scholarly journals A Systematic Review to Guide Future Efforts in the Determination of Genetic Causes of Pregnancy Loss

2021 ◽  
Vol 3 ◽  
Author(s):  
Andrew Z. Carey ◽  
Nathan R. Blue ◽  
Michael W. Varner ◽  
Jessica M. Page ◽  
Nathorn Chaiyakunapruk ◽  
...  
Keyword(s):  
Systematic Review ◽  
Pregnancy Loss ◽  
Association Studies ◽  
Population Based ◽  
Systematic Evaluation ◽  
Future Research ◽  
Genetic Pathways ◽  
Genetic Causes ◽  
Fetal Survival ◽  
In Pregnancy

Background: Pregnancy loss is the most common obstetric complication occurring in almost 30% of conceptions overall and in 12–14% of clinically recognized pregnancies. Pregnancy loss has strong genetic underpinnings, and despite this consensus, our understanding of its genetic causes remains limited. We conducted a systematic review of genetic factors in pregnancy loss to identify strategies to guide future research.Methods: To synthesize data from population-based association studies on genetics of pregnancy loss, we searched PubMed for relevant articles published between 01/01/2000-01/01/2020. We excluded review articles, case studies, studies with limited sample sizes to detect associations (N < 4), descriptive studies, commentaries, and studies with non-genetic etiologies. Studies were classified based on developmental periods in gestation to synthesize data across various developmental epochs.Results: Our search yielded 580 potential titles with 107 (18%) eligible after title/abstract review. Of these, 54 (50%) were selected for systematic review after full-text review. These studies examined either early pregnancy loss (n = 9 [17%]), pregnancy loss >20 weeks' gestation (n = 10 [18%]), recurrent pregnancy loss (n = 32 [59%]), unclassified pregnancy loss (n = 3 [4%]) as their primary outcomes. Multiple genetic pathways that are essential for embryonic/fetal survival as well as human development were identified.Conclusion: Several genetic pathways may play a role in pregnancy loss across developmental periods in gestation. Systematic evaluation of pregnancy loss across developmental epochs, utilizing whole genome sequencing in families may further elucidate causal genetic mechanisms and identify other pathways critical for embryonic/fetal survival.

Gifted Classroom Environments and the Creative Process: A Systematic Review

2021 ◽  
pp. 016235322110014
Author(s):  
Lindsay Ellis Lee ◽  
Melanie S. Meyer ◽  
Kacey Crutchfield
Keyword(s):  
Systematic Review ◽  
Creative Process ◽  
Classroom Culture ◽  
Systematic Evaluation ◽  
Future Research ◽  
Critical Examination ◽  
Process Skills ◽  
Classroom Environments ◽  
Creative Processes ◽  
K 12

As the expectations for including creativity in K–12 education continually grow, creative process skills equip students with thinking strategies to generate and evaluate ideas. This systematic review explored existing research on elementary and secondary gifted classroom environments that promote creative process skills. A database search yielded peer-reviewed literature, empirical and practitioner-focused, for systematic evaluation. A critical examination of literature published from 2011 to 2019 identified characteristics of educational environments that foster creative processes and highlighted key themes, including integrating creative process skills, adaptive environments, reflective classroom culture, and challenges to implementation. Implications for classroom application and suggestions for future research are discussed.

scholarly journals Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

2019 ◽  
Vol 25 (4) ◽  
pp. 452-472 ◽  
Author(s):  
Emily Colley ◽  
Susan Hamilton ◽  
Paul Smith ◽  
Neil V Morgan ◽  
Arri Coomarasamy ◽  
...  
Keyword(s):  
Systematic Review ◽  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Current Evidence ◽  
Genetic Causes ◽  
Search Terms ◽  
Number Variation

Abstract BACKGROUND Approximately 50% of pregnancy losses are caused by chromosomal abnormalities, such as aneuploidy. The remainder has an apparent euploid karyotype, but it is plausible that there are cases of pregnancy loss with other genetic aberrations that are not currently routinely detected. Studies investigating the use of exome sequencing and chromosomal microarrays in structurally abnormal pregnancies and developmental disorders have demonstrated their clinical application and/or potential utility in these groups of patients. Similarly, there have been several studies that have sought to identify genes that are potentially causative of, or associated with, spontaneous pregnancy loss, but the evidence has not yet been synthesized. OBJECTIVE AND RATIONALE The objective was to identify studies that have recorded monogenic genetic contributions to pregnancy loss in euploid pregnancies, establish evidence for genetic causes of pregnancy loss, identify the limitations of current evidence, and make recommendations for future studies. This evidence is important in considering additional research into Mendelian causes of pregnancy loss and appropriate genetic investigations for couples experiencing recurrent pregnancy loss. SEARCH METHODS A systematic review was conducted in MEDLINE (1946 to May 2018) and Embase (1974 to May 2018). The search terms ‘spontaneous abortion’, ‘miscarriage’, ‘pregnancy loss’, or ‘lethal’ were used to identify pregnancy loss terms. These were combined with search terms to identify the genetic contribution including ‘exome’, ‘human genome’, ‘sequencing analysis’, ‘sequencing’, ‘copy number variation’, ‘single-nucleotide polymorphism’, ‘microarray analysis’, and ‘comparative genomic hybridization’. Studies were limited to pregnancy loss up to 20 weeks in humans and excluded if the genetic content included genes that are not lethal in utero, PGD studies, infertility studies, expression studies, aneuploidy with no recurrence risk, methodologies where there is no clinical relevance, and complex genetic studies. The quality of the studies was assessed using a modified version of the Newcastle–Ottawa scale. OUTCOMES A total of 50 studies were identified and categorized into three themes: whole-exome sequencing studies; copy number variation studies; and other studies related to pregnancy loss including recurrent molar pregnancies, epigenetics, and mitochondrial DNA aberrations. Putatively causative variants were found in a range of genes, including CHRNA1 (cholinergic receptor, nicotinic, alpha polypeptide 1), DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1), and RYR1 (ryanodine receptor 1), which were identified in multiple studies. Copy number variants were also identified to have a causal or associated link with recurrent miscarriage. WIDER IMPLICATIONS Identification of genes that are causative of or predisposing to pregnancy loss will be of significant individual patient impact with respect to counselling and treatment. In addition, knowledge of specific genes that contribute to pregnancy loss could also be of importance in designing a diagnostic sequencing panel for patients with recurrent pregnancy loss and also in understanding the biological pathways that can cause pregnancy loss.

scholarly journals Radiology artificial intelligence, a systematic evaluation of methods (RAISE): a systematic review protocol

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Brendan Kelly ◽  
Conor Judge ◽  
Stephanie M. Bollard ◽  
Simon M. Clifford ◽  
Gerard M. Healy ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Systematic Review ◽  
Data Extraction ◽  
Meta Analysis ◽  
Group Analysis ◽  
Cochrane Collaboration ◽  
Systematic Evaluation ◽  
Future Research ◽  
Ethical Approval ◽  
Registration Number

Abstract Introduction There has been a recent explosion of research into the field of artificial intelligence as applied to clinical radiology with the advent of highly accurate computer vision technology. These studies, however, vary significantly in design and quality. While recent guidelines have been established to advise on ethics, data management and the potential directions of future research, systematic reviews of the entire field are lacking. We aim to investigate the use of artificial intelligence as applied to radiology, to identify the clinical questions being asked, which methodological approaches are applied to these questions and trends in use over time. Methods and analysis We will follow the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines and by the Cochrane Collaboration Handbook. We will perform a literature search through MEDLINE (Pubmed), and EMBASE, a detailed data extraction of trial characteristics and a narrative synthesis of the data. There will be no language restrictions. We will take a task-centred approach rather than focusing on modality or clinical subspecialty. Sub-group analysis will be performed by segmentation tasks, identification tasks, classification tasks, pegression/prediction tasks as well as a sub-analysis for paediatric patients. Ethics and dissemination Ethical approval will not be required for this study, as data will be obtained from publicly available clinical trials. We will disseminate our results in a peer-reviewed publication. Registration number PROSPERO: CRD42020154790

scholarly journals A systematic review of statistical models and outcomes of predicting fatal and serious injury crashes from driver crash and offense history data

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Reneta Slikboer ◽  
Samuel D. Muir ◽  
S. S. M. Silva ◽  
Denny Meyer
Keyword(s):  
Systematic Review ◽  
Quality Assessment ◽  
Statistical Models ◽  
Assessment Tool ◽  
Systematic Evaluation ◽  
Future Research ◽  
Alternative Measure ◽  
Quality Assessment Tool ◽  
Serious Injury ◽  
The Impact

Abstract Background Expenditure on driver-related behavioral interventions and road use policy is often justified by their impact on the frequency of fatal and serious injury crashes. Given the rarity of fatal and serious injury crashes, offense history, and crash history of drivers are sometimes used as an alternative measure of the impact of interventions and changes to policy. The primary purpose of this systematic review was to assess the rigor of statistical modeling used to predict fatal and serious crashes from offense history and crash history using a purpose-made quality assessment tool. A secondary purpose was to explore study outcomes. Methods Only studies that used observational data and presented a statistical model of crash prediction from offense history or crash history were included. A quality assessment tool was developed for the systematic evaluation of statistical quality indicators across studies. The search was conducted in June 2019. Results One thousand one hundred and five unique records were identified, 252 full texts were screened for inclusion, resulting in 20 studies being included in the review. The results indicate substantial and important limitations in the modeling methods used. Most studies demonstrated poor statistical rigor ranging from low to middle quality. There was a lack of confidence in published findings due to poor variable selection, poor adherence to statistical assumptions relating to multicollinearity, and lack of validation using new data. Conclusions It was concluded that future research should consider machine learning to overcome correlations in the data, use rigorous vetting procedures to identify predictor variables, and validate statistical models using new data to improve utility and generalizability of models. Systematic review registration PROSPERO CRD42019137081

Treatment of Soil-Transmitted Helminth Infections in Pregnancy: A Systematic Review and Meta-Analysis of Maternal Outcomes

2019 ◽  
Author(s):  
Rachel Lau ◽  
Robert B Chris ◽  
Melissa S Phuong ◽  
Aisha Khatib ◽  
Swana Kopalakrishan ◽  
...  
Keyword(s):  
Systematic Review ◽  
Pregnant Women ◽  
Pregnancy Loss ◽  
Adverse Outcomes ◽  
Maternal Outcomes ◽  
Cure Rate ◽  
Maternal Anemia ◽  
Helminth Infections ◽  
Cure Rates ◽  
In Pregnancy

Abstract Background Gestational helminth infections are correlated to adverse outcomes including maternal anemia; as such, treatment is recommended. However, little published high-quality data exist around the efficacy, safety, and tolerability of anti-helminthics in pregnancy. We therefore conducted a systematic review and synthesized the available data on maternal outcomes following gestational treatment of intestinal nematodes to help guide clinical decision-making. Methods Five electronic databases were searched for studies reporting the efficacy, safety, or tolerability of anti-helminthic drugs for gestational treatment of intestinal nematodes. Studies were systematically screened, followed by data extraction. Trial quality was assessed using the GRADE approach. We conducted a narrative synthesis followed by meta-analyses using random-effects models as appropriate. Data were summarized using qualitative and quantitative measures for specific parasitic infections as well as efficacy and safety of anti-parasitic agents. Outcomes of interest included: maternal anemia, minor adverse outcomes, pregnancy loss, pre-mature delivery, prevalence of infection, and cure rate. Results 23 studies were included. Gestational treatment with albendazole had cure rates up to 90% for hookworm and Ascaris, but only 50% for Trichuris. Mebendazole had an overall cure rate of ≤70% for Ascaris, hookworm, and Trichuris. Pooled relative risk reduction of hookworm prevalence at delivery with albendazole compared to placebo was 90% (95%CI 0.09-0.15, n=2, I2=0%). Rate of pregnancy loss and hemoglobin concentration did not differ between albendazole or mebendazole versus placebo, and rates of pre-term delivery were similar in albendazole-treated pregnant women versus controls. Ivermectin demonstrated a cure rate of 29% for hookworm and 56% for Trichuris in pregnant women. No serious adverse events were attributable to any drug studied. Conclusions With increased international travel and migration of vulnerable populations, practitioners will encounter nematode infections in pregnant patients. Our analysis supports that albendazole in pregnancy has high cure rates for STHs and is safe for the mother.

Teenage pregnancy and mental health beyond the postpartum period: a systematic review

2018 ◽  
Vol 72 (6) ◽  
pp. 451-457 ◽  
Author(s):  
Chloé Xavier ◽  
Anita Benoit ◽  
Hilary K Brown
Keyword(s):  
Mental Health ◽  
Systematic Review ◽  
Postpartum Period ◽  
Teenage Pregnancy ◽  
Association Studies ◽  
Teenage Mothers ◽  
Future Research ◽  
Qualitative Synthesis ◽  
Increased Risk

BackgroundTeenage mothers are at increased risk for adverse social outcomes and short-term health problems, but long-term impacts on mental health are poorly understood. The aims of our systematic review were to determine the association between teenage pregnancy and mental health beyond the postpartum period, critically appraise the literature’s quality and guide future research.MethodsWe systematically searched MEDLINE, Embase, PsycINFO, CINAHL, Scopus and Web of Science from inception to June 2017 for peer-reviewed articles written in English or French. Data were collected using a modified Cochrane Data Extraction Form. Study quality was assessed using the Effective Public Health Practice Project critical appraisal tool. Heterogeneity of studies permitted only a qualitative synthesis.ResultsNine quantitative studies comprising the results from analyses of 11 cohorts met our criteria and were rated as strong (n=5), moderate (n=2) or weak (n=2). Three cohorts found a statistically significant association between teenage pregnancy and poor long-term mental health after adjustment, three found a statistically significant association before but not after adjustment and five did not find a statistically significant association. Studies observed varying degrees of attenuation after considering social context. Studies with statistically significant findings tended to comprise earlier cohorts, with outcomes measured at older ages.ConclusionsThe association between teenage pregnancy and mental health beyond the postpartum period remains unclear. Future studies should employ age–period–cohort frameworks to disentangle effects of normative patterns and stress accumulation. Social factors are important in determining long-term mental health of teenage mothers and should be prioritised in prevention and intervention strategies.

scholarly journals Gaps in Understanding of the Epidemiology of Mood and Anxiety Disorders among Migrant Groups in Canada: A Systematic Review

2019 ◽  
Vol 64 (9) ◽  
pp. 595-606 ◽  
Author(s):  
Jordan Edwards ◽  
Malini Hu ◽  
Amardeep Thind ◽  
Saverio Stranges ◽  
Maria Chiu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Anxiety Disorders ◽  
Reference Group ◽  
Meta Analysis ◽  
Secondary Data ◽  
Population Based ◽  
Future Research ◽  
Mood And Anxiety Disorders ◽  
Migrant Groups

Objective:Estimates of mood and anxiety disorders are highly variable among migrant groups, as they are influenced by the socio-political context. Our objective was to conduct a systematic review and meta-analysis to synthesize available Canadian evidence on the prevalence and incidence of mood and anxiety disorders among migrant groups.Methods:Studies were identified from MEDLINE, EMBASE, and PsycINFO. They were included if they used population-based samples, presented data on the incidence or prevalence of diagnosed or self-reported mood or anxiety disorders for first-generation migrant groups in Canada, and used a Canadian-born or long-term resident reference group.Results:Nineteen studies met our inclusion criteria. Prevalence ratios ranged from 0.48 to 0.87, and nearly all estimates were obtained from population health surveys. Prevalence estimates among migrant groups were lower than the reference group, with the 90th percentile of estimates ranging from 1.5% to 8.2%. Risk factors for mood and anxiety disorders among migrants included being female, younger, unemployed, having lower income, and living in neighborhoods with a lower proportion of migrants.Conclusions:There remain many gaps in our current understanding of mood and anxiety disorders among migrant groups in Canada. Although evidence suggests the prevalence of mood and anxiety disorders are consistently lower among migrant groups, a lack of incidence estimates limits the strength of this conclusion. Future research should focus on comparisons of self-reported and diagnosed estimates, the use of a range of different primary or secondary data sources, and consideration of important risk factors.Prospero Citation:Jordan Edwards, Malini Hu, Amardeep Thind, Saverio Stranges, Maria Chiu, Kelly Anderson. The burden of mood and anxiety disorders among immigrant and refugee populations in Canada: a systematic review. PROSPERO 2018 CRD42018087869 Available from: http://www.crd.york.ac.uk/PROSPERO/display_record.php?ID=CRD42018087869 .

scholarly journals Extracorporeal Life Support in Pregnancy: A Systematic Review

2020 ◽  
Vol 9 (13) ◽  
Author(s):  
Emily E. Naoum ◽  
Andrew Chalupka ◽  
Jonathan Haft ◽  
Mark MacEachern ◽  
Cosmas J. M. Vandeven ◽  
...  
Keyword(s):  
Systematic Review ◽  
Life Support ◽  
Extracorporeal Life Support ◽  
Maternal Complications ◽  
Fetal Outcomes ◽  
Fetal Survival ◽  
Maternal Survival ◽  
Fetal Complications ◽  
Peripartum Period ◽  
In Pregnancy

Background The use of extracorporeal life support ( ECLS ) has expanded to include unique populations such as peripartum women. This systematic review aims to (1) quantify the number of cases and indications for ECLS in women during the peripartum period reported in the literature and (2) report maternal and fetal complications and outcomes associated with peripartum ECLS . Methods and Results This review was registered in PROSPERO ( CRD 42018108142). MEDLINE , Embase, and CINAHL were searched for case reports, case series, and studies reporting cases of ECLS during the peripartum period that reported one or more of the following outcomes: maternal survival, maternal complications, fetal survival, and/or fetal complications. Qualitative assessment of 221 publications evaluated the number of cases, clinical details, and maternal and fetal outcomes of ECLS during the peripartum period. There were 358 women included and 68 reported fetal outcomes in cases where the mother was pregnant at the time of cannulation. The aggregate maternal survival at 30 days was 270 (75.4%) and at 1 year was 266 (74.3%); fetal survival was 44 (64.7%). The most common indications for ECLS overall in pregnancy included acute respiratory distress syndrome 177 (49.4%), cardiac failure 67 (18.7%), and cardiac arrest 57 (15.9%). The most common maternal complications included mild to moderate bleeding 66 (18.4%), severe bleeding requiring surgical intervention 48 (13.4%), and intracranial neurologic morbidity 19 (5.3%). The most commonly reported fetal complications included preterm delivery 33 (48.5%) and neonatal intensive care unit admission 19 (27.9%). Conclusions Reported rates of survival in ECLS in pregnant and postpartum women are high and major complications relatively low.

Is Homozygosity for the MTHFR C677T Mutation a Risk Factor for Miscarriage? — Likely.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4079-4079
Author(s):  
Ivy Altomare ◽  
Louis M. Aledort
Keyword(s):  
Systematic Review ◽  
Risk Factor ◽  
Pregnancy Loss ◽  
Meta Analysis ◽  
Fetal Loss ◽  
Mthfr C677t ◽  
Early Pregnancy Loss ◽  
C677t Mutation ◽  
Recurrent Early Pregnancy Loss ◽  
In Pregnancy

Abstract Various hereditary thrombophilias such as activated protein C resistance, the factor V leiden mutation, the prothrombin G20210A mutation, protein S deficiency, hyperhomocysteinemia, or combinations of the above disorders have been linked to pregnancy loss at varying stages of gestation (Robertson L, et al. Thrombophilia in pregnancy: a systematic review. Br J Haematol2006;132(2):171–96; Seligsohn U, et al. Genetic susceptibility to venous thrombosis. N Engl J Med2001;344(16):1222–31). The literature regarding methylenetetrahydrofolate reductase (MTHFR) mutations is confusing. Much of the evidence supporting a causal relationship between MTHFR mutations and early fetal loss comes from individual case reports with little outcome data. Three recent meta-analyses of thrombophilia in pregnancy concluded that although there may be a trend toward higher risk, the relationship between MTHFR mutations and spontaneous abortions is not truly significant (Robertson L, et al. Thrombophilia in pregnancy: a systematic review. Br J Haematol2006;132(2):171–96; Nelen WL, et al. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril2000;74(6):1196–9; Rey E, et al. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet2003;361(9361):901–8). In contrast, a study supporting the role of MTHFR mutations in recurrent unexplained abortions found a 2–3 fold increased risk of early fetal loss among Caucasian females homozygous for the C677T mutation versus normal controls (Nelen WL, et al. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet1997;350(9081):861). We present 5 patients with this genetic defect who presented consecutively to our clinic for decision making for future pregnancies. Each had strong histories of miscarriages after the 8th week of gestation. The clinical features of these patients are reported in the table below. Each woman is Caucasian, and is homozygous for the MTHFR C677T mutation with no other acquired or hereditary thrombophilias. Homocysteine levels were also in normal range for each patient. Our case series of 5 Caucasian women gives support to the theory of a causal relationship between MTHFR mutations and fetal loss. We recommended anticoagulation with low-molecular weight or unfractionated heparin for each patient as a therapeutic intervention to reduce the risk of recurrent abortion in future pregnancies.

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