Enjeux éthiques du dépistage prénatal non invasif de la trisomie 21. Évolution du dépistage anténatal, de son information et de sesconséquences sociales

Le dépistage de la trisomie 21 connaît actuellement de grandes modifications avec l'apparition du dépistage non invasif sur sang maternel (DPNI). Ce travail présente la technique du DPNI puis cherche à définir les questions éthiques que pose l'apparition de cette technique par une recherche bibliographique et la réalisation d'entretiens auprès depraticiens en lien avec le DPNI. L' avantage majeur sur le plan éthique de cette technique et la forte diminution des faussescouches iatrogènes induites par les prélèvements invasifs, nécessaires au diagnostic de la trisomie 21. Des questions se posent néanmoins sur le risque de dérive eugénique que peut présenter cette nouvelle technique plus simple, rapide et performante. Afin de limiter ce risque face à l'amélioration et la généralisation de ce dépistage il semble alors nécessaire de travailler autour de deux axes : la qualité de l'information fournie au patientes, et la qualité de l'accueil fournie aux enfants porteurs de trisomie 21 qui continuent de naître – par défaut de dépistage ou par choix parental

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

International audienceGenetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies (related to the Y chromosome or to the autosomes) are validated genetic factors leading to spermatogenic quantitative defects with a frequency depending on the severity of the phenotype. The most frequent structural chromosomal rearrangements of autosomes are translocations and inversions, whereas dicentric chromosomes involving autosomes are rare. We report a man bearing a pseudodicentric chromosome (9;21) and presenting with oligozoospermia. Extensive cytogenetic analyses were necessary to determine the precise nature of the derivative chromosome and to discount the presence of interstitial telomeric sequences. Defects in spermatogenesis and abnormal segregation at meiosis for existing spermatozoa are proposed and are the likely cause of the reproductive phenotype of the patient

Presentation and evaluation of the IPSL‐CM6A‐LR climate model

International audienceThis study presents the global climate model IPSL-CM6A-LR developed at Institut Pierre-Simon Laplace (IPSL) to study natural climate variability and climate response to natural and anthropogenic forcings as part of the sixth phase of the Coupled Model Intercomparison Project (CMIP6). This article describes the different model components, their coupling, and the simulated climate in comparison to previous model versions. We focus here on the representation of the physical climate along with the main characteristics of the global carbon cycle. The model's climatology, as assessed from a range of metrics (related in particular to radiation, temperature, precipitation, and wind), is strongly improved in comparison to previous model versions. Although they are reduced, a number of known biases and shortcomings (e.g., double Intertropical Convergence Zone [ITCZ], frequency of midlatitude wintertime blockings, and El Niño–Southern Oscillation [ENSO] dynamics) persist. The equilibrium climate sensitivity and transient climate response have both increased from the previous climate model IPSL-CM5A-LR used in CMIP5. A large ensemble of more than 30 members for the historical period (1850–2018) and a smaller ensemble for a range of emissions scenarios (until 2100 and 2300) are also presented and discussed

Presentation and evaluation of the IPSL‐CM6A‐LR climate model

International audienceThis study presents the global climate model IPSL-CM6A-LR developed at Institut Pierre-Simon Laplace (IPSL) to study natural climate variability and climate response to natural and anthropogenic forcings as part of the sixth phase of the Coupled Model Intercomparison Project (CMIP6). This article describes the different model components, their coupling, and the simulated climate in comparison to previous model versions. We focus here on the representation of the physical climate along with the main characteristics of the global carbon cycle. The model's climatology, as assessed from a range of metrics (related in particular to radiation, temperature, precipitation, and wind), is strongly improved in comparison to previous model versions. Although they are reduced, a number of known biases and shortcomings (e.g., double Intertropical Convergence Zone [ITCZ], frequency of midlatitude wintertime blockings, and El Niño–Southern Oscillation [ENSO] dynamics) persist. The equilibrium climate sensitivity and transient climate response have both increased from the previous climate model IPSL-CM5A-LR used in CMIP5. A large ensemble of more than 30 members for the historical period (1850–2018) and a smaller ensemble for a range of emissions scenarios (until 2100 and 2300) are also presented and discussed

Presentation and evaluation of the IPSL‐CM6A‐LR climate model

International audienceThis study presents the global climate model IPSL-CM6A-LR developed at Institut Pierre-Simon Laplace (IPSL) to study natural climate variability and climate response to natural and anthropogenic forcings as part of the sixth phase of the Coupled Model Intercomparison Project (CMIP6). This article describes the different model components, their coupling, and the simulated climate in comparison to previous model versions. We focus here on the representation of the physical climate along with the main characteristics of the global carbon cycle. The model's climatology, as assessed from a range of metrics (related in particular to radiation, temperature, precipitation, and wind), is strongly improved in comparison to previous model versions. Although they are reduced, a number of known biases and shortcomings (e.g., double Intertropical Convergence Zone [ITCZ], frequency of midlatitude wintertime blockings, and El Niño–Southern Oscillation [ENSO] dynamics) persist. The equilibrium climate sensitivity and transient climate response have both increased from the previous climate model IPSL-CM5A-LR used in CMIP5. A large ensemble of more than 30 members for the historical period (1850–2018) and a smaller ensemble for a range of emissions scenarios (until 2100 and 2300) are also presented and discussed