Titre : Diagnostic préimplantatoire

Diagnostic préimplantatoire : Questions médicales fréquentes

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préimplantatoire", "description": "Qu'est-ce que le diagnostic préimplantatoire ?\nComment se déroule le diagnostic préimplantatoire ?\nQuels types de maladies peuvent être détectées ?\nQui peut bénéficier du diagnostic préimplantatoire ?\nQuelle est la précision du diagnostic préimplantatoire ?", "url": "https://questionsmedicales.fr/mesh/D019836?page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Diagnostic préimplantatoire", "description": "Quels symptômes indiquent un besoin de diagnostic préimplantatoire ?\nLes symptômes de maladies génétiques sont-ils visibles ?\nComment les maladies génétiques se manifestent-elles ?\nLes symptômes sont-ils identiques chez tous les patients ?\nPeut-on prédire les symptômes futurs d'un enfant ?", "url": "https://questionsmedicales.fr/mesh/D019836?page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Diagnostic préimplantatoire", "description": "Comment prévenir les maladies génétiques ?\nLe mode de vie influence-t-il les maladies génétiques ?\nLes tests génétiques sont-ils recommandés avant la grossesse ?\nLes vaccinations peuvent-elles prévenir des maladies génétiques ?\nLe suivi médical est-il important pour la prévention ?", "url": "https://questionsmedicales.fr/mesh/D019836?page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Diagnostic préimplantatoire", "description": "Quel traitement suit le diagnostic préimplantatoire ?\nLe diagnostic préimplantatoire remplace-t-il d'autres traitements ?\nY a-t-il des traitements associés au diagnostic ?\nQuels sont les risques des traitements associés ?\nLe diagnostic préimplantatoire est-il remboursé ?", "url": "https://questionsmedicales.fr/mesh/D019836?page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Diagnostic préimplantatoire", "description": "Quelles complications peuvent survenir lors du diagnostic ?\nLe diagnostic préimplantatoire peut-il échouer ?\nLes complications affectent-elles la grossesse ?\nY a-t-il des risques psychologiques associés ?\nComment gérer les complications éventuelles ?", "url": "https://questionsmedicales.fr/mesh/D019836?page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Diagnostic préimplantatoire", "description": "Quels sont les facteurs de risque pour les maladies génétiques ?\nL'environnement influence-t-il les maladies génétiques ?\nLes maladies génétiques sont-elles plus fréquentes chez certaines ethnies ?\nLe mode de vie peut-il réduire les risques ?\nLes tests de dépistage sont-ils utiles pour évaluer les risques ?", "url": "https://questionsmedicales.fr/mesh/D019836?page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Qu'est-ce que le diagnostic préimplantatoire ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "C'est une méthode pour analyser les embryons avant leur implantation afin de détecter des anomalies génétiques." } }, { "@type": "Question", "name": "Comment se déroule le diagnostic préimplantatoire ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Il implique la biopsie d'un embryon suivi d'analyses génétiques pour identifier des maladies héréditaires." } }, { "@type": "Question", "name": "Quels types de maladies peuvent être détectées ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "On peut détecter des maladies monogéniques, des anomalies chromosomiques et des troubles héréditaires." } }, { "@type": "Question", "name": "Qui peut bénéficier du diagnostic préimplantatoire ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Les couples à risque de transmettre des maladies génétiques ou ayant des antécédents de fausses couches." } }, { "@type": "Question", "name": "Quelle est la précision du diagnostic préimplantatoire ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "La précision est élevée, mais il existe un risque de faux positifs ou négatifs dans certains cas." } }, { "@type": "Question", "name": "Quels symptômes indiquent un besoin de diagnostic préimplantatoire ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Des antécédents familiaux de maladies génétiques ou des échecs répétés de grossesse peuvent alerter." } }, { "@type": "Question", "name": "Les symptômes de maladies génétiques sont-ils visibles ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Pas toujours, certaines maladies peuvent ne pas se manifester avant plusieurs années." } }, { "@type": "Question", "name": "Comment les maladies génétiques se manifestent-elles ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent se manifester par des troubles physiques, cognitifs ou des malformations congénitales." } }, { "@type": "Question", "name": "Les symptômes sont-ils identiques chez tous les patients ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Non, les symptômes varient selon la maladie et la génétique individuelle de chaque patient." } }, { "@type": "Question", "name": "Peut-on prédire les symptômes futurs d'un enfant ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic préimplantatoire peut aider à prédire certains risques, mais pas tous." } }, { "@type": "Question", "name": "Comment prévenir les maladies génétiques ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Le conseil génétique et le diagnostic préimplantatoire sont des outils clés pour la prévention." } }, { "@type": "Question", "name": "Le mode de vie influence-t-il les maladies génétiques ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Le mode de vie n'influence pas les maladies génétiques, mais peut affecter la santé globale." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils recommandés avant la grossesse ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests peuvent aider à identifier les risques génétiques avant de concevoir." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir des maladies génétiques ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Non, les vaccinations ne préviennent pas les maladies génétiques, mais elles protègent contre les infections." } }, { "@type": "Question", "name": "Le suivi médical est-il important pour la prévention ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi médical régulier aide à identifier les risques et à prendre des mesures préventives." } }, { "@type": "Question", "name": "Quel traitement suit le diagnostic préimplantatoire ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les embryons sains sont sélectionnés pour implantation lors d'une fécondation in vitro." } }, { "@type": "Question", "name": "Le diagnostic préimplantatoire remplace-t-il d'autres traitements ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Non, il est complémentaire à d'autres traitements de fertilité et ne les remplace pas." } }, { "@type": "Question", "name": "Y a-t-il des traitements associés au diagnostic ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des traitements hormonaux peuvent être nécessaires pour préparer l'utérus à l'implantation." } }, { "@type": "Question", "name": "Quels sont les risques des traitements associés ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les risques incluent des effets secondaires des médicaments et des complications lors de la biopsie." } }, { "@type": "Question", "name": "Le diagnostic préimplantatoire est-il remboursé ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Le remboursement dépend des pays et des politiques de santé, souvent partiel ou conditionnel." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir lors du diagnostic ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications peuvent inclure des saignements, des infections ou des dommages embryonnaires." } }, { "@type": "Question", "name": "Le diagnostic préimplantatoire peut-il échouer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il existe un risque d'échec dans la détection des anomalies ou d'implantation." } }, { "@type": "Question", "name": "Les complications affectent-elles la grossesse ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent affecter la grossesse, mais beaucoup de femmes ont des grossesses saines." } }, { "@type": "Question", "name": "Y a-t-il des risques psychologiques associés ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le stress et l'anxiété liés aux résultats peuvent affecter le bien-être psychologique des couples." } }, { "@type": "Question", "name": "Comment gérer les complications éventuelles ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Un suivi médical et un soutien psychologique sont essentiels pour gérer les complications." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour les maladies génétiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux, l'âge avancé des parents et certaines ethnies augmentent les risques." } }, { "@type": "Question", "name": "L'environnement influence-t-il les maladies génétiques ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "L'environnement a peu d'impact sur les maladies génétiques, qui sont principalement héréditaires." } }, { "@type": "Question", "name": "Les maladies génétiques sont-elles plus fréquentes chez certaines ethnies ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines ethnies ont des prédispositions à des maladies génétiques spécifiques." } }, { "@type": "Question", "name": "Le mode de vie peut-il réduire les risques ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Un mode de vie sain peut améliorer la santé générale, mais ne réduit pas les risques génétiques." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils utiles pour évaluer les risques ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests de dépistage génétique aident à évaluer les risques de transmission de maladies." } } ] } ] }

Sources (10000 au total)

Preimplantation genetic testing for hereditary hearing loss in Chinese population.

To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.... A PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleotide polymorphisms (SNPs) linkage analyses with a single low-depth next-generation sequenc... Fifty-four in vitro fertilization (IVF) cycles were implemented, 340 blastocysts were cultured, and 303 (89.1%) of these received a definite diagnosis of a disease-causing variant testing, linkage ana... In both the HL population and in hearing individuals at risk of giving birth to offspring with HL in China, there is a practical need for PGT. The whole genome amplification combined with NGS can simp...

Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts.

This study aimed to investigate the spectrum and characteristics of segmental aneuploidies (SAs) of <10 megabase (Mb) length in human preimplantation blastocysts.... Preimplantation genetic testing for aneuploidy was performed in 15,411 blastocysts from 5171 patients using a validated 1 Mb resolution platform. The characteristics and spectrum of SAs, including the... In total, 6.4% of the 15,411 blastocysts carried SAs of >10 Mb, 4.9% of embryos had SAs ranging between 1 to 10 Mb, and 84.3% of 1 to 10 Mb SAs were <5 Mb in size. Inheritance pattern analysis indicat... Based on the established platform, 1 to 10 Mb SAs are common in blastocysts and include a subset of P/LP SAs. Inheritance pattern analysis and clinical interpretation based on the American College of ...

Non-invasive preimplantation genetic testing for conventional IVF blastocysts.

Previous studies suggested that non-invasive preimplantation genetic testing (niPGT) for intracytoplasmic sperm injection (ICSI) blastocysts can be used to identify chromosomal ploidy and chromosomal ... This was a prospective observational study. In the preclinical stage, whole genome amplification and NGS were performed using the sperm spent culture medium (SCM). Then, trophectoderm (TE) biopsies an... Preclinically, we confirmed failed sperm DNA amplification under the current amplification system. Subsequent niPGT from the 27 monopronuclear blastocysts showed 69.2% concordance with PGT results of ... Our research results preliminarily confirm that the niPGT approach using SCM from conventional IVF has comparable performance with ICSI and might broadening the application scope of niPGT....

Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report.

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and morbidity, characterised by the formation of heterotopic hard tissues within... A 30-year-old Caucasian female with FOP presented with her partner seeking IVF with PGT-M to achieve a healthy pregnancy with an embryo unaffected by FOP.... The couple underwent IVF and PGT-M using Karyomapping as the testing method. A multi-disciplinary team approach was utilised in planning this case, considering the additional risks of oocyte retrieval... The oocyte retrieval was covered with a 5-day course of prednisolone to reduce the risk of a localised inflammatory reaction, which could result in subsequent heterotopic ossification. This was subseq... IVF/ICSI and PGT-M using Karyomapping was successfully implemented to identify embryos carrying the high-risk FOP allele resulting in a healthy livebirth....

Noninvasive preimplantation genetic testing using the embryo spent culture medium: an update.

The presence of cell-free DNA (cf-DNA) in the embryo spent culture medium allows to develop a noninvasive PGT-A (niPGTA). Noninvasive PGT-A may provide a simpler, safer and less costly approach to pre... The most recent concordance studies evaluating the accuracy of niPGTA using SCM showed a high variation in the informativity rate of SCM and the diagnostic concordance. Also, sensitivity and specifici... Further research, including randomized and nonselection studies, as well as optimization of embryo culture conditions and medium retrieval, are needed to improve the reliability and clinical utility o...

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders.

Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies,... The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genot... The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to t... EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos....