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The Lancet. Haematology Sep 2023Anaemia is a major health problem worldwide. Global estimates of anaemia burden are crucial for developing appropriate interventions to meet current international...
BACKGROUND
Anaemia is a major health problem worldwide. Global estimates of anaemia burden are crucial for developing appropriate interventions to meet current international targets for disease mitigation. We describe the prevalence, years lived with disability, and trends of anaemia and its underlying causes in 204 countries and territories.
METHODS
We estimated population-level distributions of haemoglobin concentration by age and sex for each location from 1990 to 2021. We then calculated anaemia burden by severity and associated years lived with disability (YLDs). With data on prevalence of the causes of anaemia and associated cause-specific shifts in haemoglobin concentrations, we modelled the proportion of anaemia attributed to 37 underlying causes for all locations, years, and demographics in the Global Burden of Disease Study 2021.
FINDINGS
In 2021, the global prevalence of anaemia across all ages was 24·3% (95% uncertainty interval [UI] 23·9-24·7), corresponding to 1·92 billion (1·89-1·95) prevalent cases, compared with a prevalence of 28·2% (27·8-28·5) and 1·50 billion (1·48-1·52) prevalent cases in 1990. Large variations were observed in anaemia burden by age, sex, and geography, with children younger than 5 years, women, and countries in sub-Saharan Africa and south Asia being particularly affected. Anaemia caused 52·0 million (35·1-75·1) YLDs in 2021, and the YLD rate due to anaemia declined with increasing Socio-demographic Index. The most common causes of anaemia YLDs in 2021 were dietary iron deficiency (cause-specific anaemia YLD rate per 100 000 population: 422·4 [95% UI 286·1-612·9]), haemoglobinopathies and haemolytic anaemias (89·0 [58·2-123·7]), and other neglected tropical diseases (36·3 [24·4-52·8]), collectively accounting for 84·7% (84·1-85·2) of anaemia YLDs.
INTERPRETATION
Anaemia remains a substantial global health challenge, with persistent disparities according to age, sex, and geography. Estimates of cause-specific anaemia burden can be used to design locally relevant health interventions aimed at improving anaemia management and prevention.
FUNDING
Bill & Melinda Gates Foundation.
Topics: Child; Humans; Female; Child, Preschool; Prevalence; Global Burden of Disease; Disability-Adjusted Life Years; Global Health; Anemia; Hemoglobins
PubMed: 37536353
DOI: 10.1016/S2352-3026(23)00160-6 -
JAMA Network Open Sep 2023Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic...
IMPORTANCE
Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population.
OBJECTIVE
To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test.
DESIGN, SETTING, AND PARTICIPANTS
This cohort study included newborns who were prospectively recruited from 8 screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022.
EXPOSURES
All participants were concurrently screened using dried blood spots. The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel.
MAIN OUTCOMES AND MEASURES
The primary outcomes were the number of patients detected by gene panel sequencing but undetected by the biochemical test.
RESULTS
This study prospectively recruited 29 601 newborns (15 357 [51.2%] male). The mean (SD) gestational age was 39.0 (1.5) weeks, and the mean (SD) birth weight was 3273 (457) g. The gene panel sequencing screened 813 infants (2.7%; 95% CI, 2.6%-2.9%) as positive. By the date of follow-up, 402 infants (1.4%; 95% CI, 1.2%-1.5%) had been diagnosed, indicating the positive predictive value was 50.4% (95% CI, 50.0%-53.9%). The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into 1 out of every 500 newborns (95% CI, 1/385-1/625) benefiting from the implementation of gene panels as a first-tier screening test.
CONCLUSIONS AND RELEVANCE
In this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional screening, providing an evidence-based suggestion that it could be considered as a crucial method for first-tier screening.
Topics: Infant, Newborn; Infant; Humans; Male; Female; Cohort Studies; Neonatal Screening; Birth Weight; China; Genomics
PubMed: 37656460
DOI: 10.1001/jamanetworkopen.2023.31162 -
Clinical Epigenetics Aug 2023Experimental studies suggest that exposures may impact respiratory health across generations via epigenetic changes transmitted specifically through male germ cells....
BACKGROUND
Experimental studies suggest that exposures may impact respiratory health across generations via epigenetic changes transmitted specifically through male germ cells. Studies in humans are, however, limited. We aim to identify epigenetic marks in offspring associated with father's preconception smoking.
METHODS
We conducted epigenome-wide association studies (EWAS) in the RHINESSA cohort (7-50 years) on father's any preconception smoking (n = 875 offspring) and father's pubertal onset smoking < 15 years (n = 304), using Infinium MethylationEPIC Beadchip arrays, adjusting for offspring age, own smoking and maternal smoking. EWAS of maternal and offspring personal smoking were performed for comparison. Father's smoking-associated dmCpGs were checked in subpopulations of offspring who reported no personal smoking and no maternal smoking exposure.
RESULTS
Father's smoking commencing preconception was associated with methylation of blood DNA in offspring at two cytosine-phosphate-guanine sites (CpGs) (false discovery rate (FDR) < 0.05) in PRR5 and CENPP. Father's pubertal onset smoking was associated with 19 CpGs (FDR < 0.05) mapped to 14 genes (TLR9, DNTT, FAM53B, NCAPG2, PSTPIP2, MBIP, C2orf39, NTRK2, DNAJC14, CDO1, PRAP1, TPCN1, IRS1 and CSF1R). These differentially methylated sites were hypermethylated and associated with promoter regions capable of gene silencing. Some of these sites were associated with offspring outcomes in this cohort including ever-asthma (NTRK2), ever-wheezing (DNAJC14, TPCN1), weight (FAM53B, NTRK2) and BMI (FAM53B, NTRK2) (p < 0.05). Pathway analysis showed enrichment for gene ontology pathways including regulation of gene expression, inflammation and innate immune responses. Father's smoking-associated sites did not overlap with dmCpGs identified in EWAS of personal and maternal smoking (FDR < 0.05), and all sites remained significant (p < 0.05) in analyses of offspring with no personal smoking and no maternal smoking exposure.
CONCLUSION
Father's preconception smoking, particularly in puberty, is associated with offspring DNA methylation, providing evidence that epigenetic mechanisms may underlie epidemiological observations that pubertal paternal smoking increases risk of offspring asthma, low lung function and obesity.
Topics: Male; Humans; DNA Methylation; Smoking; Tobacco Smoking; Epigenesis, Genetic; Asthma; Cytosine; Guanine; Chromosomal Proteins, Non-Histone
PubMed: 37649101
DOI: 10.1186/s13148-023-01540-7 -
Frontiers in Endocrinology 2023The prevalence of type 2 diabetes (T2DM) at reproductive age is rising. Women with T2DM have a similarly high risk for pregnancy complications as pregnant women with... (Review)
Review
The prevalence of type 2 diabetes (T2DM) at reproductive age is rising. Women with T2DM have a similarly high risk for pregnancy complications as pregnant women with type 1 diabetes. To reduce adverse pregnancy and neonatal outcomes, such as preeclampsia and preterm delivery, a multi-target approach is necessary. Tight glycemic control together with appropriate gestational weight gain, lifestyle measures, and if necessary, antihypertensive treatment and low-dose aspirin is advised. This narrative review discusses the latest evidence on preconception care, management of diabetes-related complications, lifestyle counselling, recommendations on gestational weight gain, pharmacologic treatment and early postpartum management of T2DM.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Diabetes Mellitus, Type 2; Gestational Weight Gain; Pregnancy Complications; Reproduction; Diabetes Mellitus, Type 1
PubMed: 37547311
DOI: 10.3389/fendo.2023.1193271 -
BMC Public Health Jun 2024Preconception health has the potential to improve parental, pregnancy and infant outcomes. This scoping review aims to (1) provide an overview of the strategies,... (Review)
Review
BACKGROUND
Preconception health has the potential to improve parental, pregnancy and infant outcomes. This scoping review aims to (1) provide an overview of the strategies, policies, guidelines, frameworks, and recommendations available in the UK and Ireland that address preconception health and care, identifying common approaches and health-influencing factors that are targeted; and (2) conduct an audit to explore the awareness and use of resources found in the scoping review amongst healthcare professionals, to validate and contextualise findings relevant to Northern Ireland.
METHODS
Grey literature resources were identified through Google Advanced Search, NICE, OpenAire, ProQuest and relevant public health and government websites. Resources were included if published, reviewed, or updated between January 2011 and May 2022. Data were extracted into Excel and coded using NVivo. The review design included the involvement of the "Healthy Reproductive Years" Patient and Public Involvement and Engagement advisory panel.
RESULTS
The searches identified 273 resources, and a subsequent audit with healthcare professionals in Northern Ireland revealed five additional preconception health-related resources. A wide range of resource types were identified, and preconception health was often not the only focus of the resources reviewed. Resources proposed approaches to improve preconception health and care, such as the need for improved awareness and access to care, preconceptual counselling, multidisciplinary collaborations, and the adoption of a life-course approach. Many behavioural (e.g., folic acid intake, smoking), biomedical (e.g., mental and physical health conditions), and environmental and social (e.g., deprivation) factors were identified and addressed in the resources reviewed. In particular, pre-existing physical health conditions were frequently mentioned, with fewer resources addressing psychological factors and mental health. Overall, there was a greater focus on women's, rather than men's, behaviours.
CONCLUSIONS
This scoping review synthesised existing resources available in the UK and Ireland to identify a wide range of common approaches and factors that influence preconception health and care. Efforts are needed to implement the identified resources (e.g., strategies, guidelines) to support people of childbearing age to access preconception care and optimise their preconception health.
Topics: Humans; Preconception Care; Ireland; Female; United Kingdom; Health Policy; Practice Guidelines as Topic; Pregnancy
PubMed: 38909211
DOI: 10.1186/s12889-024-19188-0 -
Heliyon Oct 2023The status of care in the preconception and pregnancy periods in women who use substances can have an impact on maternal and neonatal health. This study aimed to assess...
BACKGROUND
The status of care in the preconception and pregnancy periods in women who use substances can have an impact on maternal and neonatal health. This study aimed to assess the provision of preconception care, prenatal care, and postnatal mother-to-child bonding among pregnant women who use substances.
METHODS
An ambidirectional cohort study was conducted, involving 69 pregnant women who reported substance use and had it confirmed using a ten-parameter panel kit (M10T) manufactured by Hannan Teb Pars Company. These women were selected from a referral maternity hospital between January and December 2020, using a convenience sampling method. Sociodemographic information, obstetric and medical history, and information about preconception and prenatal care were collected. All maternal and neonatal outcomes were recorded from the time of admission to the time of discharge for both the mothers and their neonates. Neonatal abstinence syndrome and mother-to-child bonding were assessed using modified Finnegan's neonatal abstinence tool and a postpartum bonding questionnaire, respectively. The data were analyzed using descriptive and inferential tests using SPSS software version 22.
RESULT
The mean age of the women was 32.8 ± 5.7 years. The mean duration of substance use was 5.1 ± 3.5 years. 48% of the pregnancies were reported as unwanted. A total of 94.2% and 50.7% of pregnant women did not receive preconception care and prenatal care, respectively. There was no association between pregnancy wantedness and receiving preconception care (P = 0.287), but a significant association was observed for prenatal care (P < 0.001). 31% of the mothers experienced a mother-to-child bonding disorder, with 75% of those who had unwanted pregnancies reporting such a disorder.
CONCLUSION
The findings of this study indicate that the majority of pregnant women who use substances did not receive preconception care, and prenatal care was inadequate with fewer visits than recommended. One-third of the pregnant women who use substances experienced a mother-to-child bonding disorder. It was also observed that women with unwanted pregnancies had poorer perinatal care and mother-to-child bonding.
PubMed: 37822612
DOI: 10.1016/j.heliyon.2023.e20528 -
Annals of Cardiothoracic Surgery Nov 2023Aortic dissection (AD) associated with pregnancy can have catastrophic consequences for the mother and/or fetus. AD occurs in 4-5 per 1,000,000 pregnancies and, despite... (Review)
Review
Aortic dissection (AD) associated with pregnancy can have catastrophic consequences for the mother and/or fetus. AD occurs in 4-5 per 1,000,000 pregnancies and, despite its rarity, is the third most frequent maternal cardiovascular cause of death. AD associated with pregnancy is most likely to occur in the third trimester or postpartum period. In individuals with genetic aortopathy, pregnancy is considered a high-risk time for AD. There are management strategies in the preconception, antepartum, delivery and postpartum periods to optimize patient care. A multi-disciplinary team that includes capability to perform cardiovascular surgery is critical. Imaging modalities including maternal echocardiogram and magnetic resonance imaging can be safely performed in pregnancy for surveillance of the aortic size. Computed tomography (CT) scan is reserved for scenarios where there is a high index of suspicion for AD in a pregnant person to limit fetal exposure to radiation. After counseling about the potential risks of a pregnancy, the decision to pursue pregnancy is ultimately at the discretion of the individual. The duty of the cardio-obstetric team is to ensure that the patient and their family understand the risks of a pregnancy and the plan of care.
PubMed: 38090346
DOI: 10.21037/acs-2023-adw-0164 -
Cureus Jun 2023Preconception care is a strategic intervention to improve neonatal and birth outcomes by addressing modifiable risk factors and optimizing maternal and fetal health... (Review)
Review
Preconception care is a strategic intervention to improve neonatal and birth outcomes by addressing modifiable risk factors and optimizing maternal and fetal health before pregnancy. This review article examines the importance of preconception care and its impact on preventing neonatal and birth disorders. The methodology involved a comprehensive review of peer-reviewed articles, research studies, and authoritative reports. Key components of preconception care, evidence-based interventions, and their effectiveness in reducing specific neonatal and birth disorders are discussed. The review also highlights the challenges and barriers in implementing preconception care, such as lack of awareness, socioeconomic factors, health system limitations, and policy considerations. Strategies for promoting preconception care, including integration into healthcare systems, raising awareness, healthcare professional education, and collaborations are presented. The conclusion emphasizes the significance of preconception care as a strategic intervention and calls for action by healthcare providers, policymakers, and individuals to prioritize preconception care for better neonatal and birth outcomes.
PubMed: 37519532
DOI: 10.7759/cureus.41141