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BMJ (Clinical Research Ed.) Sep 2016To determine the risks of stillbirth and neonatal complications by gestational age in uncomplicated monochorionic and dichorionic twin pregnancies. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To determine the risks of stillbirth and neonatal complications by gestational age in uncomplicated monochorionic and dichorionic twin pregnancies.
DESIGN
Systematic review and meta-analysis.
DATA SOURCES
Medline, Embase, and Cochrane databases (until December 2015).
REVIEW METHODS
Databases were searched without language restrictions for studies of women with uncomplicated twin pregnancies that reported rates of stillbirth and neonatal outcomes at various gestational ages. Pregnancies with unclear chorionicity, monoamnionicity, and twin to twin transfusion syndrome were excluded. Meta-analyses of observational studies and cohorts nested within randomised studies were undertaken. Prospective risk of stillbirth was computed for each study at a given week of gestation and compared with the risk of neonatal death among deliveries in the same week. Gestational age specific differences in risk were estimated for stillbirths and neonatal deaths in monochorionic and dichorionic twin pregnancies after 34 weeks' gestation.
RESULTS
32 studies (29 685 dichorionic, 5486 monochorionic pregnancies) were included. In dichorionic twin pregnancies beyond 34 weeks (15 studies, 17 830 pregnancies), the prospective weekly risk of stillbirths from expectant management and the risk of neonatal death from delivery were balanced at 37 weeks' gestation (risk difference 1.2/1000, 95% confidence interval -1.3 to 3.6; I(2)=0%). Delay in delivery by a week (to 38 weeks) led to an additional 8.8 perinatal deaths per 1000 pregnancies (95% confidence interval 3.6 to 14.0/1000; I(2)=0%) compared with the previous week. In monochorionic pregnancies beyond 34 weeks (13 studies, 2149 pregnancies), there was a trend towards an increase in stillbirths compared with neonatal deaths after 36 weeks, with an additional 2.5 per 1000 perinatal deaths, which was not significant (-12.4 to 17.4/1000; I(2)=0%). The rates of neonatal morbidity showed a consistent reduction with increasing gestational age in monochorionic and dichorionic pregnancies, and admission to the neonatal intensive care unit was the commonest neonatal complication. The actual risk of stillbirth near term might be higher than reported estimates because of the policy of planned delivery in twin pregnancies.
CONCLUSIONS
To minimise perinatal deaths, in uncomplicated dichorionic twin pregnancies delivery should be considered at 37 weeks' gestation; in monochorionic pregnancies delivery should be considered at 36 weeks.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42014007538.
Topics: Female; Gestational Age; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intensive Care, Neonatal; Perinatal Death; Pregnancy; Pregnancy, Twin; Prospective Studies; Risk Factors; Stillbirth; Twins, Dizygotic; Twins, Monozygotic
PubMed: 27599496
DOI: 10.1136/bmj.i4353 -
Journal of Child Psychology and... May 2016The etiology of Autism Spectrum Disorder (ASD) has been recently debated due to emerging findings on the importance of shared environmental influences. However, two... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The etiology of Autism Spectrum Disorder (ASD) has been recently debated due to emerging findings on the importance of shared environmental influences. However, two recent twin studies do not support this and instead re-affirm strong genetic effects on the liability to ASD, a finding consistent with previous reports. This study conducts a systematic review and meta-analysis of all twin studies of ASD published to date and explores the etiology along the continuum of a quantitative measure of ASD.
METHODS
A PubMed Central, Science Direct, Google Scholar, Web of Knowledge structured search conducted online, to identify all twin studies on ASD published to date. Thirteen primary twin studies were identified, seven were included in the meta-analysis by meeting Systematic Recruitment criterion; correction for selection and ascertainment strategies, and applied prevalences were assessed for these studies. In addition, a quantile DF extremes analysis was carried out on Childhood Autism Spectrum Test scores measured in a population sample of 6,413 twin pairs including affected twins.
RESULTS
The meta-analysis correlations for monozygotic twins (MZ) were almost perfect at .98 (95% Confidence Interval, .96-.99). The dizygotic (DZ) correlation, however, was .53 (95% CI .44-.60) when ASD prevalence rate was set at 5% (in line with the Broad Phenotype of ASD) and increased to .67 (95% CI .61-.72) when applying a prevalence rate of 1%. The meta-analytic heritability estimates were substantial: 64-91%. Shared environmental effects became significant as the prevalence rate decreased from 5-1%: 07-35%. The DF analyses show that for the most part, there is no departure from linearity in heritability.
CONCLUSIONS
We demonstrate that: (a) ASD is due to strong genetic effects; (b) shared environmental effects become significant as a function of lower prevalence rate; (c) previously reported significant shared environmental influences are likely a statistical artefact of overinclusion of concordant DZ twins.
Topics: Autism Spectrum Disorder; Diseases in Twins; Genetic Predisposition to Disease; Humans
PubMed: 26709141
DOI: 10.1111/jcpp.12499 -
BMC Psychology Jan 2022In the general population, 10.6% of people favor their left hand over the right for motor tasks. Previous research suggests higher prevalence of atypical (left-, mixed-,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
In the general population, 10.6% of people favor their left hand over the right for motor tasks. Previous research suggests higher prevalence of atypical (left-, mixed-, or non-right-) handedness in (i) twins compared to singletons, and in (ii) monozygotic compared to dizygotic twins. Moreover, (iii) studies have shown a higher rate of handedness concordance in monozygotic compared to dizygotic twins, in line with genetic factors playing a role for handedness.
METHODS
By means of a systematic review, we identified 59 studies from previous literature and performed three sets of random effects meta-analyses on (i) twin-to-singleton Odds Ratios (21 studies, n = 189,422 individuals) and (ii) monozygotic-to-dizygotic twin Odds Ratios (48 studies, n = 63,295 individuals), both times for prevalence of left-, mixed-, and non-right-handedness. For monozygotic and dizygotic twin pairs we compared (iii) handedness concordance Odds Ratios (44 studies, n = 36,217 twin pairs). We also tested for potential effects of moderating variables, such as sex, age, the method used to assess handedness, and the twins' zygosity.
RESULTS
We found (i) evidence for higher prevalence of left- (Odds Ratio = 1.40, 95% Confidence Interval = [1.26, 1.57]) and non-right- (Odds Ratio = 1.36, 95% Confidence Interval = [1.22, 1.52]), but not mixed-handedness (Odds Ratio = 1.08, 95% Confidence Interval = [0.52, 2.27]) among twins compared to singletons. We further showed a decrease in Odds Ratios in more recent studies (post-1975: Odds Ratio = 1.30, 95% Confidence Interval = [1.17, 1.45]) compared to earlier studies (pre-1975: Odds Ratio = 1.90, 95% Confidence Interval = [1.59-2.27]). While there was (ii) no difference between monozygotic and dizygotic twins regarding prevalence of left- (Odds Ratio = 0.98, 95% Confidence Interval = [0.89, 1.07]), mixed- (Odds Ratio = 0.96, 95% Confidence Interval = [0.46, 1.99]), or non-right-handedness (Odds Ratio = 1.01, 95% Confidence Interval = [0.91, 1.12]), we found that (iii) handedness concordance was elevated among monozygotic compared to dizygotic twin pairs (Odds Ratio = 1.11, 95% Confidence Interval = [1.06, 1.18]). By means of moderator analyses, we did not find evidence for effects of potentially confounding variables.
CONCLUSION
We provide the largest and most comprehensive meta-analysis on handedness in twins. Although a raw, unadjusted analysis found a higher prevalence of left- and non-right-, but not mixed-handedness among twins compared to singletons, left-handedness was substantially more prevalent in earlier than in more recent studies. The single large, recent study which included birth weight, Apgar score and gestational age as covariates found no twin-singleton difference in handedness rate, but these covariates could not be included in the present meta-analysis. Together, the secular shift and the influence of covariates probably make it unsafe to conclude that twinning has a genuine relationship to handedness.
Topics: Birth Weight; Functional Laterality; Humans; Prevalence; Twins, Dizygotic; Twins, Monozygotic
PubMed: 35033205
DOI: 10.1186/s40359-021-00695-3 -
EFORT Open Reviews May 2022Idiopathic scoliosis is the most common spinal deformity and affects 1-3% of children and adolescents. Idiopathic scoliosis may run in families and the purpose of this... (Review)
Review
PURPOSE
Idiopathic scoliosis is the most common spinal deformity and affects 1-3% of children and adolescents. Idiopathic scoliosis may run in families and the purpose of this systematic review was to describe the degree of heritability.
METHODS
We searched Medline, Web of Science and EMBASE for family and twin studies reporting heritability estimates for idiopathic scoliosis, or studies from which heritability estimates could be calculated. Reference lists were screened for additional papers. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The protocol was registered at PROSPERO (registration number: CRD42022307329).
RESULTS
The literature search identified 1134 reports. After full-text screening, nine eligible reports were included for data extraction. Seven were twin studies containing between 5 and 526 pairs, and two were family studies with 1149 and 2732 individuals, respectively. Quality was 'good' in four studies and 'fair' in five studies. In general, studies with radiograph-confirmed diagnosis reported higher heritability estimates than studies with self-reported diagnosis. Population-based twin studies reported lower heritability estimates than clinic-based twin studies. Family-based studies reported higher heritability estimates than twin studies. Pairwise concordance for scoliosis ranged from 0.11 to 1.00 in monozygotic twins and from 0 to 1.0 in dizygotic twins. A meta-analysis of three studies resulted in a narrow sense heritability estimate of 0.57 (95% CI: 0.29-0.86).
CONCLUSION
Twin and family studies indicate a hereditary component in idiopathic scoliosis, but study heterogeneity is large, and the degree of the heritability is uncertain. Nevertheless, known genetic variants associated with idiopathic scoliosis can still only explain a minor part of heritability.
PubMed: 35638601
DOI: 10.1530/EOR-22-0026 -
Ultrasound in Obstetrics & Gynecology :... Aug 2014The aim of this systematic review was to explore the relationship between crown-rump length (CRL) discordance detected at 11-14 weeks of gestation and adverse outcome in... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
The aim of this systematic review was to explore the relationship between crown-rump length (CRL) discordance detected at 11-14 weeks of gestation and adverse outcome in twin pregnancy and to assess its predictive accuracy.
METHODS
A protocol designed a priori following MOOSE guidelines and recommended for systematic review and meta-analysis was used. The outcomes observed were: total fetal and perinatal loss, fetal loss at <24 weeks, fetal loss at ≥ 24 weeks, birth-weight (BW) discordance, preterm delivery (PTD) at < 34 weeks and fetal anomalies. The analysis was performed for all twins and for dichorionic (DC) and monochorionic (MC) twins separately.
RESULTS
A total of 2008 articles were identified and 17 studies were included in the systematic review. Twin pregnancies with CRL discordance ≥ 10% were at significantly higher risk of perinatal loss (RR, 2.80; 95% CI, 1.25-6.27; P = 0.012), fetal loss at ≥ 24 weeks (RR, 4.07; 95% CI, 1.47-11.23; P = 0.006), BW discordance (RR, 2.24; 95% CI, 1.89-2.64; P < 0.001) and PTD at < 34 weeks (RR, 1.49; 95% CI, 1.23-1.80; P < 0.001) but not of fetal loss at < 24 weeks (P = 0.130). A meta-analysis of fetal anomalies was not possible because fewer than two studies explored this outcome. However, when used alone to screen for adverse pregnancy outcome, the predictive accuracy of CRL discordance was low for each of the outcomes explored.
CONCLUSION
CRL discordance is associated with an increased risk of adverse pregnancy outcome. However, the accuracy of CRL discordance in predicting adverse outcome is poor and thus limits its routine use in clinical practice.
Topics: Birth Weight; Crown-Rump Length; Female; Fetus; Humans; Infant, Newborn; Pregnancy; Pregnancy Outcome; Pregnancy, Twin; Twins, Dizygotic; Twins, Monozygotic; Ultrasonography, Prenatal
PubMed: 24585501
DOI: 10.1002/uog.13335 -
Translational Psychiatry Jun 2023The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the... (Meta-Analysis)
Meta-Analysis
The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the relevance of all the studies published since 2001, the current study aimed to update the state-of-art knowledge on the field. All published data concerning the genetic epidemiology of OCD from the CENTRAL, MEDLINE, EMBASE, BVS, and OpenGrey databases were searched by two independent researchers until September 30, 2021. To be included, the articles had to fulfill the following criteria: OCD diagnosis provided by standardized and validated instruments; or medical records; inclusion of a control group for comparison and case-control, cohort or twin study designs. The analysis units were the first-degree relatives (FDRs) of OCD or control probands and the co-twins in twin pairs. The outcomes of interest were the familial recurrence rates of OCD and the correlations of OCS in monozygotic compared with dizygotic twins. Nineteen family, twenty-nine twin, and six population-based studies were included. The main findings were that OCD is a prevalent and highly familial disorder, especially among the relatives of children and adolescent probands, that OCD has a phenotypic heritability of around 50%; and that the higher OCS correlations between MZ twins were mainly due to additive genetic or to non-shared environmental components.
Topics: Adolescent; Child; Humans; Molecular Epidemiology; Twins, Dizygotic; Databases, Factual; Research Design
PubMed: 37380645
DOI: 10.1038/s41398-023-02433-2 -
Sports Medicine - Open Dec 2017There is evidence for considerable heterogeneity in the responsiveness to regular physical activity (PA) which might reflect the influence of genetic factors. The aim of... (Review)
Review
BACKGROUND
There is evidence for considerable heterogeneity in the responsiveness to regular physical activity (PA) which might reflect the influence of genetic factors. The aim of this systematic review was to assess whether the response to a PA intervention for measures of body composition and cardiorespiratory fitness is (i) correlated within twin pairs and/or families and (ii) more correlated in monozygotic twins (MZ) compared to dizygotic twins (DZ), which would be consistent with genetic effects.
METHODS
We performed electronic database searches, combining key words relating to "physical activity" and "genetics", in MEDLINE, CINAHL, EMBASE, SPORTS Discuss, AMED, PsycINFO, WEB OF SCIENCE, and SCOPUS from the earliest records to March 2016. Twin and family studies were included if they assessed body composition and/or cardiorespiratory fitness following a PA intervention, and provided a heritability estimate, maximal heritability estimate, or within MZ twin pair correlation (r). Data on heritability (twin studies), maximal heritability (family studies), and the r were extracted from included studies, although heritability estimates were not reported as small sample sizes made them uninformative.
RESULTS
After screening 224 full texts, nine twin and five family studies were included in this review. The pooled r in response to PA was significant for body mass index (r = 0.69, n = 58), fat mass (r = 0.58, n = 48), body fat percentage (r = 0.55, n = 72), waist circumference (r = 0.50, n = 27), and VOmax (r = 0.39, n = 48), where "n" represents the total number of twin pairs from all studies. Maximal heritability estimates ranged from 0-21% for measures of body composition, and 22-57% for cardiorespiratory fitness. Twin studies differed in sample age, baseline values, and PA intervention, although the exclusion of any one study did not affect the results.
CONCLUSIONS
Shared familial factors, including genetics, are likely to be a significant contributor to the response of body composition and cardiorespiratory fitness following PA. Genetic factors may explain individual variation in the response to PA.
TRIAL REGISTRATIONS
PROSPERO Registration No CRD42015020056 .
PubMed: 28074345
DOI: 10.1186/s40798-016-0073-9 -
Clinical Dysmorphology Oct 2012The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia,... (Review)
Review
The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.
Topics: Anus, Imperforate; Diseases in Twins; Esophagus; Heart Defects, Congenital; Humans; Radius; Spine; Trachea; Twins, Dizygotic; Twins, Monozygotic
PubMed: 22895008
DOI: 10.1097/MCD.0b013e328358243c -
JAMA Network Open Aug 2022Although infancy is the most rapid period of postnatal growth and development, factors associated with variation in infant traits are not well understood. (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Although infancy is the most rapid period of postnatal growth and development, factors associated with variation in infant traits are not well understood.
OBJECTIVE
To synthesize the large twin study literature partitioning phenotypic variance in psychological traits and developmental milestones in infancy into estimates of heritability and shared and nonshared environment.
DATA SOURCES
PubMed, PsycINFO, and references of included publications were searched up to February 11, 2021.
STUDY SELECTION
Peer-reviewed publications using the classical twin design to study psychological traits and developmental milestones from birth to 2 years old were included.
DATA EXTRACTION AND SYNTHESIS
Data were extracted in line with Preferred Reporting Items for Systematic Reviews and Meta-Analyses and categorized using the International Classification of Functioning, Disability and Health: Children and Youth Version. Data were pooled in 3-level random effects models, incorporating within-cohort variance in outcome measurement and between-cohort variance. Data were analyzed from March 2021 through September 2021.
MAIN OUTCOMES AND MEASURES
The primary outcomes were monozygotic and dizygotic twin correlations. These were used to calculate genetic and shared and nonshared environment estimates.
RESULTS
Among 139 publications that were systematically retrieved, data were available on 79 044 twin pairs (31 053 monozygotic and 47 991 dizygotic pairs), 52 independent samples, and 21 countries. Meta-analyses were conducted on psychological traits and developmental milestones from 106 publications organized into 10 categories of functioning, disability, and health. Moderate to high genetic estimates for 8 categories were found, the highest of which was psychomotor functions (pooled h2, 0.59; 95% CI, 0.25-0.79; P < .001). Several categories of traits had substantial shared environment estimates, the highest being mental functions of language (pooled c2, 0.59; 95% CI, 0.24-0.86; P = .001). All examined categories of traits had moderate or high nonshared environment estimates, the highest of which were emotional functions (pooled e2, 0.42; 95% CI, 0.33-0.50; P < .001) and family relationships (pooled e2, 0.42; 95% CI, 0.30-0.55; P < .001).
CONCLUSIONS AND RELEVANCE
These findings may be an important source of information to guide future gene discovery research, public perspectives on nature and nurture, and clinical insights into the degree to which family history and environments may estimate major domains of infant functioning, disability, and health in psychological traits and developmental milestones.
Topics: Adolescent; Child; Cohort Studies; Forecasting; Humans; Infant; Phenotype; Twins, Dizygotic
PubMed: 35994288
DOI: 10.1001/jamanetworkopen.2022.27887 -
PloS One 2011Acute rheumatic fever is considered to be a heritable condition, but the magnitude of the genetic effect is unknown. The objective of this study was to conduct a... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Acute rheumatic fever is considered to be a heritable condition, but the magnitude of the genetic effect is unknown. The objective of this study was to conduct a systematic review and meta-analysis of twin studies of concordance of acute rheumatic fever in order to derive quantitative estimates of the size of the genetic effect.
METHODS
We searched PubMed/MEDLINE, ISI Web of Science, EMBASE, and Google Scholar from their inception to 31 January 2011, and bibliographies of retrieved articles, for twin studies of the concordance for acute rheumatic fever or rheumatic heart disease in monozygotic versus dizygotic twins that used accepted diagnostic criteria for acute rheumatic fever and zygosity without age, gender or language restrictions. Twin similarity was measured by probandwise concordance rate and odds ratio (OR), and aggregate probandwise concordance risk was calculated by combining raw data from each study. ORs from separate studies were combined by random-effects meta-analysis to evaluate association between zygosity status and concordance. Heritability was estimated by fitting a variance components model to the data.
RESULTS
435 twin pairs from six independent studies met the inclusion criteria. The pooled probandwise concordance risk for acute rheumatic fever was 44% in monozygotic twins and 12% in dizygotic twins, and the association between zygosity and concordance was strong (OR 6.39; 95% confidence interval, 3.39 to 12.06; P<0.001), with no significant study heterogeneity (P = 0.768). The estimated heritability across all the studies was 60%.
CONCLUSIONS
Acute rheumatic fever is an autoimmune disorder with a high heritability. The discovery of all genetic susceptibility loci through whole genome scanning may provide a clinically useful genetic risk prediction tool for acute rheumatic fever and its sequel, rheumatic heart disease.
Topics: Genetic Predisposition to Disease; Humans; Rheumatic Fever; Twin Studies as Topic; Twins, Dizygotic; Twins, Monozygotic
PubMed: 21980428
DOI: 10.1371/journal.pone.0025326