopus (2004-2023), Clinicaltrials.gov (2008-2023), EMBASE (1980-2023), Cochrane Central Register of Controlled Trials CENTRAL (1999-2022) and Google Scholar (2004-2023) together with the reference lists from included studies. The potential risk of bias encountered in our study was evaluated using the QUADAS -2 tool. Finally, a total of 9 studies met the eligibility criteria, comprising 1319 newborns, from which 397 developed BPD and 922 were unaffected controls. RESULTS: The results retrieved from our meta-analysis showed that newborns suffering from BPD had notably elevated NT-proBNP levels after birth when compared with healthy neonates (SMD 2.57, 95% CI 0.41, 4.72). The summary effect of the AUC meta-analysis showed that NT-proBNP was very accurate in detecting neonates at risk of developing severe BPD or dying from the disease (AUC -0.16, 95% CI -0.23, -0.08). No studies reported data relevant to the sensitivity and/or specificity of the method in diagnosing BPD. CONCLUSION: Serum NT-proBNP levels represent a potential future biomarker with great diagnostic validity for the prediction of BPD complicating preterm deliveries. The limited amount of studies included and the significant variations in cutoff values and timing of measurement still restrict the application of NT-proBNP as an established clinical biomarker for BPD. The design of larger prospective studies will provide a more representative number of participants and will address the discrepancies in existing literature.
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Twin pregnancies demonstrate a 2-3-fold higher chance of developing PE compared to singletons, and recent evidence has demonstrated that the sFLT1/PIGF ratio is strongly associated with PE, adverse pregnancy outcomes, as well as imminent deliveries due to PE complications. The primary objective of this systematic review was to summarise the available data on the levels of sFLT1, PlGF and their ratios in twin pregnancies and to investigate their association with the development of PE, adverse pregnancy outcomes and the timing of the delivery. A systematic search of Ovid Embase, Web of Science, Science Direct, PubMed, Ovid Medline, Google Scholar and CINAHL was carried out. sFLT1 levels and the sFLT1/PIGF ratio appeared higher in twins compared to singleton pregnancies, especially in the third trimester, while PlGF levels appeared higher up until the third trimester, with their values showing no difference or being even lower than in singletons thereafter. The sFLT1/PIGF ratio has been reported to be an independent marker of adverse outcomes related to pre-eclampsia and is associated with the mean time until delivery in an inverse manner. Further research is required in order to establish the optimal sFLT1/PIGF cut-off values and to stratify the risk of adverse outcomes in twin pregnancies.
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Pré-Eclâmpsia , Gravidez de Gêmeos , Feminino , Humanos , Gravidez , Biomarcadores , Fator de Crescimento Placentário , Pré-Eclâmpsia/diagnóstico , Pré-Eclâmpsia/etiologia , Receptor 1 de Fatores de Crescimento do Endotélio VascularRESUMO
Ovarian cancer (OC) is the seventh most common malignancy diagnosed among women, the eighth leading cause of cancer mortality globally, and the most common cause of death among all gynecological cancers. Even though recent advances in technology have allowed for more accurate radiological and laboratory diagnostic tests, approximately 60% of OC cases are diagnosed at an advanced stage. Given the high mortality rate of advanced stages of OC, early diagnosis remains the main prognostic factor. Our aim is to focus on the sonographic challenges in ovarian cancer screening and to highlight the importance of sonographic evaluation, the crucial role of the operatorÎs experience, possible limitations in visibility, emphasizing the importance and the necessity of quality assurance protocols that health workers have to follow and finally increasing the positive predictive value. We also analyzed how ultrasound can be combined with biomarkers (ex. CA-125) so as to increase the sensitivity of early-stage OC detection or, in addition to the gold standard examination, the CT (Computed tomography) scan in OC follow-up. Improvements in the performance and consistency of ultrasound screening could reduce the need for repeated examinations and, mainly, ensure diagnostic accuracy. Finally, we refer to new very promising techniques such as liquid biopsies. Future attempts in order to improve screening should focus on the identification of features that are unique to OC and that are present in early-stage tumors.
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Cancer cells are known to have a distinct metabolic profile and to exhibit significant changes in a variety of metabolic mechanisms compared to normal cells, particularly glycolysis and glutaminolysis, in order to cover their increased energy requirements. There is mounting evidence that there is a link between glutamine metabolism and the proliferation of cancer cells, demonstrating that glutamine metabolism is a vital mechanism for all cellular processes, including the development of cancer. Detailed knowledge regarding its degree of engagement in numerous biological processes across distinct cancer types is still lacking, despite the fact that such knowledge is necessary for comprehending the differentiating characteristics of many forms of cancer. This review aims to examine data on glutamine metabolism and ovarian cancer and identify possible therapeutic targets for ovarian cancer treatment.
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Neoplasias , Neoplasias Ovarianas , Humanos , Feminino , Glutamina/metabolismo , Neoplasias/metabolismo , Glicólise , Metabolismo EnergéticoRESUMO
Polycythemia vera (PV) is one of the three main classic disorders of Philadelphia-negative myeloproliferative neoplasms (MPNs), with the other two being essential thrombocythemia (ET) and primary myelofibrosis (PMF). PV may develop (15%) in women of childbearing age (15-45 years), with an anticipated rate of roughly 0.3 per 100,000 people, although maintaining a male to female ratio predominance of about 2:1 and a peak prevalence in the sixth and seventh decades of life. Without always being presented with its actual clinical manifestations due to pregnancy itself, and most commonly due to iron deficiency, PV can be frequently missed and therefore belatedly diagnosed. We describe the case of a primipara woman in her 40s, without risk factors for thrombosis, who developed a portal vein occlusion 1.5 month postpartum after C-section and who had a delayed diagnosis of PV.
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OBJECTIVE: To investigate whether first-trimester maternal plasma fetal fraction is altered in women that subsequently develop preeclampsia (PE) or gestational hypertension (GH) and to examine its potential value in improving the performance of screening for PE and GH by maternal factors and maternal serum pregnancy associated plasma protein-A (PAPP-A), mean arterial pressure (MAP) and uterine artery pulsatility index (UtA-PI). METHODS: The study population of 10,131 pregnancies undergoing cell free fetal DNA testing at 11-13 weeks' gestation included 91 (0.9%) cases with preterm-PE, 222 (2.2%) cases with term-PE, 360 (3.6%) with GH and 9,458 (93.4%) cases unaffected by hypertensive disorders. Maternal plasma fetal fraction levels were expressed as multiples of the median (MoM) after adjustment for maternal factors and crown-rump length. The performance of screening for preterm-PE, term PE and GH by maternal factors and MoM values of fetal fraction, PAPP-A, UtA-PI and MAP was evaluated by receiver operating characteristic (ROC) curves. RESULTS: The median fetal fraction MoM was significantly lower in the preterm-PE (0.825; IQR 0.689-1.115 MoM, p < .001), term-PE (0.946; IQR 0.728-1.211 MoM, p = .028) and GH (0.928; IQR 0.711-1.182 MoM, p < .001) groups than in the unaffected group (1.002; IQR 0.785-1.251 MoM). However, the performance of screening for PE or GH by maternal factors alone or by maternal factors and PAPP-A, UtA-PI and MAP was not significantly improved by the addition of fetal fraction. CONCLUSIONS: First trimester maternal plasma fetal fraction is not useful in screening for hypertensive disorders of pregnancy.