Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services.

In recent decades, genetic genealogy has become popular as a result of direct-to-consumer (DTC) genetic testing. Some DTC genetic testing companies offer genetic relative-finder (GRF) services that compare the DNA of consenting participants to identify genetic relatives among them and provide each participant a list of their relative matches. We surveyed a convenience sample of GRF service participants to understand the prevalence of discoveries and associated experiences. Almost half (46%) of the 23,196 respondents had participated in GRF services only for non-specific reasons that included interest in building family trees and general curiosity. However, most (82%) also learned the identity of at least one genetic relative. Separately, most respondents (61%) reported learning something new about themselves or their relatives, including potentially disruptive information such as that a person they believed to be their biological parent is in fact not or that they have a sibling they had not known about. Respondents generally reported that discovering this new information had a neutral or positive impact on their lives, and most had low regret regarding their decision to participate in GRF services. Yet some reported making life changes as a result of their discoveries. Compared to respondents making other types of discoveries, those who learned that they were donor conceived reported the highest decisional regret and represented the largest proportion reporting net-negative consequences for themselves. Our findings indicate that discoveries from GRF services may be common and that the consequences for individuals, while generally positive, can be far-reaching and complex.

Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples.

Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and rare conditions. The implementation of a robust and effective quality control system for sample identification and tracking throughout the WES process is essential. We established a multiplex panel that included 22 coding single-nucleotide polymorphism (cSNP) loci. The personal identification and paternity identification abilities of the panel were evaluated, and a preliminary validation of the practical feasibility of the panel was conducted in a clinical WES case. These results indicate that the cSNP panel could be a useful tool for sample tracking in WES.

Development of eighteen novel microsatellite loci for Masked Bobwhite, Colinus virginianus ridgwayi.

BACKGROUND: Masked Bobwhite (Colinus virginianus ridgwayi) is a critically-endangered New World quail species endemic to Sonoran Desert grasslands of North America. It suffered severe population declines during the nineteenth and twentieth centuries, with its persistence now reliant upon a captive breeding program that requires careful genetic management to maintain extant genetic diversity. Although nuclear microsatellite DNA markers existed for the closely related Northern Bobwhite (C. virginianus), none were available for Masked Bobwhite to inform necessary management decisions. METHODS AND RESULTS: Paired-end Illumina© sequencing was conducted to screen the Masked Bobwhite genome for microsatellite loci. We identified 18 loci exhibiting high polymorphism and limited deviations from genetic equilibrium expectations. These loci were amplified in 78 individuals. Familial relationships were reconstructed via sibship methods and compared to manually-curated pedigree data. Thirteen of fifteen full-sibling groups in the pedigree were exactly reconstructed (86.6%). Three other full-sibling groups partially matched pedigree relationships with high statistical confidence, and likely represented pedigree inaccuracies. Four additional full-sibling pairs were identified with low statistical confidence and likely resulted from analytical artifacts. CONCLUSIONS: The novel microsatellite loci accurately reconstructed parent-offspring and sibling relationships. These loci will be useful for guiding genetic management decisions and identifying pedigree inaccuracies in the captive breeding program.

Evaluation of the effectiveness of single nucleotide polymorphisms compared to microsatellite markers for parentage verification in Moroccan horses.

The International Society for Animal Genetics (ISAG) currently advocates for a transition towards single nucleotide polymorphism (SNP) markers as a potential alternative for equine parentage verification. To ascertain the efficacy of this transition, it is imperative to evaluate the performance of parentage testing using SNPs in juxtaposition with short tandem repeats (STRs). As per ISAG's recommendation, we used an equine genotyping-by-sequencing panel with 144 SNPs for this purpose. Equine parentage is currently realized using 16 microsatellites (STRs) excluding the LEX3 marker. In this study, 1074 horses were genotyped using the 144 SNPs panel, including 432 foals, 414 mares, and 228 stallions, from five different breeds: 293 Arabians, 167 Barbs, 189 Thoroughbreds, 73 Anglo-Arabians, and 352 Arabian-Barbs. As a result, two SNPs markers were eliminated from the panel system due to inconsistent amplification across all examined individuals leaving 142 SNPs markers for analysis. A comparative analysis between SNPs and STRs markers revealed that the mean expected heterozygosity was 0.457 for SNPs and 0.76 for STRs, while the mean observed heterozygosity stood at 0.472 for SNPs and 0.72 for STRs. Furthermore, the probability of identity was calculated to be 5.722 × 10-57 for SNPs and 1.25 × 10-15 for STRs markers. In alignment with the Hardy-Weinberg equilibrium in polyploids test, 110 out of the total SNPs were consistent with the Hardy-Weinberg equilibrium in polyploids test (p > 0.05). Employing both SNPs and STRs markers, the mean polymorphic information content was discerned to be 0.351 for SNPs and 0.72 for STRs. The cumulative exclusion probabilities for SNP markers exceeded 99.99%, indicating that the 142 SNPs panel might be adequate for parentage testing. In contrast, when utilizing STRs markers, the combined average exclusion probabilities for one and both parents were determined to be 99.8% and 99.9%, respectively. Our comprehensive study underscores the potential of SNPs in equine parentage verification, especially when compared to STRs in terms of exclusion probabilities. As a corollary, the application of SNPs for parentage verification and identification can significantly contribute to the conservation initiative for the five Moroccan horse breeds. Nonetheless, further research is required to address and replace the deficient SNPs within the panel.

Revealing misattributed parentage through the integration of genetic information into the electronic health record.

The integration of genetic information (GI) into the electronic health record (EHR) seems inevitable as the mainstreaming of genomics continues. Such newly provided accessibility to GI could be beneficial for improving health care, as well as for supporting clinical decision-making and health management. Notwithstanding these promising benefits, the automatic integration of GI into the EHR, allowing unrestricted access to one's GI through patient portals, carries various knowledge-related risks for patients. This article is focused on the potential case of inadvertently revealing misattributed parentage through such practice. The article aims to identify key clinical and ethical implications of such revelation for adult patients. Clinical implications include, for example, altering the physician-patient interaction and the need to enhance physician's genetic literacy to improve genetic-information-specific communication skills. Ethical implications yield arguments supporting disclosure of MP, such as autonomy, individuals' right to know medical information pertaining to them, and the right to know one's genetic origins. Arguments opposing disclosure of MP centre on the right not to know GI and concerns for post-disclosure family relationships. Following the clinical and ethical analyses of these respective implications, we consider how such integration of GI into the EHR ought to be carried out, ethically. We therefore suggest a solution, featuring an autonomy-based approach, built around EHR users' right not to know. Our solution of nuanced consent options (including a 'genetic ignorance option') is designed to enable patients' informed exposure to GI through the EHR, allowing them some control over their self- and familial narrative.

Exploring genetic counselors' experiences with non-paternity in clinical settings.

Non-paternity (NP) is a challenging dilemma faced by genetics providers and there is little consensus on whether this finding should be disclosed. Discussions in the literature are highly theoretical, with limited research regarding how disclosure decisions are enacted in practice. We explored genetic counselors' (GCs) clinical experiences with NP to understand if, how, and why this finding is communicated. Our semi-structured interviews with genetic counselors in the United States and Canada were analyzed using reflexive thematic analysis to analyze data inductively, describe themes, and present a meaningful interpretation of the data. Eighteen participants who responded to list-serv messages were interviewed. Our framework describes five salient themes: (1) GC-lab relationship: the GCs awareness of laboratory processes such as quality control metrics that can uncover NP findings and the way in which a finding of NP was disclosed by the laboratory had an impact on disclosure decisions. This triggered a decision-making trajectory that involved (2) consultation, (3) ethical reasoning, and (4) practical constraints. GCs frequently consulted other professionals during decision-making. These conversations impacted disclosure decisions with some consultations carrying greater weight than others. GCs weighed moral concepts of patient autonomy, medical relevance, and preventing harm to rationalize decisions. Access to patients and documentation requirements often dictated how disclosure occurred. Finally, once a decision had been made and enacted, GCs used the experience to reconsider their approach to (5) consenting in future cases, with some GCs altering their pre-test counseling to always include a discussion of NP. Although NP scenarios are frequently unique in context, our findings demonstrate several common decision-making factors GCs harness to navigate the identification of NP through clinical genetic testing.

Microsatellite imputation using SNP data for parentage verification in four Italian sheep breeds.

Microsatellite markers (MS) have been widely used for parentage verification in most of the livestock species over the past decades mainly due to their high polymorphic information content. In the genomic era, the spread of genotype information as single-nucleotide polymorphism (SNP) has raised the question to effectively use SNPs also for parentage testing. Despite the clear advantages of SNP panels in terms of cost, accuracy, and automation, the transition from MS to SNP markers for parentage verification is still very slow and, so far, only routinely applied in cattle. A major difficulty during this transition period is the need of SNP data for parents and offspring, which in most cases is not yet feasible due to the genotyping cost. To overcome the unavailability of same genotyping platform during the transition period, in this study we aimed to assess the feasibility of a MS imputation pipeline from SNPs in four native sheep dairy breeds: Comisana (N = 331), Massese (N = 210), Delle Langhe (N = 59) and Sarda (N = 1003). Those sheep were genotyped for 11 MS and with the Ovine SNP50 Bead Chip. Prior to imputation, a quality control (QC) was performed, and SNPs located within a window of 2 Mb from each MS were selected. The core of the developed pipeline was made up of three steps: (a) storing of both MS and SNP data in a Variant Call Format file, (b) masking MS information in a random sample of individuals (10%), (c) imputing masked MS based on non-missing individuals (90%) using an imputation program. The feasability of the proposed methodology was assessed also among different training - testing split ratio, population size, number of flanking SNPs as well as within and among breeds. The accuracy of the MS imputation was assessed based on the genotype concordance as well as at parentage verification level in a subset of animals in which assigned parents' MS were available. A total of 8 MS passed the QC, and 505 SNPs were located within the ±2 Mb window from each MS, with an average of 63 SNPs per MS. The results were encouraging since when excluding the worst imputed MS (OARAE129), and regardless on the analyses performed (within and across breeds) for all breeds, we achieved an overall concordance rate over 94%. In addition, on average, the imputed offspring MS resulted in equivalent parentage outcome in 94% of the cases when compared to verification using original MS, highlighting both the feasibility and the eventual practical advantage of using this imputation pipeline.

Prepartum and postpartum mothers' and fathers' feelings of frustration in response to infant crying.

In this cross-sectional study performed in Canada, we evaluated the frustration levels of prepartum and postpartum mother and father couple-pairs. Our goal was to determine if there were differences in frustration levels between mothers and fathers while listening to prolonged infant crying, and further, how frustration levels might differ between prepartum and postpartum samples. Using two discrete groups, prepartum (Sample 1; N = 48) and postpartum (Sample 2; N = 44) mother and father couple-pairs completed 600 s of listening to audio-recorded infant cry sounds. Participants continuously reported their subjective frustration using a computerized Continuous Visual Analog Scale (CVAS). There was no significant difference in frustration responses between mothers and fathers across both prepartum and postpartum samples. Postpartum mothers and fathers experienced greater frustration than their prepartum counterparts, and frustration increased faster in postpartum couples compared to prepartum couples. Informing first-time parents of the universal experiences of frustration to prolonged crying bouts that are characteristic of their infant's early weeks of life may lead to greater understanding towards their infant, and perhaps decreased instances of harmful responses.

En este estudio transeccional, evaluamos los niveles de frustración de las parejas de mamás y papás antes y después del parto. Nuestro propósito fue determinar si hay diferencias entre mamás y papás en cuanto a los niveles de frustración mientras escuchan el prolongado llanto del infante, y cómo los niveles de frustración pudieran diferir entre grupos­muestra antes y después del parto. Usando dos grupos discretos, antes del parto (grupo­muestra 1; N = 48) y después del parto (grupo­muestra 2; N = 44), las parejas de mamás y papás completaron 600 segundos escuchando sonidos grabados en audio de llanto de infante. Los participantes continuamente reportaron su frustración subjetiva usando una escala análoga visual continua computarizada (CVAS). No hubo diferencia significativa en las respuestas de frustración entre mamás y papás a lo largo de los grupos­muestra tanto antes del parto como después del parto. Las mamás y papás en el grupo­muestra después del parto experimentaron mayor frustración que sus homólogos en el grupo­muestra antes del parto, y la frustración aumentó más rápido en las parejas del grupo­muestra después del parto tal como se les comparó con las parejas del grupo­muestra antes del parto. Estos resultados sugieren que las parejas primíparas posterior al parto están más propensas a experimentar considerables cantidades de frustración como respuesta al llanto del infante después que el bebé ha nacido. Informarles a los progenitores primerizos acerca de las experiencias generales de la frustración a los prolongados ataques de llanto que son característicos de las primeras semanas de vida de su infante pudiera llevar a una mayor comprensión hacia su infante y quizás disminuir las instancias de respuestas dañinas.

Dans cette étude transversale nous avons évalué les niveaux de frustration des couples­paires mère et père avant et après la naissance. Notre but était de déterminer s'il existe des différences entres les mères et les pères dans leurs niveaux de frustration en entendant des pleurs de bébé prolongés et de quelle manière les niveaux pourraient différer entre les échantillons avant la naissance et après la naissance. En utilisant deux groupes discrets, avant la naissance (Echantillon 1; N = 48) et après la naissance (Echantillon 2; N = 44) les couples­paires mère et père ont écouté 600 seconds d'enregistrements de pleurs de bébés. Les participants ont fait état de leur frustration subjective en utilisant une échelle analogique visuelle continue informatisée (CVAS). Il s'est avéré n'y avoir aucune différence importante dans les réactions de frustration entre les mères et les pères au travers des échantillons à la fois avant l'accouchement et après l'accouchement. Ces résultats suggèrent que les coupes postpartum primipares sont plus à même de faire l'expérience de niveaux élevés de frustration en réaction aux pleurs du bébé une fois le bébé arrivé. Informer les parents qui sont parents pour la première fois des expériences universelles de frustration aux crises de pleurs prolongées qui caractérisent les premières semaines de la vie des bébés peut mener à une plus grande compréhension de leur bébé et peut­être à une baisse des case d réactions néfastes.

Household chaos and parenting: The effect of household chaos does not depend on sensory-processing sensitivity and self-regulation.

Previous studies have found evidence for a causal effect of household chaos on parenting and suggest that this effect may be stronger for parents with higher sensory-processing sensitivity (SPS) or lower self-regulation. This study investigates whether primary caregivers of children around age 1.5-2 years show greater improvement in parenting after a decrease in household chaos if parents have higher SPS or lower self-regulation. The study employs a randomized controlled trial (RCT) design with an intervention aimed at reducing household chaos. A total of 125 parents of toddlers participated in the study. All participants were living in the Netherlands at the time of the study, 89% identified with the Dutch ethnicity and 11% with a non-Dutch ethnicity. Self-report as well as objective measures were used, including videotaped parent-child interactions and home observations. The effect of the intervention on parenting did not depend on SPS or self-regulation. When studying the relation between change in measures of household chaos and posttest parenting, decreased self-reported household chaos was related to less harsh discipline in parents with higher self-regulation, and to more harsh discipline in parents with lower self-regulation. However, this is a tentative finding that should be further explored in future research.

Estudios anteriores han encontrado evidencia de un efecto casual del caos en el hogar sobre la crianza y sugieren que este efecto pudiera ser más fuerte para progenitores con una más alta sensibilidad del proceso sensorial (SPS) o más baja autorregulación. Este estudio investiga si quienes primariamente cuidan a los niños de alrededor de 1.5-2 años muestran un más alto nivel de mejoras en la crianza después de una disminución en el caos del hogar si los progenitores poseen un alto nivel de SPS o baja autorregulación. El estudio emplea un diseño RCT con una intervención dirigida a reducir el caos en el hogar. En el estudio participaron 125 progenitores de niños pequeñitos. Todos los participantes vivían en Holanda al momento del estudio, 89% se identificaba con la etnicidad holandesa y 11% con una etnicidad no holandesa. Se usaron auto reportes, así como medidas de objetivos, incluyendo interacciones entre progenitor y niño grabadas en video y observaciones en casa. El efecto de la intervención sobre la crianza no dependió de SPS o de la autorregulación. Cuando se estudiaba la relación entre el cambio en las medidas del caos en el hogar y la crianza posterior a la prueba, la disminución del auto reportado caos en el hogar se relacionó con menos disciplina dura en progenitores con más alta autorregulación, así como con más disciplina dura en progenitores con más baja autorregulación. Sin embargo, se trata de un resultado tentativo que se debe explorar más en la futura investigación.

Des études précédentes ont trouvé peu de preuves à un effet de cause du chaos domestique sur le parentage et suggèrent que cet effet pourrait être plus fort pour les parents avec une sensibilité du traitement sensoriel (STS) plus élevée et une auto-régulation plus faible. Cette étude évalue si les personnes prenant soin des enfants autour de l'âge de 1,5-2 ans font preuve d'une plus grande amélioration dans le parentage avec moins de chaos domestique si les parents ont une STS plus élevée ou une autorégulation plus basse. Cette étude a employé un plan ECR avec une intervention destinée à réduire le chaos domestique. 125 parents de jeunes enfants ont participé à l'étude. Tous les participants vivaient aux Pays Bas au moment de l'étude, 89% s'identifiant comme d'ethnicité hollandaise et 11% d'ethnicité non hollandaise. Des auto-évaluations ainsi que des mesures objectives ont été utilisées, en utilisant des interactions parent-enfant filmées à la vidéo et des observations à domicile. L'effet de l'intervention sur le parentage n'a pas dépendu de la STS ou de l'auto-régulation. En étudiant la relation entre le changement dans les mesures de chaos domestique et de parentage posttest, le chaos autosignalé décru à une discipline moins sévère chez les parents avec une autorégulation plus élevée, et à une discipline plus sévère chez les parents avec une autorégulation moins élevée. Cependant c'est une constatation tentative qui devrait être explorée plus profondément dans des recherches futures.

Identification of the efficacy of parentage testing based on bi-allelic autosomal single nucleotide polymorphism markers in Taiwanese population.

Parentage testing is crucial for forensic DNA analysis, using short tandem repeats (STRs). Single nucleotide polymorphisms (SNPs) with high minor allele frequency (MAF) are promising for human identification. This study aimed to develop SNP markers for parentage testing in the Taiwanese population and compare their accuracy with STRs. The TPMv1 SNP microarray (714,457 SNPs) was used to screen 180,000 Taiwanese individuals and analyze the SNP data using PLINK. After quality control, allelic distribution, and MAF considerations, a set of SNPs with significant inheritance information was selected. Parentage testing was conducted on 355 single parent-child pairs using both STRs and SNPs, employing three kinship algorithms: identity by descent, kinship-based inference for genome-wide association studies, and the combined paternity index/probability of paternity (CPI/PP). An Affymetrix signature probe for kinship testing (ASP) was also used. Based on the quality control and selection criteria, 176 SNPs with MAF > 0.4995 were selected from the Taiwanese population. The CPI/PP results calculated using SNPs were consistent with the STR results. The accuracy of the SNPs used in the single-parent-child parentage testing was > 99.99%. The set of 176 SNPs had a higher identification rate in the single parent-child parentage test than in the ASP. The CPI/PP value calculated using 176 SNPs was also more accurate than that calculated using ASP. Our findings suggest that these 176 SNPs could be used for single-parent-child parentage identification in the Taiwanese population.

Distinct patterns of inheritance shape life-history traits in steelhead trout.

Life-history variation is the raw material of adaptation, and understanding its genetic and environmental underpinnings is key to designing effective conservation strategies. We used large-scale genetic pedigree reconstruction of anadromous steelhead trout (Oncorhynchus mykiss) from the Russian River, CA, USA, to elucidate sex-specific patterns of life-history traits and their heritability. SNP data from adults returning from sea over a 14-year period were used to identify 13,474 parent-offspring trios. These pedigrees were used to determine age structure, size distributions and family sizes for these fish, as well as to estimate the heritability of two key life-history traits, spawn date and age at maturity (first reproduction). Spawn date was highly heritable (h2 = 0.73) and had a cross-sex genetic correlation near unity. We provide the first estimate of heritability for age at maturity in ocean-going fish from this species and found it to be highly heritable (h2 from 0.29 to 0.62, depending on sex and method), with a much lower genetic correlation across sexes. We also evaluated genotypes at a migration-associated inversion polymorphism and found sex-specific correlations with age at maturity. The significant heritability of these two key reproductive traits in these imperiled fish, and their patterns of inheritance in the two sexes, is consistent with predictions of both natural and sexually antagonistic selection (sexes experience opposing selection pressures). This emphasizes the importance of anthropogenic factors, including hatchery practices and ecosystem modifications, in shaping the fitness of this species, thus providing important guidance for management and conservation efforts.

Parentage exclusion of close relatives in haplodiploid species.

Parentage exclusion probability is usually calculated to evaluate the informativeness of a set of markers for, and the statistical power of, a parentage analysis. Equations for parentage exclusion probability have been derived in various scenarios such as paternity exclusion when maternity is known or unknown or when candidate males are unrelated or loosely related (being from the same subpopulation) to the father. All previous work assumes a diploid species. Although marker-based parentage analyses have been conducted in haploidiploid species (such as ants, bees and wasps) for diploid offspring at the individual level or haploid offspring at the class level, rigorously derived formulations of parentage exclusion probability for haploid offspring at the individual level are lacking, which prevents the precise evaluation of the informativeness for and the statistical power of a parentage analysis. In this study we derive equations for the exclusion probability of maternity of a haploid male when multiple mother candidates (workers or queens) are unrelated or fullsibs to the mother. The usefulness of the equations is exemplified by numerical examples, and the results are discussed in the context of the study of worker reproductivity in eusocial haplodiploid species. The results are especially valuable for an optimal experimental design in determining sampling intensities (e.g. number of markers and number of individuals) to achieve satisfactory statistical power of a parentage analysis in investigating workers' reproductivity in eusocial haplodiploid species.

Shared pedigree relationships and transmission of unreduced gametes in cultivated banana.

BACKGROUND AND AIMS: Cultivated bananas resulted from inter(sub)specific hybridizations involving Musa species and subspecies (M. acuminata subspecies, M. schizocarpa, M. balbisiana) and the subsequent selection, centuries ago, of hybrids with parthenocarpic, seedless fruits. Cultivars have low fertility and are vegetatively propagated, forming groups of somaclones. Relatively few of them, mainly triploids, are grown on a large scale and characterization of their parental relationships may be useful for breeding strategies. Here we investigate parental relationships and gamete-type contributions among diploid and polyploid banana cultivars. METHODS: We used SNP genotyping data from whole-genome sequencing of 178 banana individuals, including 111 cultivars, 55 wild bananas and 12 synthetic F1 hybrids. We analysed the proportion of SNP sites in accordance with direct parentage with a global statistic and along chromosomes for selected individuals. KEY RESULTS: We characterized parentage relationships for 7 diploid cultivars, 11 triploid cultivars and 1 tetraploid cultivar. Results showed that both diploid and triploid cultivars could have contributed gametes to other banana cultivars. Diploids may have contributed 1x or 2x gametes and triploids 1x to 3x gametes. The Mchare diploid cultivar group, nowadays only found in East Africa, was found as parent of two diploid and eight triploid cultivars. In five of its identified triploid offspring, corresponding to main export or locally popular dessert bananas, Mchare contributed a 2x gamete with full genome restitution without recombination. Analyses of remaining haplotypes in these Mchare offspring suggested ancestral pedigree relationships between different interspecific banana cultivars. CONCLUSIONS: The current cultivated banana resulted from different pathways of formation, with implication of recombined or un-recombined unreduced gametes produced by diploid or triploid cultivars. Identification of dessert banana's parents and the types of gametes they contributed should support the design of breeding strategies.

Characterization of 25 new microsatellite markers for the green turtle (Chelonia mydas) and cross-species amplification in other marine turtle species.

BACKGROUND: The green sea turtle, Chelonia mydas, is a migratory species with a strong natal homing behavior leading to a complex population structure worldwide. The species has suffered severe declines in local populations; it is therefore crucial to understand its population dynamics and genetic structure to adopt appropriate management policies. Here, we describe the development of 25 new microsatellite markers specific to C. mydas and suitable for these analyses. METHODS AND RESULTS: They were tested on 107 specimens from French Polynesia. An average allelic diversity of 8 alleles per locus was reported and observed heterozygosity ranged from 0.187 to 0.860. Ten loci were significantly deviant from the Hardy-Weinberg equilibrium, and 16 loci showed a moderate to high level of linkage disequilibrium (4-22%). The overall Fis was positive (0.034, p-value < 0.001), and sibship analysis revealed 12 half- or full-sibling dyads, suggesting possible inbreeding in this population. Cross-amplification tests were performed on two other marine turtle species, Caretta caretta and Eretmochelys imbricata. All loci successfully amplified on these two species, though 1 to 5 loci were monomorphic. CONCLUSION: These new markers will not only be relevant for further analyses on the population structure of the green turtle and the two other species, but they will also be invaluable for parentage studies, for which a high number of polymorphic loci are necessary. This can provide important insight into male reproductive behavior and migration, an aspect of sea turtle biology that is of critical importance for the conservation of the species.

Genetic assessment improves conservation efforts for the critically endangered oceanic island endemic Hibiscus liliiflorus.

Hibiscus liliiflorus, endemic to the Indian Ocean island of Rodrigues, is one of the rarest plant species in the world; only 2 wild individuals remain. Previously, when 4 wild individuals remained, the Mauritian Wildlife Foundation (MWF) in Rodrigues propagated cuttings of them in their nursery, then planted seedlings produced in the nursery into 3 outplanted populations on the island. Our goals were to: 1) assess whether all 4 original wild genotypes are represented in the MWF nursery; 2) determine whether ex situ living collections at international botanical gardens maintain unique genotypes of H. liliiflorus; 3) assess whether nursery individuals have crossed or self-fertilized to produce seed and quantify their relative contributions to outplanted populations; and 4) provide recommendations for future conservation actions. We used a 2b-RADseq approach to produce 2,711 genome-wide single nucleotide polymorphisms (SNPs) from 98 samples. Genotype identity analysis, principal component analysis, and model-based clustering in STRUCTURE found 4 genotypes extant in Rodrigues but no unique genotypes in ex situ botanic garden collections. Only 3 genotypes are represented in the MWF nursery; the one remaining genotype is represented by an extant wild individual. Parentage analysis showed that seeds produced in the MWF nursery resulted from both self-fertilization and crossing between genotypes, a result supported by internal relatedness and hybrid index calculations. Each outplanted population is dominated by a subset of parental genotypes, and we propose actions to balance the parental contributions to outplanted populations. Our study highlights how genetic assessments of ex situ conservation projects help conserve critically endangered species.

Genomic assessment of larval odyssey: self-recruitment and biased settlement in the Hawaiian surgeonfish Acanthurus triostegus sandvicensis.

The gap between spawning and settlement location of marine fishes, where the larvae occupy an oceanic phase, is a great mystery in both natural history and conservation. Recent genomic approaches provide some resolution, especially in linking parent to offspring with assays of nucleotide polymorphisms. Here, the authors applied this method to the endemic Hawaiian convict tang (Acanthurus triostegus sandvicensis), a surgeonfish with a long pelagic larval stage of c. 54-77 days. They collected 606 adults and 607 juveniles from 23 locations around the island of O'ahu, Hawai'i. Based on 399 single nucleotide polymorphisms, the authors assigned 68 of these juveniles back to a parent (11.2% assignment rate). Each side of the island showed significant population differentiation, with higher levels in the west and north. The west and north sides of the island also had little evidence of recruitment, which may be due to westerly currents in the region or an artefact of uneven sampling. In contrast, the majority of juveniles (94%) sampled along the eastern shore originated on that side of the island, primarily within semi-enclosed Kane'ohe Bay. Nearly half of the juveniles assigned to parents were found in the southern part of Kane'ohe Bay, with local settlement likely facilitated by extended water residence time. Several instances of self-recruitment, when juveniles return to their natal location, were observed along the eastern and southern shores. Cumulatively, these findings indicate that most dispersal is between adjacent regions on the eastern and southern shores. Regional management efforts for Acanthurus triostegus and possibly other reef fishes will be effective only with collaboration among adjacent coastal communities, consistent with the traditional moku system of native Hawaiian resource management.

Childhood maltreatment history and trauma-specific predictors of parenting stress in new fathers.

For new fathers, parenting stress is a risk factor for impaired early parenting and child maltreatment perpetration. Predictors of parenting stress, including fathers' own experiences of trauma, could be useful intervention targets to support new fathers. We aim to examine associations between new fathers' own histories of child maltreatment, and their perinatal mental health, relationships, and parenting stress. We recruited 298 first-time fathers for a survey that measured child maltreatment history, trauma sequelae including posttraumatic stress disorder (PTSD), major depressive disorder (MDD), interpersonal reactivity, substance use, anger expression, coparenting quality, and parenting stress. On the Parenting Stress Index (PSI) (from 36 to 180), bivariate analysis demonstrated that new fathers who experienced child maltreatment (n = 94) had significantly higher parenting stress (x̅ = 85.3, σ = 18.7) than those who did not (n = 204; x̅ = 76.0, σ = 16.6; P < .000). Hierarchical linear regression modeling indicated that a child maltreatment history, PTSD, and MDD were significantly associated with parenting stress. The strongest predictors of parenting stress were coparenting quality and complex trauma sequelae-interpersonal reactivity and anger expression. Interventions to reduce fathers' parenting stress by targeting known mental health and relationship sequelae of maltreatment are promising avenues to breaking intergenerational transmission of child maltreatment and psychiatric vulnerability.

Para nuevos papás, el estrés de crianza es un factor de riesgo para la deficiente crianza temprana y para cometer maltrato infantil. Los factores de predicción del estrés de crianza, incluyendo las propias experiencias de trauma de los papás, pueden ser útiles metas de intervención para apoyar a los nuevos papás. Nos propusimos examinar las asociaciones entre las propias historias de maltrato de los nuevos papás, y su salud mental perinatal, relaciones y estrés de crianza. Reclutamos 298 papás primerizos para una encuesta que medía la historia de maltrato infantil, la secuela de trauma incluyendo el trastorno de estrés postraumático (PTSD), el trastorno depresivo serio (MDD), la reactividad interpersonal, el uso de sustancias, la expresión de ira, la calidad de la crianza compartida, así como el estrés de crianza. En el Índice de Estrés de Crianza (de 36-180), los análisis bivariantes demostraron que los nuevos papás que habían experimentado maltrato infantil (N = 94) tenían significativamente un mayor estrés de crianza (x̅ = 85.3, σ = 18.7) que aquellos que no habían tenido tal experiencia (N = 204; x̅ = 76.0, σ = 16.6; P<.000). El modelo de regresión lineal jerárquica indicó que una historia de maltrato infantil, PTSD y MDD estaban significativamente asociados con el estrés de crianza. Los más fuertes factores de predicción del estrés de crianza fueron la calidad de la crianza compartida y la compleja secuela de trauma-la reactividad interpersonal y la expresión de la ira. Las intervenciones para reducir el estrés de crianza de los papás por medio del enfoque en la salud mental conocida y las secuelas en la relación del maltrato son una vía prometedora para romper la transmisión intergeneracional del maltrato infantil y la vulnerabilidad siquiátrica.

Pour les nouveaux pères le stress de parentage est un facteur de risque pour le parentage précoce compromis et la perpétration de maltraitance de l'enfant. Les prédicteurs de stress de parentage, y compris les propres expériences de trauma des pères, pourraient être des cicles d'intervention utiles afin de soutenir les nouveaux pères. Nous nous sommes donné pour but d'examiner les liens entre le propre passé de maltraitance de l'enfant des nouveaux pères et leur santé mentale périnatale, leurs relations et le stress de parentage. Nous avons recruté 298 nouveaux pères (pères pour la première fois) pour un sondage mesurant l'histoire de la maltraitance de l'enfant, les séquelles de trauma y compris les troubles de stress post-traumatique (TSPT), les troubles dépressifs majeurs (MDD en anglais), la réactivité interpersonnelle, la toxicomanie, l'expression de colère et la qualité du co-parentage ainsi que le stress parental. Pour l'Index de Stress de Parentage (de 36-180), une analyse bivariée a montré que les nouveaux pères qui avaient fait l'expérience de maltraitance de l'enfance (N = 94) avaient un stress de parentage bien plus élevé (x̅ = 85,3, σ = 18,7) que ceux n'en ayant pas fait l'expérience (N = 204; x̅ = 76,0, σ = 16,6; P<,000). Un modèle de régression linéaire hiérarchique a indiqué qu'un passé de maltraitance de l'enfant, le TSPT et le MDD étaient fortement liés au stress de parentage. Les facteurs de prédiction les plus forts de stress de parentage étaient la qualité du co-parentage et les séquelles de trauma complexes - réactivité interpersonnelle et l'expression de la colère. Les interventions pour réduire le stress de parentage des pères en ciblant la santé mentale connue et les séquelles de maltraitance sont un chemin prometteur pour casser la transmission intergénérationnelle de la maltraitance de l'enfant et la vulnérabilité psychiatrique.

Looking back to light the path forward: Ghosts in the Nursery revisited.

The infant health movement was launched nearly 50 years ago with the publication of the now classic paper, Ghosts in the Nursery: A psychoanalytic approach to the problems of impaired infant-mother relationships, written by Selma Fraiberg, Edna Adelson, and Vivian Shapiro (1975). This paper offers us lessons for infant mental health practice that have been proven true time and again over the last 50 years. These lessons both underscore the factors essential to clinical progress across a range of interventions, and remind us of the significant challenges we face in these times of massive, global trauma and oppression, extreme economic hardship, and systemic racism. This commentary reviews the key lessons of Fraiberg and her colleagues' classic paper, addresses some of the challenges inherent in retaining the breadth and substance of Fraiberg's model in contemporary practice, and proposes a model for conceptualizing infant and early childhood mental health practice that is geared toward building the relational foundations of reflection (Slade, 2023).

Hace casi cincuenta años que el movimiento de salud infantil se inició con la publicación del ahora clásico ensayo Fantasmas en la guardería: Un acercamiento sicoanalítico a los problemas de relaciones infante-madre deterioradas, escrito por Selma Fraiberg, Edna Adelson y Vivian Shapiro (1975). Fantasmas en la guardería nos ofrece lecciones para la práctica de la salud mental infantil cuya validez ha sido demostrada una y otra vez a lo largo de los últimos 50 años. Estas lecciones enfatizan los factores que son esenciales para el progreso clínico a lo largo de una gama de intervenciones. Ellos también nos recuerdan los retos significativos que enfrentamos en estos tiempos de trauma y opresión global masivas, adversidades económicas extremas y racismo sistémico. Este comentario revisa las lecciones claves del clásico ensayo de Freiberg y sus colegas, se ocupa de algunos de los desafíos inherentes para mantener la amplitud y sustancia del modelo de Freiberg en la práctica contemporánea y propone un modelo para la conceptualización de la práctica de salud mental infantil y la temprana niñez, el cual está dirigido a establecer los cimientos de la reflexión con base en la relación (Slade, 2023) en la práctica clínica.

Le mouvement de la santé du nourrisson a été lancé il y a cinquante ans avec la publication d'un article désormais classique intitulé Fantômes dans la chambre d'enfants: Une approche psychanalytique des problèmes des relations enfants-mères déficientes, écrit par Selma Fraibert, Edna Adelson et Vivian Shapiro (1975). Fantômes dans la chambre d'enfants nous offre des leçons pour la pratique de santé mentale du nourrisson qui se sont avérées vraies au fil des 50 dernières années. Ces leçons soulignent les facteurs essentiels au progrès clinique au travers d'une gamme d'interventions. Elles nous rappellent également les défis importants auxquels nous faisons face à cette époque de trauma et d'oppression massive globale, de difficultés économiques extrêmes et de racisme systémique. Ce commentaire passe en revue les leçons clés de l'article classique de Fraibert et ses collègues, en adressant certains des défis inhérents à la nécessité de retenir l'ampleur et la substance du modèle de Fraiberg dans la pratique contemporaine et en proposant un modèle pour la conceptualisation de la pratique de santé mentale du nourrisson et de la petite enfance qui soit axé sur la construction de fondations relationnelles sur la réflexion (Slade 2023) dans la pratique Clinique.

"You do need to do the interaction": Mothers' perceptions of responsive parenting following a home-based parenting intervention.

Responsive parenting (also known as responsivity) is a dynamic and bidirectional exchange between the parent-child dyad and associated with a child's social and cognitive development. Optimal interactions require a sensitivity and understanding of a child's cues, responsiveness to the child's need, and a modification of the parent's behavior to meet this need. This qualitative study explored the impact of a home visiting program on mothers' perceptions of their responsivity to their children. This study is part of a larger body of research known as right@home, an Australian nurse home visiting program promoting children's learning and development. Preventative programs such as right@home prioritize population groups experiencing socioeconomic and psychosocial adversity. They provide opportunities to promote children's development through the enhancement of parenting skills and an increase in responsive parenting. Semi-structured interviews were conducted with 12 mothers, providing insight into their perceptions of responsive parenting. Four themes were extracted from the data using inductive thematic analysis. These indicated that: (1) mothers' perceived preparation for parenting, (2) recognition of mother and child needs, (3) response to mother and child needs, and (4) motivation to parent with responsiveness, were considered important. This research highlights the importance of interventions that focus on the parent-child relationship in increasing mother's parenting capabilities and promoting responsive parenting.

La crianza con sensibilidad (también conocida como crianza con capacidad de respuesta) es un dinámico intercambio en ambas direcciones entre la díada progenitor-niño, asociada con el desarrollo social y cognitivo del niño. Las interacciones óptimas requieren de una sensibilidad y comprensión de las señales del niño, capacidad de respuesta a la necesidad del niño, y de una modificación del comportamiento del progenitor para cumplir con esta necesidad. Este estudio cualitativo exploró el impacto de un programa de visita a casa sobre las percepciones de las madres acerca de su capacidad de respuesta a sus niños. Este estudio es parte de un mayor cuerpo investigativo conocido como right@home (justo en casa), un programa australiano de visita a casa por parte de enfermeras que promueve el aprendizaje y desarrollo de los niños. Los programas preventivos tales como right@home dan prioridad a grupos de población que experimentan adversidad socioeconómica y sicosocial. Ellos ofrecen oportunidades para promover el desarrollo de los niños por medio del mejoramiento de las habilidades de crianza y un incremento de la sensibilidad en la crianza. Se llevaron a cabo entrevistas semiestructuradas con 12 madres, lo cual aportó ideas sobre sus percepciones de la crianza con sensibilidad. Se extrajeron cuatro temas de la información usando análisis temáticos inductivos. Estos indicaron que se consideraban importantes (1) el cómo las madres percibían su preparación para la crianza, (2) el reconocimiento de las necesidades de la madre y del niño, (3) la respuesta a las necesidades de la madre y del niño, y (4) la motivación a criar con sensibilidad. Esta investigación subraya la importancia de intervenciones que se enfoquen en la relación progenitor-niño para aumentar las capacidades de crianza de la madre y promover una crianza con sensibilidad.

Le parentage réactif (aussi connu comme réactivité) est un échange dynamique et bidirectionnel entre la dyade parent-enfant, et lié au développement social et cognitive d'un enfant. Les interactions optimales demandent une sensibilité et une compréhension des signaux de l'enfant, la réactivité au besoin de l'enfant, et une modification du comportement du parent pour répondre à ce besoin. Cette étude qualitative a exploré l'impact d'un programme de visite à domicile sur les perceptions des mères de leur réactivité à leurs enfants. Cette étude fait partie de recherches plus étendues connues sous le nom de de right@home, un programme de visite infirmières à domicile australien promouvant l'apprentissage et le développement des enfants. Les programmes de prévention tels que right@home privilégient les groupes de population marqués par l'adversité socioéconomique et psychosociale. Ils offrent des opportunités de promouvoir le développement des enfants au travers du renforcement des capacités de parentage et une augmentation du parentage réactif. Des entretiens semi-structurés ont été faits avec 12 mères, offrant un aperçu de leurs perceptions du parentage réactif. Quatre thèmes ont été extraits des données en utilisant une analyse thématique inductive. Ces dernières ont indiqué que (1) la préparation perçue des mères pour le parentage, (2) la reconnaissance des besoins de la mère et de l'enfant, (3) la réponse aux besoins de la mère et de l'enfant, et (4) la motivation du parent avec la réaction ont toutes été considérées comme importantes. Ces recherches mettent en lumière l'importance d'interventions qui se concentrent sur la relation parent-enfant en augmentant les capacités de parentage des mères et en promouvant le parentage réactif.

'Nobody taught her how to be a mother': The lived experience of mothering without a mother.

Maternal grandmothers play a vital role in the transition to motherhood for their own daughters. The current study adds to this literature by investigating the lived experience of motherhood for women who lacked a meaningful relationship with their mothers. Ten mothers of children under 2 years of age participated in a semi-structured interview to explore their lived experiences of being a mother. Women were recruited from two parent-infant services in Northern Ireland. The interviews were analyzed using Interpretive Phenomenological Analysis (IPA). Three superordinate themes were identified: 'The Birth of a Mother', 'Mourning and Loss' and 'Ghosts in the Nursery'. The first theme captured the significant change of identity women experienced during their transition to motherhood. This identity change shed new light on their own experience of being mothered. The second theme captured the mourning and loss these women felt due to their relationship with their mother. Their lack of meaningful maternal relationships have left a hole impossible to fill. The final theme spoke to the intergenerational element of these mother's experience and their desire to break a cycle of maternal deprivation. The rich content from the interviews highlights the need for services to be aware of this struggle of motherhood.

Las abuelas maternas juegan un papel vital en la transición a la maternidad para sus propias hijas. El presente estudio contribuye a este campo de conocimientos escritos por medio de investigar la experiencia de maternidad vividas por mujeres a quienes les hace falta una significativa relación con sus madres. Diez madres de niños menores de dos años de edad participaron en una entrevista semiestructurada para explorar sus vividas experiencias de ser madre. A las mujeres se les reclutó de dos servicios progenitor-infante en Irlanda del Norte. Se analizaron las entrevistas usando el Análisis Fenomenológico Interpretativo (IPA). Se identificaron tres temas de nivel superior: 'El Nacimiento de una Madre,' 'Lamento y Pérdida' y 'Fantasmas en el Cuarto de la Niña.' El primer tema captó el significativo cambio de identidad que las mujeres experimentan durante su transición a la maternidad. El cambio de identidad arrojó una nueva luz en sus propias experiencias de ser criadas por una madre. El segundo tema captó la lamentación y la pérdida que estas mujeres sentían debido a su relación con sus madres. La falta de significativas relaciones maternas ha dejado un vacío imposible de llenar. El tema final tuvo que ver que el elemento intergeneracional de la experiencia de estas madres y su deseo de romper un ciclo de privación materna. El rico contenido de las entrevistas enfatiza la necesidad de servicios para estar conscientes de esta lucha sobre la maternidad.

Les grands-mères maternelles jouent un rôle vital dans la transition à la maternité de leurs propres filles. Cette étude s'ajoute aux recherches précédentes en enquêtant sur l'expérience vécue de la maternité pour les femmes n'ayant pas eu une relation importante avec leurs mères. Dix mères d'enfant de moins de deux ans ont participé à un entretien semi structuré afin d'explorer leurs expériences vécues du fait d'être maman. Ces femmes ont été recrutées dans deux services parent-bébé en Irlande du Nord. Ces entretiens ont été analysés en utilisant l'Analyse Interprétive Phénoménologique (en anglais Interpretive Phenomenological Analysis, soit IPA). Trois thèmes supérieurs ont été identifiés: 'La Naissance d'une Mère', "Deuil et Perte' et 'Fantômes dans la Chambre d'enfant'. Le premier thème a capture le changement d'identité important que les femmes ont vécu durant leurs transitions à la maternité. Ce changement d'identité a apporté un éclairage nouveau sur leur propre expérience d'avoir été maternées. Le second thème a capturé le deuil et la perte que ces femmes ont ressentis du fait de leur lien à leur mère. Leur manque de relations maternelles importantes a laissé un trou impossible à remplir. Le dernier thème fait référence à l'élément intergénérationnel de l'expérience de ces mères et leur désir de casser un cycle de privation maternelle. Ce contenu riche émanant des entretiens met en lumière la prise de connaissance nécessaire de ces difficultés de la maternité dont doivent faire preuve les services.