Parity modifies the effect of genetic variants associated with gestational duration and birth weight.

Gestational duration and birth weight are linked to both short- and long-term adverse health outcomes in mothers and their offspring. Previous genome-wide association studies on these pregnancy outcomes have been successful but have overlooked the number of a mother's previous pregnancies. In this study, we explored if parity (the number of children a mother has previously delivered) modifies the maternal or foetal genetic effect of gestational duration and birth weight (gene × parity interactions) using data from the Norwegian Mother, Father, and Child Cohort Study in up to 58,528 mothers and their offspring.

The Lithuanian Stroke Database: selection of national stroke care performance measures.

Introduction: The Lithuanian Stroke Database (StrokeLT) aims to automate data collection and key performance indicator (KPI) monitoring across all stroke-ready hospitals, addressing the limitations of manual processes and facilitating evidence-based improvements in stroke care nationwide. This publication outlines the selection process and target values of the KPIs designed to standardise and enhance stroke care quality in Lithuania.

Study Population: The database will include all adult patients diagnosed with stroke or transient ischemic attack (TIA), admitted to Lithuanian stroke-ready hospitals, encompassing approximately 9,582 annual stroke and 1,899 TIA admissions based on 2023 data.

Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes.

Genotype-based approaches for the estimation of SNP-based narrow-sense heritability ([Formula: see text]) have limited utility in pregnancy-related outcomes due to confounding by the shared alleles between mother and child. Here, we propose a haplotype-based approach to estimate the genetic variance attributable to three haplotypes - maternal transmitted ([Formula: see text]), maternal non-transmitted ([Formula: see text]) and paternal transmitted ([Formula: see text]) in mother-child pairs. We show through extensive simulations that our haplotype-based approach outperforms the conventional and contemporary approaches for resolving the contribution of maternal and fetal effects, particularly when m1 and p1 have different effects in the offspring.

The influence of fetal sex on maternal blood pressure in pregnancy.

Background: Pregnancy with a male fetus carries a higher risk of term pre-eclampsia than pregnancy with a female fetus. Based on evidence that maternal blood pressure (BP) may be raised in pregnancies with Beckwith-Wiedemann syndrome (fetal overgrowth), a possible contributing factor to the association between male sex and term pre-eclampsia is that males grow faster, reaching ~130 g higher birth weight, on average, than females. The association between fetal sex and maternal BP in healthy pregnancies is not known.

Cesarean section and the gestational duration of subsequent pregnancies: A nationwide register-based cohort study.

Introduction: Preterm delivery risk is increased for women with a previous cesarean section, which are becoming more common worldwide. However, this risk is based on studies which have not fully accounted for selection bias, and the studied outcomes have been limited to the study of early deliveries. This study aimed to determine the impact of previous delivery modes on the incidence of deviant duration of subsequent pregnancies.

Endometriosis-Related Genetic Factors and Their Role in Preterm Birth: A Two-Sample Mendelian Randomisation Study.

Objective: Endometriosis affects 10% of women worldwide and is linked to adverse pregnancy outcomes, including preterm birth. Recent epidemiological and genetic studies indicate that endometriosis may influence gestational duration and the likelihood of preterm birth. This study aimed to estimate the direct genetic causal effects of endometriosis on gestational duration and preterm birth using Mendelian randomisation (MR) analysis, leveraging genetic data from recent genome-wide association studies (GWASs).

Exploring the association of parity and its interaction with history of preterm delivery on gestational duration.

Purpose: Preterm delivery is a major cause of child mortality. While the relationship between parity and preterm delivery is known, its association with gestational duration and variability remains underexplored. Differences in variance may suggest interaction with other well-established risk factors.

Time-varying effects are common in genetic control of gestational duration.

Preterm birth is a major burden to neonatal health worldwide, determined in part by genetics. Recently, studies discovered several genes associated with this trait or its continuous equivalent-gestational duration. However, their effect timing, and thus clinical importance, is still unclear.

Time-varying effects are common in genetic control of gestational duration.

Preterm birth is a major burden to neonatal health worldwide, determined in part by genetics. Recently, studies discovered several genes associated with this trait or its continuous equivalent - gestational duration. However, their effect timing, and thus clinical importance, is still unclear.

Epidemic changepoint detection in the presence of nuisance changes.

Unlabelled: Many time series problems feature epidemic changes-segments where a parameter deviates from a background baseline. Detection of such changepoints can be improved by accounting for the epidemic structure, but this is currently difficult if the background level is unknown. Furthermore, in practical data the background often undergoes nuisance changes, which interfere with standard estimation techniques and appear as false alarms.

Characterization of the genetic architecture of infant and early childhood body mass index.

Early childhood obesity is a growing global concern; however, the role of common genetic variation on infant and child weight development is unclear. Here, we identify 46 loci associated with early childhood body mass index at specific ages, matching different child growth phases, and representing four major trajectory patterns. We perform genome-wide association studies across 12 time points from birth to 8 years in 28,681 children and their parents (27,088 mothers and 26,239 fathers) in the Norwegian Mother, Father and Child Cohort Study.

A changepoint prefilter for sound event detection in long-term bioacoustic recordings.

Long-term soundscape recordings are useful for a variety of applications, most notably in bioacoustics. However, the processing of such data is currently limited by the ability to efficiently and reliably detect the target sounds, which are often sparse and overshadowed by environmental noise. This paper proposes a sound detector based on changepoint theory applied to a wavelet representation of the sound.

Wavelet Screening: a novel approach to analyzing GWAS data.

Background: Traditional methods for single-variant genome-wide association study (GWAS) incur a substantial multiple-testing burden because of the need to test for associations with a vast number of single-nucleotide polymorphisms (SNPs) simultaneously. Further, by ignoring more complex joint effects of nearby SNPs within a given region, these methods fail to consider the genomic context of an association with the outcome.

Results: To address these shortcomings, we present a more powerful method for GWAS, coined 'Wavelet Screening' (WS), that greatly reduces the number of tests to be performed.

The genetic architecture of sporadic and multiple consecutive miscarriage.

Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic miscarriage, 750 cases of European ancestry for multiple (≥3) consecutive miscarriage, and up to 359,469 female controls. We identify one genome-wide significant association (rs146350366, minor allele frequency (MAF) 1.

Protein Concentrations of Thrombospondin-1, MIP-1β, and S100A8 Suggest the Reflection of a Pregnancy Clock in Mid-Trimester Amniotic Fluid.

The development of immunoassays enables more sophisticated studies of the associations between protein concentrations and pregnancy outcomes, allowing early biomarker identification that can improve neonatal outcomes. The aim of this study was to explore associations between selected mid-trimester amniotic fluid proteins and (1) overall gestational duration and (2) spontaneous preterm delivery. A prospective cohort study, including women undergoing mid-trimester transabdominal genetic amniocentesis, was performed in Gothenburg, Sweden, 2008-2016 (n = 1072).

Dissecting maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes, and adult phenotypes: A mendelian-randomization and haplotype-based genetic score analysis in 10,734 mother-infant pairs.

Background: Many maternal traits are associated with a neonate's gestational duration, birth weight, and birth length. These birth outcomes are subsequently associated with late-onset health conditions. The causal mechanisms and the relative contributions of maternal and fetal genetic effects behind these observed associations are unresolved.

Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth.

Infant and childhood growth are dynamic processes with large changes in BMI during development. By performing genome-wide association studies of BMI at 12 time points from birth to eight years (9286 children, 74,105 measurements) in the Norwegian Mother, Father, and Child Cohort Study, replicated in 5235 children, we identify a transient effect in the leptin receptor (LEPR) locus: no effect at birth, increasing effect in infancy, peaking at 6-12 months (rs2767486, P = 2.0 × 10, β = 0.

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.

The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P = 3.

Associations between maternal dietary patterns and infant birth weight, small and large for gestational age in the Norwegian Mother and Child Cohort Study.

Background/objectives: To assess whether quality of maternal diet affects birth weight and the risk of small for gestational age (SGA) and/or large for gestational age (LGA) babies.

Subjects/methods: This study is based on the Norwegian Mother and Child Cohort Study (MoBa) and includes 65,904 pregnant women who answered a validated food frequency questionnaire at mid-pregnancy. Three maternal dietary patterns were extracted based on characteristics of food items in each pattern.

Uterine distention as a factor in birth timing: retrospective nationwide cohort study in Sweden.

Objectives: To determine whether uterine distention is associated with human pregnancy duration in a non-invasive observational setting.

Design: Retrospective cohort study modelling uterine distention by interaction between maternal height and uterine load.

Setting: The study is based on the 1990-2013 population data from all delivery units in Sweden.