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American Journal of Epidemiology (1)
BMC Research Notes (1)
Journal of Community Genetics (1)
PLoS Medicine (1)
Sagoo, Gurdeep S (2)
Sagoo, Gurdeep S. (2)
Alberg, Corinna (1)
Barbero, Pablo (1)
Gouda, Hebe N. (1)
Groisman, Boris (1)
Harding, Anne-Helen (1)
Higgins, Julian P. T (1)
Higgins, Julian P. T. (1)
Higgins, Julian PT (1)
Liascovich, Rosa (1)
Little, Julian (1)
Moorthie, Sowmiya (1)
Nacul, Luis (1)
Sandhu, Manjinder S. (1)
Wei, Yinghui (1)
Wright, Caroline F (1)
Yates, Jan (1)
Year of Publication
The use of a Toolkit for health needs assessment on neural tube defects in Argentina
Journal of Community Genetics
Health needs assessment (HNA) is a commonly used process for those working in public health. The PHG Foundation has developed a Toolkit to provide users with a stepwise approach for undertaking a HNA on birth defects. We report the findings from using the Toolkit to examine needs in relation to policies and programs, services, and interventions for neural tube defects (NTDs) in Argentina. The trend over the last few decades is one of decline in infant mortality from nutritional and infectious causes, thus further increasing the relative importance of birth defects. The observed prevalence of NTDs is consistent with that reported internationally. Since 2002 folic acid fortification (FAF) has been mandatory by law, and different studies have shown at least a 50 % decrease in the birth prevalence of NTDs after FAF. In Argentina, there is inequity between the public and non-public health sectors. The birth prevalence of NTDs seems lower in the non-public sector, possibly as a result of better nutritional status of women, higher access to folic acid supplementation, and earlier prenatal diagnosis followed by termination of pregnancy (ToP) in non-public hospitals. Although illegal, ToP is believed to be widespread, with better access for people of higher socioeconomic status. Through the process of HNA, we identified several unmet needs regarding registration of cases, public and professional education, legislation, and organization of care pathways. In our experience, the Toolkit brought together people working on the same issue, and it engaged and motivated experts and stakeholders to work together to tackle the problem.
Health needs assessment; Argentina; Neural tube defects; Health services; Interventions
Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis
Wright, Caroline F
Higgins, Julian PT
BMC Research Notes
Cell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE), EMBASE, the Cochrane library and Web of Science.
Ninety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7%) and mean specificity was 98.9% (95% CI = 98.1% to 99.4%). These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high.
Based on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.
Cell-free fetal DNA; Meta-analysis; Non-invasive prenatal diagnosis
The Association Between the Peroxisome Proliferator-Activated Receptor-γ2 (PPARG2) Pro12Ala Gene Variant and Type 2 Diabetes Mellitus: A HuGE Review and Meta-Analysis
Gouda, Hebe N.
Sandhu, Manjinder S.
Higgins, Julian P. T.
American Journal of Epidemiology
The peroxisome proliferator-activated receptor-γ gene (PPARG) has been implicated in the etiology of type 2 diabetes mellitus and has been investigated in numerous epidemiologic studies. In this Human Genome Epidemiology review, the authors assessed this relation in an updated meta-analysis of 60 association studies. Electronic literature searches were conducted on September 14, 2009. Population-based cohort, case-control, cross-sectional, or genome-wide association studies reporting associations between the PPARG Pro12Ala gene variant (rs1801282) and type 2 diabetes were included. An updated literature-based meta-analysis involving 32,849 type 2 diabetes cases and 47,456 controls in relation to the PPARG Pro12Ala variant was conducted. The combined overall odds ratio, calculated by per-allele genetic model random-effects meta-analysis for type 2 diabetes and the Pro12Ala polymorphism, was 0.86 (95% confidence interval: 0.81, 0.90). The analysis indicated a moderate level of heterogeneity attributable to genuine variation in gene effect size (I2 = 37%). This may reflect the variation observed between ethnic populations and/or differences in body mass index. Work on PPARG Pro12Ala should now focus on the observed heterogeneity in the magnitude of the association between populations. Further investigations into gene-gene and gene-environment interactions may prove enlightening.
diabetes mellitus, type 2; epidemiology; genetics; genome, human; meta-analysis; PPAR gamma; review
Systematic Reviews of Genetic Association Studies
Higgins, Julian P. T
Gurdeep S. Sagoo and colleagues describe key components of the methodology for undertaking systematic reviews and meta-analyses of genetic association studies.
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