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The Cochrane Database of Systematic... Oct 2021Globally, about 6% of children are born with a serious birth defect of genetic or partially genetic origin. Carrier screening or testing is one way to identify couples... (Review)
Review
BACKGROUND
Globally, about 6% of children are born with a serious birth defect of genetic or partially genetic origin. Carrier screening or testing is one way to identify couples at increased risk of having a child with an autosomal recessive condition. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in high-risk populations of specific ancestral backgrounds. 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 testing 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 enable autonomous reproductive choice and to improve reproductive outcomes in women and their partners who are both 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. Date of latest search of the registers: 04 August 2021. 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lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.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 all these sources: 25 June 2021. SELECTION CRITERIA: Any randomised controlled trials (RCTs) or quasi-RCTs (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs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 37 papers, describing 22 unique trials which were potentially eligible for inclusion in the review. However, after assessment, we found no RCTs of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
MAIN RESULTS
No RCTs of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease are included. A trial identified earlier has published its results and has subsequently been listed as excluded in this review.
AUTHORS' CONCLUSIONS
As there are no RCTs of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease included in either the earlier or current versions of this review, we recommend considering potential non-RCTs studies (for example prospective cohorts or before-and-after studies) for future reviews. While RCTs are desirable to inform evidence-based practice and robust recommendations, the ethical, legal and social implications associated with using this trial design to evaluate the implementation of preconception genetic risk assessment involving carrier testing and reproductive autonomy must also be considered. In addition, rather than focusing on single gene-by-gene carrier testing for specific autosomal-recessive conditions as the intervention being evaluated, preconception expanded genetic screening should also be included in future searches as this has received much attention in recent years as a more pragmatic strategy. The research evidence for current international policy recommendations is limited to non-randomised studies.
Topics: Anemia, Sickle Cell; Cystic Fibrosis; Female; Humans; Risk Assessment; Tay-Sachs Disease; Thalassemia
PubMed: 34634131
DOI: 10.1002/14651858.CD010849.pub4 -
American Journal of Obstetrics and... Oct 2022This study aimed to systematically assess the impact of cardiomyopathy on maternal pregnancy outcomes. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This study aimed to systematically assess the impact of cardiomyopathy on maternal pregnancy outcomes.
DATA SOURCES
PubMed, Ovid Embase, Ovid MEDLINE, Cochrane Library, and ClinicalTrials.gov were systematically searched from inception to April 24, 2022.
STUDY ELIGIBILITY CRITERIA
Observational cohort, case-control, and case-cohort studies in human populations were included if they reported predefined maternal outcomes for pregnant women with cardiomyopathy (any subtype) and for an appropriate control population (pregnant women with no known heart disease or pregnant women with noncardiomyopathy heart disease).
METHODS
Two reviewers independently assessed the articles for eligibility and risk of bias, and conflicts were resolved by a third reviewer. Data were extracted and synthesized according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and Meta-Analyses of Observational Studies in Epidemiology guidelines.
RESULTS
A total of 14 studies (n=57,539,306 pregnancies) were eligible for inclusion. Women with cardiomyopathy were more likely to deliver by cesarean delivery than women with no heart disease (odds ratio, 2.96; 95% confidence interval, 2.47-3.55; I=95%; P≤.00001) or women with noncardiomyopathy heart disease (odds ratio, 1.90; 95% confidence interval, 1.62-2.22; I=91%; P<.00001). Having cardiomyopathy conferred a greater risk for experiencing severe maternal adverse cardiovascular events during pregnancy when compared with not having any heart disease (odds ratio, 206.64; 95% confidence interval, 192.09-222.28; I=73%; P<.0001) or having noncardiomyopathy heart disease (odds ratio, 7.09; 95% confidence interval; 6.08-8.27; I=88%; P<.00001). In-hospital mortality was significantly higher among women with cardiomyopathy than among women with no heart disease (odds ratio, 126.67; 95% confidence interval, 43.01-373.07; I=87%; P<.00001) or among women with noncardiomyopathy heart disease (odds ratio, 4.30; 95% confidence interval, 3.42-5.40; I=0%; P<.00001).
CONCLUSION
Pregnant women with cardiomyopathy have increased risks for adverse maternal outcomes, including maternal death, when compared with both women with no heart disease and women with noncardiomyopathy heart disease. Our results highlight the importance of preconception risk assessments to allow for informed decision-making before pregnancy. Pregnancies affected by cardiomyopathy are high risk and should be managed by expert, multidisciplinary obstetrical and cardiology teams.
Topics: Cardiomyopathies; Cesarean Section; Female; Humans; Odds Ratio; Pregnancy; Pregnancy Complications; Pregnancy Outcome
PubMed: 35609641
DOI: 10.1016/j.ajog.2022.05.039 -
Indian Pediatrics Apr 2024The preconception period is the earliest window of opportunity to ensure optimal human development. Pregnancy and childbirth outcomes can be improved by interventions... (Review)
Review
JUSTIFICATION
The preconception period is the earliest window of opportunity to ensure optimal human development. Pregnancy and childbirth outcomes can be improved by interventions offered to support the health and well-being of women and couples prior to conception. Thus, preconception care is essential in preparing for the first thousand days of life. Adolescence, the stage of life that typically comes before the preconception stage, is characterized by various high-risk behaviors like substance abuse, sexual experimentation, injuries, obesity, and mental health issues which can adversely affect their health in adult life. Thus, a Consensus Guideline for pediatricians on providing preconception care to adolescents and young adults can go a long way in making the generations to come, healthier and more productive.
OBJECTIVES
The purpose of these recommendations is to formulate an evidence-based Consensus Statement that can serve as a guidance for medical professionals to provide preconception care for young adults and adolescents.
INTENDED USERS
All obstetric, pediatric, and adolescent health care providers.
TARGET POPULATION
Adolescents and young adults.
PROCESS
A large proportion of adolescents seek care from pediatricians and there is a lack of Consensus Guidelines on preconception care. Therefore, the Indian Academy of Pediatrics called an online National Consultative Meeting on April 03, 2023, under the chairmanship of Dr MKC Nair and the National Convenor Dr Himabindu Singh. A group of pediatricians with wide experience and expertise in adolescent health care were assigned the task of formulating evidence-based guidelines on preconception care. The group conducted a comprehensive review of existing evidence by searching resources including PubMed and Cochrane databases. Subsequently, a physical meeting was held at Amritsar on October 07, 2023 during which the consensus was reached through discussions and voting. The level of evidence (LoE) of each recommendation was graded as per the Oxford Centre for Evidence-Based Medicine (OCEBM) 2011.
RECOMMENDATIONS
Every woman planning a pregnancy needs to attain and maintain a eumetabolic state. Prospective couples need to be counselled on the importance of a healthy lifestyle including a nutritious diet, avoidance of substance abuse, and timely screening for genetic disorders. Screening for and management of sexually transmitted diseases in males and females, appropriate vaccination and addressing mental health concerns are also recommended.
Topics: Adolescent; Female; Humans; Male; Pregnancy; Young Adult; Asian People; Consensus; Preconception Care; Prospective Studies; Substance-Related Disorders
PubMed: 38597099
DOI: No ID Found -
Midwifery Aug 2023The widespread availability of reproductive technology and family planning services has led to an increase in the number of available pathways to parenthood for LGBTIQA+...
Experiences in the delivery of preconception and pregnancy care for LGBTIQA+ people: A systematic review and thematic synthesis of patient and healthcare provider perspectives.
BACKGROUND
The widespread availability of reproductive technology and family planning services has led to an increase in the number of available pathways to parenthood for LGBTIQA+ people. However, emerging research indicates that significant healthcare inequities have been documented among LGBTIQA+ people and attributed to the pervasiveness of structural and systemic discrimination that extends to preconception and pregnancy care.
AIM
The aim of this systematic review was to synthesise qualitative research that has explored the experiences of LGBTIQA+ people in navigating preconception and pregnancy care services to inform healthcare quality improvement.
METHOD
Six databases were searched for relevant research published between 2012 and 2023. The findings of all included studies underwent a secondary thematic synthesis, and methodological quality was assessed using the Joanna Briggs Institute Checklist for Qualitative Research.
FINDINGS
A total of 37 studies were eligible for inclusion. Four major themes were constructed through thematic synthesis: (1) unavailability of information, services, and support; (2) clinical competencies of healthcare staff; (3) hetero- and cis-sexist care experiences; and (4) discrimination and traumatisation.
CONCLUSIONS AND IMPLICATIONS FOR PRACTICE
The findings of this review indicate that LGBTIQA+ people experience significant challenges during the journey towards parenthood, marked predominantly by the pervasiveness of inequity, and defined by discriminatory healthcare processes. This review has led to several recommendations for future healthcare quality improvement through an investment in policies, procedures, and interactions that are sensitive to the needs of LGBTIQA+ people. Importantly, future research must be co-designed and led by LGBTIQA+ community input.
Topics: Pregnancy; Female; Humans; Delivery of Health Care; Prenatal Care; Qualitative Research; Clinical Competence; Health Personnel
PubMed: 37178659
DOI: 10.1016/j.midw.2023.103712 -
PloS One 2024Preconception health provides an opportunity to examine a woman's health status and address modifiable risk factors that can impact both a woman's and her child's health... (Review)
Review
Exploring preconception health in adolescents and young adults: Identifying risk factors and interventions to prevent adverse maternal, perinatal, and child health outcomes-A scoping review.
BACKGROUND
Preconception health provides an opportunity to examine a woman's health status and address modifiable risk factors that can impact both a woman's and her child's health once pregnant. In this review, we aimed to investigate the preconception risk factors and interventions of early pregnancy and its impact on adverse maternal, perinatal and child health outcomes.
METHODS
We conducted a scoping review following the PRISMA-ScR guidelines to include relevant literature identified from electronic databases. We included reviews that studied preconception risk factors and interventions among adolescents and young adults, and their impact on maternal, perinatal, and child health outcomes. All identified studies were screened for eligibility, followed by data extraction, and descriptive and thematic analysis.
FINDINGS
We identified a total of 10 reviews. The findings suggest an increase in odds of maternal anaemia and maternal deaths among young mothers (up to 17 years) and low birth weight (LBW), preterm birth, stillbirths, and neonatal and perinatal mortality among babies born to mothers up to 17 years compared to those aged 19-25 years in high-income countries. It also suggested an increase in the odds of congenital anomalies among children born to mothers aged 20-24 years. Furthermore, cancer treatment during childhood or young adulthood was associated with an increased risk of preterm birth, LBW, and stillbirths. Interventions such as youth-friendly family planning services showed a significant decrease in abortion rates. Micronutrient supplementation contributed to reducing anaemia among adolescent mothers; however, human papillomavirus (HPV) and herpes simplex virus (HSV) vaccination had little to no impact on stillbirths, ectopic pregnancies, and congenital anomalies. However, one review reported an increased risk of miscarriages among young adults associated with these vaccinations.
CONCLUSION
The scoping review identified a scarcity of evidence on preconception risk factors and interventions among adolescents and young adults. This underscores the crucial need for additional research on the subject.
Topics: Humans; Pregnancy; Infant, Newborn; Infant; Adolescent; Young Adult; Female; Child; Adult; Stillbirth; Premature Birth; Preconception Care; Risk Factors; Mothers; Anemia; Outcome Assessment, Health Care
PubMed: 38630699
DOI: 10.1371/journal.pone.0300177 -
PloS One 2020Pre-gestational diabetes mellitus is associated with increased risk of maternal and perinatal adverse outcomes. This systematic review was conducted to evaluate the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Pre-gestational diabetes mellitus is associated with increased risk of maternal and perinatal adverse outcomes. This systematic review was conducted to evaluate the effectiveness and safety of pre-conception care (PCC) in improving maternal and perinatal outcomes.
METHODS
Databases from MEDLINE, EMBASE, WEB OF SCIENCE, and Cochrane Library were searched, including the CENTRAL register of controlled trials, and CINHAL up until March 2019, without any language restrictions, for any pre-pregnancy care aiming at health promotion, glycemic control, and screening and treatment of diabetes complications in women with type I or type II pre-gestational diabetes. Trials and observational studies were included in the review. Newcastle-Ottawa scale and the Cochrane collaboration methodology for data synthesis and analysis were used, along with the GRADE tool to evaluate the body of evidence.
RESULTS
The search identified 8500 potentially relevant citations of which 40 reports of 36 studies were included. The meta-analysis results show that PCC reduced congenital malformations risk by 71%, (Risk ratio (RR) 0.29; 95% CI: 0.21-0.40, 25 studies; 5903 women; high-certainty evidence). The results also show that PCC may lower HbA1c in the first trimester of pregnancy by an average of 1.27% (Mean difference (MD) 1.27; 95% CI: 1.33-1.22; 4927 women; 24 studies, moderate-certainty evidence). Furthermore, the results suggest that PCC may lead to a slight reduction in the risk of preterm delivery of 15%, (RR 0.85; 95% CI: 0.73-0.99; nine studies, 2414 women; moderate-certainty evidence). Moreover, PCC may result in risk reduction of perinatal mortality by 54%, (RR 0.46; 95% CI: 0.30-0.73; ten studies; 3071 women; moderate-certainty evidence). There is uncertainty about the effects of PCC on the early booking for antenatal care (MD 1.31; 95% CI: 1.40-1.23; five studies, 1081 women; very low-certainty evidence) and maternal hypoglycemia in the first trimester, (RR 1.38; 95% CI: 1.07-1.79; three studies; 686 women; very low- certainty evidence). In addition, results of the meta-analysis indicate that PCC may lead to 48% reduction in the risk of small for gestational age (SGA) (RR 0.52; 95% CI: 0.37-0.75; six studies, 2261 women; moderate-certainty evidence). PCC may reduce the risk of neonatal admission to intensive care unit (NICU) by 25% (RR 0.75; 95% CI: 0.67-0.84; four studies; 1322 women; moderate-certainty evidence). However, PCC may have little or no effect in reducing the cesarean section rate (RR 1.02; 95% CI: 0.96-1.07; 14 studies; 3641 women; low-certainty evidence); miscarriage rate (RR 0.86; 95% CI: 0.70-1.06; 11 studies; 2698 women; low-certainty evidence); macrosomia rate (RR 1.06; 95% CI: 0.97-1.15; nine studies; 2787 women, low-certainty evidence); neonatal hypoglycemia (RR 0.93; 95% CI: 0.74-1.18; five studies; 880 women; low-certainty evidence); respiratory distress syndrome (RR 0.78; 95% CI: 0.47-1.29; four studies; 466 women; very low-certainty evidence); or shoulder dystocia (RR 0.28; 95% CI: 0.07-1.12; 2 studies; 530 women; very low-certainty evidence).
CONCLUSION
PCC for women with pre-gestational type 1 or type 2 diabetes mellitus is effective in improving rates of congenital malformations. In addition, it may improve the risk of preterm delivery and admission to NICU. PCC probably reduces maternal HbA1C in the first trimester of pregnancy, perinatal mortality and SGA. There is uncertainty regarding the effects of PCC on early booking for antenatal care or maternal hypoglycemia during the first trimester of pregnancy. PCC has little or no effect on other maternal and perinatal outcomes.
Topics: Female; Health Promotion; Humans; Infant, Newborn; Preconception Care; Pregnancy; Pregnancy Outcome; Pregnancy in Diabetics; Prognosis; Program Evaluation; Treatment Outcome
PubMed: 32810195
DOI: 10.1371/journal.pone.0237571 -
BMJ Open May 2024Inconsistent findings on the associations of preconception care with the utilisation of family planning and previous adverse birth outcomes have not been systematically... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Inconsistent findings on the associations of preconception care with the utilisation of family planning and previous adverse birth outcomes have not been systematically reviewed in Ethiopia. Thus, this review aims to estimate the pooled association of preconception care with the utilisation of family planning and previous adverse birth outcomes in Ethiopia.
DESIGN
Systematic review and meta-analysis of observational studies.
DATA SOURCES
MEDLINE Complete, CINAHL Complete, Scopus and Global Health were searched from inception to 28 July 2023.
ELIGIBILITY CRITERIA
Observational studies that reported preconception care as an outcome variable and the use of family planning before pregnancy or previous adverse birth outcomes as exposure variables were included.
DATA EXTRACTION AND SYNTHESIS
Two reviewers independently conducted study screening, data extraction and quality assessment. A fixed-effects model was used to determine the pooled association of preconception care with the utilisation of family planning and previous adverse birth outcomes.
RESULTS
Eight studies involving a total of 3829 participants were included in the review. The pooled meta-analysis found that women with a history of family planning use had a higher likelihood of using preconception care (OR 2.09, 95% CI 1.74 to 2.52) than those women who did not use family planning before their current pregnancy. Likewise, the pooled meta-analysis found that women with prior adverse birth outcomes had a higher chance of using preconception care (OR 3.38, 95% CI 1.06 to 10.74) than women with no history of prior adverse birth outcomes.
CONCLUSION
This review indicated that utilisation of preconception care had a positive association with previous use of family planning and prior adverse birth outcomes. Thus, policymakers and other relevant stakeholders should strengthen the integration of preconception care with family planning and other maternal healthcare services.
PROSPERO REGISTRATION NUMBER
CRD42023443855.
Topics: Humans; Preconception Care; Ethiopia; Pregnancy; Family Planning Services; Female; Pregnancy Outcome
PubMed: 38719286
DOI: 10.1136/bmjopen-2023-078299 -
BMC Pregnancy and Childbirth Mar 2022Preparing for pregnancy and being in the best possible health before conception improves reproductive outcomes. For women living with a chronic non-communicable disease...
BACKGROUND
Preparing for pregnancy and being in the best possible health before conception improves reproductive outcomes. For women living with a chronic non-communicable disease (NCD), pregnancy planning is essential to allow optimal disease control in preparation for pregnancy.
AIM
The aim was to review the literature relating to the pregnancy planning health information and service needs of women with NCDs.
METHOD
The MEDLINE (Ovid), Embase (Ovid), Emcare (Ovid), PsycINFO (Ovid), CINAHL and Scopus databases were searched. Studies were included if they were published in peer-reviewed English language journals between January 2010 and June 2020 and reported on the pregnancy planning health information and service needs of women with rheumatic diseases, asthma, cystic fibrosis, depression and/or anxiety, type 1 diabetes mellitus, epilepsy, or multiple sclerosis. Risk of bias was assessed using QualSyst. The characteristics of the studies were tabulated and summarised. Key findings of the included studies were analysed thematically using an inductive approach, where the study findings determined the themes. Findings are reported in a narrative synthesis.
RESULTS
The database searches yielded 8291 results, of which 4304 remained after duplicates were removed. After abstract screening 104 full-text papers were reviewed. Of these 15 met inclusion criteria and were included in analysis. The narrative synthesis of the included studies revealed six themes: 'Women with chronic conditions have unmet preconception health information needs', 'Women with chronic conditions want personalised preconception health information', 'Preferred sources of preconception health information', 'Learning from the experiences of other women', 'Improving preconception health discussions with health care professionals', and 'Women want holistic care'. These themes were consistent across all studies, highlighting the similarity of experiences and needs of women with different chronic conditions.
CONCLUSION
To improve pregnancy outcomes for women living with NCDs, health care providers need to ask women of reproductive age proactively and routinely about their pregnancy intentions and provide them with personalised advice on how to avoid unplanned pregnancy and be in optimal health when they wish to conceive. PROSPERO registration number CRD42020176308.
Topics: Chronic Disease; Consumer Health Information; Female; Health Services Needs and Demand; Humans; Preconception Care; Pregnancy; Pregnancy Complications; Pregnancy Outcome
PubMed: 35317730
DOI: 10.1186/s12884-022-04498-1 -
Nutrients Feb 2020Pregnancy in adolescence and malnutrition are common challenges in low- and middle-income countries (LMICs), and are associated with many complications and...
Pregnancy in adolescence and malnutrition are common challenges in low- and middle-income countries (LMICs), and are associated with many complications and comorbidities. The preconception period is an ideal period for intervention as a preventative tactic for teenage pregnancy, and to increase micronutrient supplementation prior to conception. Over twenty databases and websites were searched and 45 randomized controlled trials (RCTs) or quasi-experimental interventions with intent to delay the age at first pregnancy ( = 26), to optimize inter-pregnancy intervals ( = 4), and supplementation of folic acid ( = 5) or a combination of iron and folic acid ( = 10) during the periconception period were included. The review found that educational interventions to delay the age at first pregnancy and optimizing inter-pregnancy intervals significantly improved the uptake of contraception use (RR = 1.71, 95% CI = 1.42-2.05; two studies, = 911; I = 0%) and (RR = 2.25, 95% CI = 1.29-3.93; one study, = 338), respectively. For periconceptional folic acid supplementation, the incidence of neural tube defects were reduced (RR = 0.53; 95% CI = 0.41-0.77; two studies, = 248,056; I = 0%), and iron-folic acid supplementation improved the rates of anemia (RR = 0.66, 95% CI = 0.53-0.81; six studies; = 3430, I = 88%), particularly when supplemented weekly and in a school setting. Notwithstanding the findings, more robust RCTs are required from LMICs to further support the evidence.
Topics: Developing Countries; Dietary Supplements; Female; Folic Acid; Humans; Male; Maternal Nutritional Physiological Phenomena; Nutritional Status; Preconception Care; Pregnancy; Pregnancy Outcome; Publication Bias; Risk
PubMed: 32110886
DOI: 10.3390/nu12030606 -
African Journal of Primary Health Care... Nov 2023No abstract available.
No abstract available.
PubMed: 38044892
DOI: 10.4102/phcfm.v15i1.3708