Twin Research and Human Genetics最新文献

Umbilical Venous Flow Volume and Fetal Combined Cardiac Output in Twin Pregnancies. 双胎妊娠脐静脉流量与胎儿联合心输出量。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-05-13 DOI: 10.1017/thg.2025.23

Sommart Bumrungphuet, Katsusuke Ozawa, Wirada Hansahiranwadee, Jin Muromoto, Seiji Wada, Haruhiko Sago

{"title":"Umbilical Venous Flow Volume and Fetal Combined Cardiac Output in Twin Pregnancies.","authors":"Sommart Bumrungphuet, Katsusuke Ozawa, Wirada Hansahiranwadee, Jin Muromoto, Seiji Wada, Haruhiko Sago","doi":"10.1017/thg.2025.23","DOIUrl":"https://doi.org/10.1017/thg.2025.23","url":null,"abstract":"This study aimed to establish normal reference ranges of combined cardiac output (CCO) and umbilical venous flow volume (UVFV) in twin fetuses at 20 to 28 weeks of gestation and to evaluate the differences between monochorionic and dichorionic twins. CCO and UVFV were prospectively measured by ultrasound at two centers. The following exclusion criteria were applied: age <18 years or >45 years, first hospital visit at >16 weeks of gestation, monochorionic monoamniotic twin pregnancy, fetal structural or chromosomal abnormality, fetal growth restriction, twin-twin transfusion syndrome, twin anemia polycythemia sequence, and severe hypertension or renal disease were excluded. The period was divided into three groups: 20-22 weeks of gestation, 23-25 weeks of gestation, and 26-28 weeks of gestation. The CCO and UVFV were measured at least once during each period. CCO and UVFV were collected from 274 and 269 fetuses and were measured 412 and 424 times, respectively. UVFV and CCO levels increased as gestation progressed. The weight-corrected UVFV (UVFV/kg) and CCO (CCO/kg) remained stable. UVFV and CCO did not differ between monochorionic and dichorionic twin fetuses. The mean ± SD of UVFV/kg and CCO/kg were determined as 127.8 ± 31.8 and 439.4 ± 80.1 mL/kg/min, respectively. The UVFV-to-CCO ratio also remained stable from 20 to 28 weeks of gestation, ranging from 27.7% to 31.8%. The values and ranges of UVFV/kg and mean CCO/kg in twins were similar to those in singletons.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Twins' Book Series: Behind Their Popularity and Beyond Their Pages/Twin Research Reviews: Twinning in Low-Income Countries; Oxytocin During Twin Pregnancies; Male-Female Twins and Preeclampsia; Loss of a Twin From the Controversial 1960s New York City Twin Study/Human Interest: Monozygotic Quadruplets Conceived Naturally; Twins of Cleopatra and Mark Antony; Star Basketball Player is a Twin; Twin Stabbed at Track Meet; Another Twin Hostage in Gaza Revealed. 双胞胎丛书：在他们的流行背后和超越他们的页面/双胞胎研究评论：低收入国家的双胞胎；双胎妊娠中的催产素；男女双胞胎与先兆子痫从有争议的20世纪60年代纽约市双胞胎研究/人类兴趣中失去双胞胎：自然受孕的同卵四胞胎；克利奥帕特拉和马克安东尼的双胞胎；明星篮球运动员是双胞胎；田径运动会双刺；加沙又出现双胞胎人质。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-05-13 DOI: 10.1017/thg.2025.24

Nancy L Segal

引用次数: 0

Evidence that Phenotypic g is Both Formative and Reflective From Four Large Genetically-Informative Samples. 来自四个大型遗传信息样本的证据表明表型g既有形成性又有反思性。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-05-05 DOI: 10.1017/thg.2025.17

Michael A Woodley Of Menie, Mateo Peñaherrera-Aguirre, John G R Fuerst

{"title":"Evidence that Phenotypic g is Both Formative and Reflective From Four Large Genetically-Informative Samples.","authors":"Michael A Woodley Of Menie, Mateo Peñaherrera-Aguirre, John G R Fuerst","doi":"10.1017/thg.2025.17","DOIUrl":"https://doi.org/10.1017/thg.2025.17","url":null,"abstract":"Is general intelligence (g) a reflective construct, representing a latent causal entity underlying subtest performance, or a formative construct, better understood as an aggregate variable shaped by and summarizing variation across subtests? Genetically informative data provide a framework for testing whether a construct is reflective or formative by comparing common pathway and independent pathways structural equation models (SEMs). Previous studies using biometric SEMs have predominantly supported the reflective model, with phenotypic g mediating the effects of additive genetic and environmental influences on lower level abilities. In the current study, four large genetically informed datasets (three from the US and one from the UK) were analyzed to test three competing SEM models - common pathway, independent pathways, and merged - using Confirmatory Factor Analysis (CFA). Genetic g was estimated in each sample as a latent variable derived from polygenic scores indexing educational attainment and cognitive abilities. The models were compared as follows: the common pathway model, consistent with a reflective g, included a direct path from genetic g to phenotypic g; the independent pathways model, consistent with a formative g, featured indirect paths from genetic g to phenotypic g via subtests; and the merged model incorporated both direct and indirect paths. Across all four datasets, the merged model consistently provided the best fit (based on goodness-of-fit and parsimony criteria). Phenotypic g mediated between 31% and 81% of the effects of genetic g on subtests. These findings suggest that g functions as both a reflective and formative entity.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-15"},"PeriodicalIF":1.0,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-28 DOI: 10.1017/thg.2025.15

Ngoc-Quynh Le, Puya Gharahkhani, Stuart MacGregor

{"title":"Genetic Similarity Clustering Using the UK Biobank as a Reference Dataset.","authors":"Ngoc-Quynh Le, Puya Gharahkhani, Stuart MacGregor","doi":"10.1017/thg.2025.15","DOIUrl":"https://doi.org/10.1017/thg.2025.15","url":null,"abstract":"Incorporating genetic data from diverse populations is crucial for understanding genetic contributions to diseases and ensuring health equity in healthcare practices. However, existing reference panels either capture a limited number of populations or have small sample sizes. We examine the UK Biobank's performance as a reference for clustering genetically similar individuals. Leveraging data from participants of diverse origins, we aim to improve population representation and mitigate bias caused by the limited number of populations in other reference panels. We combined countries of birth and ethnic backgrounds data fields from the UK Biobank and genetic information to infer genetically similar population labels. A random forest model was then trained on genetic principal components to identify each individual's most genetically similar population. The model's performance was validated using the 1000 Genomes and the CARTaGENE biobank data. We identified more diverse reference populations than present in datasets such as 1000 Genomes, covering 19 populations worldwide. Our model achieved medium to high precision and recall for most labeled populations, although lower rates were observed in closely related groups. For instance, we identified 519 people in CARTaGENE most genetically similar to the Middle Eastern reference sample derived in the UK Biobank (there are no Middle Eastern samples in 1000 Genomes), yielding an 81.1% precision and a 97.0% recall rate compared to demographic-based information. This practical approach of clustering genetically similar individuals utilizing existing biobank data may facilitate downstream analyses, such as genomewide association studies or polygenic risk scores in underrepresented populations in genetic studies.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Twin Births in 42 Sub-Saharan African Countries from 1986 to 2016: Frequency, Trends and Factors of Variation. 1986年至2016年42个撒哈拉以南非洲国家的双胞胎出生：频率、趋势和变异因素。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-22 DOI: 10.1017/thg.2025.18

Adama Ouedraogo, Gilles Pison, Sophie le Coeur, Abdramane B Soura

{"title":"Twin Births in 42 Sub-Saharan African Countries from 1986 to 2016: Frequency, Trends and Factors of Variation.","authors":"Adama Ouedraogo, Gilles Pison, Sophie le Coeur, Abdramane B Soura","doi":"10.1017/thg.2025.18","DOIUrl":"https://doi.org/10.1017/thg.2025.18","url":null,"abstract":"Since the 1970s, twin birth rates have increased sharply in developed countries. In Africa, where the rate is the highest globally, its evolution and variation are poorly understood. This article aims to estimate the twinning rate in sub-Saharan African (SSA) countries throughout 1986-2016 and analyze its spatial, temporal, and ethnic variations. It also seeks to identify social and demographic factors associated with a high probability of twin births and outline a forecast of the twinning rate. We used data from 174 Demographic and Health Surveys from 42 countries. We supplemented them with the UN World Population Prospects (WPP). The twinning rate was calculated by reporting the number of twin births per thousand total births. We used logistic regression to analyze the factors associated with twin births. We projected the twinning rate based on WPP. The overall SSA twinning rate is 17.4 per 1000, but it has changed very little over time, and we expect it will grow a little between 2015 and 2050, increasing at most from 17.4 per 1000 to 18.4 per 1000. We also show significant differences in the twinning rate in SSA according to mother ethnicity. Most ethnic groups with high twinning rates belong to the large Bantu ethnic family. SSA remains the 'land of twins', with the twinning rate changing slowly. However, specific health policies must target twin births in SSA to address the public health challenges they present.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-17"},"PeriodicalIF":1.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Perinatal Outcomes Following Selective Fetal Terminations of Complicated Monochorionic Pregnancies: Experience From a Referral Center in Southern Spain. 复杂单绒毛膜妊娠选择性终止胎儿后的围产期结局：来自西班牙南部转诊中心的经验。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-22 DOI: 10.1017/thg.2025.16

Melisa De Pauli, Pilar Carretero Lucena, Andrea Samper Girona, Olga Ocón Hernández, José Alejandro Ávila Cabreja, Francisca Sonia Molina

{"title":"Perinatal Outcomes Following Selective Fetal Terminations of Complicated Monochorionic Pregnancies: Experience From a Referral Center in Southern Spain.","authors":"Melisa De Pauli, Pilar Carretero Lucena, Andrea Samper Girona, Olga Ocón Hernández, José Alejandro Ávila Cabreja, Francisca Sonia Molina","doi":"10.1017/thg.2025.16","DOIUrl":"https://doi.org/10.1017/thg.2025.16","url":null,"abstract":"The objective of this study was to to describe perinatal outcomes in monochorionic twin pregnancies after selective fetal reduction using bipolar cord coagulation (BCC) or interstitial laser ablation (ILA). This retrospective cohort study included monochorionic twin pregnancies requiring selective fetal reduction between 2008 and 2023 at a referral center in Spain. Maternal and perinatal data were collected and analyzed to compare outcomes between BCC and ILA techniques. The primary outcome was the survival of the co-twin, while secondary outcomes included gestational age at delivery, the incidence of PPROM, birth weight and long-term neurodevelopmental outcomes. Eighty-four procedures were performed (30 ILA, 54 BCC). The overall co-twin survival rate was 80%, with BCC showing a higher survival rate (87%) compared to ILA (67%, p = .026). Fetal death before 24 weeks was more common in ILA (30%) than BCC (7.4%, p = .010). The mean gestational age at delivery was lower in BCC (36.6 weeks) than ILA (38.6 weeks, p = .021), and preterm delivery was more frequent in BCC (50%) compared to ILA (14%, p = .005). BCC seems to have a better overall survival than ILA in complicated monochorionic twins' selective terminations. However, we could not clarify whether this difference was due to the technique itself or the different gestational age at the time of the procedure as well as the specific indication.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Financial Stressors and Risk of Suicidal Behavior in a Swedish National Cohort. 瑞典国家队列的财务压力因素和自杀行为风险。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-22 DOI: 10.1017/thg.2025.19

Alexis C Edwards, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist, Kenneth S Kendler

{"title":"Financial Stressors and Risk of Suicidal Behavior in a Swedish National Cohort.","authors":"Alexis C Edwards, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist, Kenneth S Kendler","doi":"10.1017/thg.2025.19","DOIUrl":"https://doi.org/10.1017/thg.2025.19","url":null,"abstract":"Although financial stressors are implicated as risk factors for suicidal behavior, these associations might be confounded by other factors. Furthermore, a move toward high-risk subgroup definition is necessary. The authors used Swedish national registry data to examine the associations between receipt of social welfare, unemployment benefits, or early retirement (N = 627,745-2,260,753) with suicidal behavior in Cox proportional hazards models. They applied co-relative models to improve causal inference, and examined interactions with aggregate genetic risk for suicidality. All three exposures were associated with elevated suicidal behavior risk. Initial hazard ratios for suicide attempt ranged from 1.37-3.86, were similar for suicide death, and declined after controlling for psychopathology and time elapsed after exposure. Age at registration differentially impacted risk of suicidal behavior. Aggregate genetic liability for suicidality was associated with risk, but its effect was not moderated by financial stress. Financial stressors are associated with suicidal behavior risk even after controlling for psychopathology. Associations are attributable in part to familial confounding, though a potentially causal pathway was observed in most cases. Suicidality risk varied as a function of sex and age at exposure; these findings could be used to identify subgroups at high risk who warrant targeted prevention.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Abstracts for the 47th Human Genetics Society of Australasia Annual Scientific Meeting, Gold Coast, Queensland, Australia, 10-13 August 2024. 第47届澳大利亚人类遗传学会年度科学会议，澳大利亚昆士兰黄金海岸，2024年8月10-13日。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-17 DOI: 10.1017/thg.2025.7

引用次数: 0

Capturing Gender Diversity in Twin Research. 捕捉双胞胎研究中的性别多样性。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-15 DOI: 10.1017/thg.2025.14

Will Conabere, Anja Ravine, Louise Bourchier, Sue Malta, Jessica Tyler, Shuai Li, John L Hopper, Ken C Pang

引用次数: 0

Abstracts from the 19th International Congress on Twin Studies, 26-28 September 2024. 第19届国际双胞胎研究大会摘要，2024年9月26-28日。

IF 1 4区医学

Twin Research and Human Genetics Pub Date : 2025-04-14 DOI: 10.1017/thg.2025.12

引用次数: 0