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The Cochrane Database of Systematic... Mar 2018Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell... (Review)
Review
BACKGROUND
Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review.
OBJECTIVES
To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.
SEARCH METHODS
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 20 June 2017.Date of latest search of all other sources: 16 November 2017.
SELECTION CRITERIA
Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care.
DATA COLLECTION AND ANALYSIS
We identified 25 papers, describing 16 unique trials which were potentially eligible for inclusion in the review. However, after assessment, no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found.
MAIN RESULTS
No randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were included. One ongoing trial has been identified which may potentially eligible for inclusion once completed.
AUTHORS' CONCLUSIONS
As no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease were found for inclusion in this review, the research evidence for current policy recommendations is limited to non-randomised studies.Information from well-designed, adequately powered, randomised trials is desirable in order to make more robust recommendations for practice. However, such trials must also consider the legal, ethical, and cultural barriers to implementation of preconception genetic risk assessment.
Topics: Anemia, Sickle Cell; Cystic Fibrosis; Female; Genetic Carrier Screening; Humans; Preconception Care; Risk Assessment; Tay-Sachs Disease; Thalassemia
PubMed: 29537064
DOI: 10.1002/14651858.CD010849.pub3 -
BMC Public Health Mar 2023The preconception period represents transgenerational opportunities to optimize modifiable risk factors associated with both short and long-term adverse health outcomes...
BACKGROUND
The preconception period represents transgenerational opportunities to optimize modifiable risk factors associated with both short and long-term adverse health outcomes for women, men, and children. As such, preconception care is recommended to couples during this time to enable them to optimise their health in preparation for pregnancy. Historically, preconception research predominately focuses on maternal modifiable risks and health behaviours associated with pregnancy and offspring outcomes; limited attention has been given to inform paternal preconception health risks and outcomes. This systematic review aims to advance paternal preconception research by synthesising the current evidence on modifiable paternal preconception health behaviours and risk factors to identify associations with pregnancy and/or offspring outcomes.
METHODS
Medline, Embase, Maternity and Infant care, CINAHL, PsycINFO, Scopus, and ISI Proceedings were searched on the 5 of January 2023, a date limit was set [2012-2023] in each database. A Google Scholar search was also conducted identifying all other relevant papers. Studies were included if they were observational, reporting associations of modifiable risk factors in the preconception period among males (e.g., identified as reproductive partners of pregnant women and/or fathers of offspring for which outcomes were reported) with adverse pregnancy and offspring outcomes. Study quality was assessed using the Newcastle-Ottawa Scale. Exposure and outcome heterogeneity precluded meta-analysis, and results were summarised in tables.
RESULTS
This review identified 56 cohort and nine case control studies. Studies reported on a range of risk factors and/or health behaviours including paternal body composition (n = 25), alcohol intake (n = 6), cannabis use (n = 5), physical activity (n = 2), smoking (n = 20), stress (n = 3) and nutrition (n = 13). Outcomes included fecundability, IVF/ISCI live birth, offspring weight, body composition/BMI, asthma, lung function, leukemia, preterm birth, and behavioural issues. Despite the limited number of studies and substantial heterogeneity in reporting, results of studies assessed as good quality showed that paternal smoking may increase the risk of birth defects and higher paternal BMI was associated with higher offspring birthweight.
CONCLUSION
The current evidence demonstrates a role of paternal preconception health in influencing outcomes related to pregnancy success and offspring health. The evidence is however limited and heterogenous, and further high-quality research is needed to inform clinical preconception care guidelines to support men and couples to prepare for a health pregnancy and child.
Topics: Male; Child; Pregnancy; Humans; Female; Infant, Newborn; Premature Birth; Preconception Care; Risk Factors; Fathers; Birth Weight; Live Birth
PubMed: 36927694
DOI: 10.1186/s12889-023-15335-1 -
American Journal of Preventive Medicine Feb 2015Maternal pregestational diabetes (PGDM) is a risk factor for development of congenital heart defects (CHDs). Glycemic control before pregnancy reduces the risk of CHDs.... (Meta-Analysis)
Meta-Analysis Review
CONTEXT
Maternal pregestational diabetes (PGDM) is a risk factor for development of congenital heart defects (CHDs). Glycemic control before pregnancy reduces the risk of CHDs. A meta-analysis was used to estimate summary ORs and mathematical modeling was used to estimate population attributable fractions (PAFs) and the annual number of CHDs in the U.S. potentially preventable by establishing glycemic control before pregnancy.
EVIDENCE ACQUISITION
A systematic search of the literature through December 2012 was conducted in 2012 and 2013. Case-control or cohort studies were included. Data were abstracted from 12 studies for a meta-analysis of all CHDs.
EVIDENCE SYNTHESIS
Summary estimates of the association between PGDM and CHDs and 95% credible intervals (95% CrIs) were developed using Bayesian random-effects meta-analyses for all CHDs and specific CHD subtypes. Posterior estimates of this association were combined with estimates of CHD prevalence to produce estimates of PAFs and annual prevented cases. Ninety-five percent uncertainty intervals (95% UIs) for estimates of the annual number of preventable cases were developed using Monte Carlo simulation. Analyses were conducted in 2013. The summary OR estimate for the association between PGDM and CHDs was 3.8 (95% CrI=3.0, 4.9). Approximately 2670 (95% UI=1795, 3795) cases of CHDs could potentially be prevented annually if all women in the U.S. with PGDM achieved glycemic control before pregnancy.
CONCLUSIONS
Estimates from this analysis suggest that preconception care of women with PGDM could have a measureable impact by reducing the number of infants born with CHDs.
Topics: Blood Glucose; Female; Heart Defects, Congenital; Humans; Models, Statistical; Monte Carlo Method; Pregnancy; Pregnancy in Diabetics
PubMed: 25326416
DOI: 10.1016/j.amepre.2014.09.002 -
PloS One 2021As the studies show, in every minute in the world, 380 women become pregnant and 190 face unplanned or unwanted pregnancies; 110 experience pregnancy-related... (Meta-Analysis)
Meta-Analysis
BACKGROUND
As the studies show, in every minute in the world, 380 women become pregnant and 190 face unplanned or unwanted pregnancies; 110 experience pregnancy-related complications, and one woman dies from a pregnancy-related cause. Preconception care is one of the proven strategies for the reduction in mortality and decreases the risk of adverse health effects for the woman, fetus, and neonate by optimizing maternal health services and improves woman's health. Therefore, this study aimed to estimate the pooled prevalence of utilization of preconception of care and associated factors in Africa.
METHODS
Systematic search of published studies done on PubMed, EMBASE, MEDLINE, Cochrane, Scopus, Web of Science CINAHL, and manually on Google Scholar. This meta-analysis follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The quality of studies was assessed by the modified Newcastle-Ottawa Scale (NOS). Meta-analysis was carried out using a random-effects method using the STATA™ Version 14 software.
RESULT
From 249,301 obtained studies, 28 studies from 3 African regions involving 13067 women included in this Meta-analysis. The overall pooled prevalence of utilization of preconception care among pregnant women in Africa was found to be 18.72% (95% CI: 14.44, 23.00). Knowledge of preconception care (P = <0.001), preexisting medical condition (P = 0.045), and pregnancy intention (P = 0.016) were significantly associated with the utilization of preconception care.
CONCLUSION
The results of this meta-analysis indicated, as one of best approaches to improve birth outcomes, the utilization of preconception care is significantly low among mothers in Africa. Therefore, health care organizations should work on strategies to improve preconception care utilization.
Topics: Africa; Facilities and Services Utilization; Female; Humans; Mothers; Preconception Care; Pregnancy; Pregnant Women; Quality of Health Care
PubMed: 34297760
DOI: 10.1371/journal.pone.0254935 -
The Cochrane Database of Systematic... Aug 2015Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell... (Review)
Review
BACKGROUND
Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting.
OBJECTIVES
To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.
SEARCH METHODS
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 25 June 2015.Date of latest search of all other sources: 10 December 2014.
SELECTION CRITERIA
Any randomised or quasi-randomised control trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care.
DATA COLLECTION AND ANALYSIS
We identified 19 papers, describing 13 unique trials which were potentially eligible for inclusion in the review. However, after assessment, no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found.
MAIN RESULTS
No randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found.
AUTHORS' CONCLUSIONS
As no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease were found for inclusion in this review, the research evidence for current policy recommendations is limited to non-randomised studies.Information from well-designed, adequately powered, randomised trials is desirable in order to make more robust recommendations for practice. However, such trials must also consider the legal, ethical, and cultural barriers to implementation of preconception genetic risk assessment.
Topics: Anemia, Sickle Cell; Cystic Fibrosis; Female; Genetic Carrier Screening; Humans; Preconception Care; Risk Assessment; Tay-Sachs Disease; Thalassemia
PubMed: 26264938
DOI: 10.1002/14651858.CD010849.pub2 -
Preventive Medicine Reports Jun 2019The aim of this study was to conduct a systematic mapping review of the literature that explored associations of pregnancy intentions with health-related lifestyle... (Review)
Review
The aim of this study was to conduct a systematic mapping review of the literature that explored associations of pregnancy intentions with health-related lifestyle behaviours and psychological wellbeing before and during pregnancy. Six databases were searched (May 2017) for papers relating to pregnancy intentions, health-related lifestyle behaviours, and psychological wellbeing. The literature was mapped according to the preconception or pregnancy period; prospective or retrospective variable assessment; and reported lifestyle behaviours and psychological wellbeing outcomes. Of 19,430 retrieved records, 303 studies were eligible. Pregnancy intentions were considered during the preconception period in 103 studies (only 23 assessed prospectively), and during the pregnancy period in 208 studies (141 prospectively). Associations between pregnancy intention and preconception behaviours/psychological wellbeing were primarily reported for supplement use (n = 58) and were lacking for diet/exercise, and psychological factors. For behaviours/psychological wellbeing during pregnancy, associations with pregnancy intention were focused on prenatal care (n = 79), depression (n = 61), and smoking (n = 56) and were lacking for diet/exercise. Only 7 studies assessed pregnancy intentions with a validated tool. Despite a large body of literature, there were several methodological limitations identified, namely assessment of pregnancy intentions with non-validated measures and the reliance on retrospective assessment. Future primary studies are needed to fill gaps in our understanding regarding energy-balance-related behaviours. Future studies (including reviews/meta-analyses) should take care to address the noted limitations to provide a comprehensive and accurate understanding of the relationships between pregnancy intentions and health-related lifestyle behaviours and psychological wellbeing before and during pregnancy.
PubMed: 31011520
DOI: 10.1016/j.pmedr.2019.100869 -
Frontiers in Pediatrics 2023Several studies have been conducted on structural congenital anomalies (CA). However, there is a paucity of studies that provide a comprehensive review of structural... (Review)
Review
BACKGROUND
Several studies have been conducted on structural congenital anomalies (CA). However, there is a paucity of studies that provide a comprehensive review of structural anomalies. We aimed to verify the available research articles to pool the possible risk factors of structural CA in resource-limited settings.
SETTING
The research articles were genuinely searched using PubMed, Scopus, Cochrane Library, Web of Science, free Google database search engines, Google Scholar, and ScienceDirect databases. Published studies were searched and screened for inclusion in the final analysis, and studies without sound methodologies and review and meta-analysis were not included in the analysis.
PARTICIPANTS
This review analyzed data from 95,755 women who gave birth as reported by primary studies. Ten articles were included in this systematic review and meta-analysis. The articles that had incomplete information and case reports were excluded from the study.
RESULTS
The overall pooled effect estimate (EI) of structural CA was 5.50 (4.88-6.12) per 100 births. In this systematic review and meta-analysis, maternal illness EI with odds ratio (OR) = 4.93 (95% CI: 1.02-8.85), unidentified drug use with OR = 2.83 (95% CI: 1.19-4.46), birth weight with OR = 4.20 (95% CI: 2.12-6.28), chewing chat with OR = 3.73 (95% CI: 1.20-6.30), chemical exposure with OR = 4.27 (95% CI: 1.19-8.44), and taking folic acid tablet during pregnancy with OR = 6.01 (95% CI: 2.87-14.89) were statistically significant in this meta-regression.
CONCLUSIONS
The overall pooled effect estimate of structural CA in a resource-limited setting was high compared to that in countries with better resources. Maternal illness, unidentified drug use, birth weight, chewing chat, chemical exposure, and never using folic acid were found to be statistically significant variables in the meta-regression. Preconception care and adequate intake of folic acid before and during early pregnancy should be advised.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022384838.
PubMed: 38027285
DOI: 10.3389/fped.2023.1146384 -
PloS One 2023Maternal folic acid supplementation is protective against the development of neural tube defects (NTDs) in babies. However, recent public-facing communications have...
BACKGROUND
Maternal folic acid supplementation is protective against the development of neural tube defects (NTDs) in babies. However, recent public-facing communications have raised concerns about a causal relationship between folic acid supplementation, particularly after the first trimester, and ankyloglossia (tongue-tie) in infants. Non-evidence-based communications are potentially harmful because they could adversely affect adherence to folic acid supplementation, increasing NTD occurrence. This study aimed to review evidence on the relationships between maternal folic acid supplementation during preconception and/or pregnancy and the risk of ankyloglossia in infants.
METHODS
We searched the databases MEDLINE, EMBASE, Cochrane CENTRAL, and Scopus. We searched for observational, and interventional studies, and systematic reviews investigating the effect of maternal folic acid supplementation during preconception or pregnancy on the occurrence of ankyloglossia in offspring. The search was registered on PROSPERO on 01/12/2022, ID: CRD42022375862.
RESULTS
The database searches yielded 93 articles. After removing duplicates and screening titles and abstracts, 26 remained. One article was judged relevant for inclusion in analyses; a case-control study that directly mentions the relationship between folic acid supplementation and ankyloglossia. This study reported that regular intake of folic acid supplements was higher in women with infants with ankyloglossia. However, this study has limitations regarding design, selection bias, and confounding, calling the findings into question.
CONCLUSIONS
Insufficient evidence exists for a relationship between folic acid supplementation and ankyloglossia. Currently, the benefits of folic acid supplementation far outweigh the risks. This must be clearly communicated to patients by their clinicians during preconception and antenatal care.
Topics: Female; Pregnancy; Infant; Humans; Ankyloglossia; Case-Control Studies; Folic Acid; Dietary Supplements; Neural Tube Defects; Tongue
PubMed: 37922258
DOI: 10.1371/journal.pone.0294042 -
BMC Women's Health 2015There is growing evidence that preconception care may have an important role in preventing short and long term adverse health consequences for women and their offspring.... (Review)
Review
BACKGROUND
There is growing evidence that preconception care may have an important role in preventing short and long term adverse health consequences for women and their offspring. This is particularly the case for women with chronic health conditions due to the rising prevalence of chronic disease in global populations. With this in mind, this paper presents an integrative systematic review of contemporary research outlining the use of preconception services and practices by women with chronic health conditions.
METHODS
A search was conducted through PubMed, CINAHL, AMED, and Maternity and Infant Care databases which identified 672 papers examining preconception care and preconception services for women with chronic health conditions. Fourteen papers which were written in English, presented original research, and reported on the prevalence or nature of use of preconception care by women with chronic health conditions were included in the review. Critical appraisal of study quality and thematic categorical grouping of identified papers was undertaken.
RESULTS
Current research evidence, as identified through this review, examines three major topic areas: the prevalence of preconception care practices, use of services and characteristics of users; knowledge of the value and impact of preconception care and availability of preconception services for women with chronic health conditions; and women's attitudes, approaches and experiences of preconception care and preconception services. Prevalence estimates of engagement with preconception care range between 18.1% and 45%, with most studies focusing on women with type 1 or 2 diabetes. Significant gaps in women's knowledge of preconception care for women with chronic health conditions were also identified. Women with chronic health conditions reported experiencing emotional distress as a result of their engagement with preconception care services. They also commonly described feeling a need to employ discipline to comply with preconception care programs, and experiencing a fear of pregnancy complications.
CONCLUSION
Future research requires a broad and sophisticated approach to research design and analysis, improved consideration of temporal changes to women's health behaviour, representative samples to more effectively inform health policy, and a deeper understanding of women's motivations, attitudes and perceptions of preconception care to assist in the development of tailored preconception health services.
Topics: Adult; Cardiovascular Diseases; Chronic Disease; Depressive Disorder; Female; Health Knowledge, Attitudes, Practice; Humans; Obesity; Preconception Care; Pregnancy; Pregnancy Complications; Pregnancy in Diabetics; Prevalence; Thyroid Diseases; Women's Health Services
PubMed: 25783639
DOI: 10.1186/s12905-015-0165-6 -
Human Resources For Health Apr 2021Well-trained, competent, and motivated human resources for health (HRH) are crucial to delivering quality service provision across the sexual, reproductive, maternal,... (Review)
Review
How can human resources for health interventions contribute to sexual, reproductive, maternal, and newborn healthcare quality across the continuum in low- and lower-middle-income countries? A systematic review.
BACKGROUND
Well-trained, competent, and motivated human resources for health (HRH) are crucial to delivering quality service provision across the sexual, reproductive, maternal, and newborn health (SRMNH) care continuum to achieve the 2030 Sustainable Development Goals (SDGs) maternal and neonatal health targets. This review aimed to identify HRH interventions to support lay and/or skilled personnel to improve SRMNH care quality along the continuum in low- and lower-middle-income countries (LLMICs).
METHODS
A structured search of CINAHL, Cochrane Library/trials, EMBASE, PubMed, SCOPUS, Web of Science, and HRH Global Resource Centre databases was undertaken, guided by the PRISMA framework. The inclusion criteria sought to identify papers with a focus on 1. HRH management, leadership, partnership, finance, education, and/or policy interventions; 2. HRH interventions' impact on two or more quality SRMNH care packages across the continuum from preconception to pregnancy, intrapartum and postnatal care; 3. Skilled and/or lay personnel; and 4. Reported primary research in English from LLMICs. A deductive qualitative content analysis was employed using the World Health Organization-HRH action framework.
RESULTS
Out of identified 2157 studies, 24 intervention studies were included in the review. Studies where ≥ 4 HRH interventions had been combined to target various healthcare system components, were more effective than those implementing ≤ 3 HRH interventions. In primary care, HRH interventions involving skilled and lay personnel were more productive than those involving either skilled or lay personnel alone. Results-based financing (RBF) and its policy improved the quality of targeted maternity services but had no impact on client satisfaction. Local budgeting, administration, and policy to deliver financial incentives to health workers and improve operational activities were more efficacious than donor-driven initiatives. Community-based recruitment, training, deployment, empowerment, supportive supervision, access to m-Health technology, and modest financial and non-financial incentives for community health workers (CHWs) improved the quality of care continuum. Skills-based, regular, short, focused, onsite, and clinical simulation, and/or mobile phone-assisted in-service training of skilled personnel were more productive than knowledge-based, irregular, and donor-funded training. Facility-based maternal and perinatal death reviews, coupled with training and certification of skilled personnel, positively affected SRMNH care quality across the continuum. Preconception care, an essential component of the SRMNH care continuum, lacks studies and services in LLMICs.
CONCLUSIONS
We recommend maternal and perinatal death audits in all health facilities; respectful, woman-centered care as a critical criterion of RBF initiatives; local administration of health worker allowances and incentives; and integration of CHWs into the healthcare system. There is an urgent need to include preconception care in the SRMNH care continuum and studies in LLMICs.
Topics: Community Health Workers; Developing Countries; Female; Humans; Infant, Newborn; Poverty; Pregnancy; Quality of Health Care; Workforce
PubMed: 33882968
DOI: 10.1186/s12960-021-00601-3