Comment diagnostiquer une translocation génétique ?
Le diagnostic se fait par analyse cytogénétique, comme le caryotype ou la FISH.
CytogénétiqueCaryotype
#2
Quels tests sont utilisés pour détecter des translocations ?
Les tests incluent l'analyse de l'ADN, la PCR et l'hybridation in situ.
Analyse de l'ADNHybridation in situ
#3
Les translocations sont-elles visibles sur un caryotype ?
Oui, certaines translocations peuvent être identifiées sur un caryotype standard.
CaryotypeTranslocation
#4
Quel rôle joue la biopsie dans le diagnostic ?
La biopsie permet d'analyser les cellules et de détecter des anomalies chromosomiques.
BiopsieAnomalies chromosomiques
#5
Les tests génétiques sont-ils recommandés ?
Oui, les tests génétiques sont recommandés pour les antécédents familiaux de maladies.
Tests génétiquesAntécédents familiaux
Symptômes
5
#1
Quels symptômes peuvent indiquer une translocation ?
Les symptômes varient, mais peuvent inclure des anomalies de développement ou des cancers.
Anomalies de développementCancers
#2
Les translocations causent-elles des symptômes immédiats ?
Pas toujours, certains symptômes peuvent apparaître des années après la translocation.
SymptômesTranslocation
#3
Y a-t-il des signes cliniques spécifiques ?
Des signes cliniques spécifiques dépendent du type de translocation et des gènes impliqués.
Signes cliniquesGènes
#4
Les symptômes sont-ils similaires à d'autres maladies ?
Oui, les symptômes peuvent être similaires à d'autres maladies génétiques ou cancers.
Maladies génétiquesCancers
#5
Comment les translocations affectent-elles la santé ?
Elles peuvent perturber l'expression des gènes, entraînant des maladies ou des cancers.
Expression des gènesMaladies
Prévention
5
#1
Peut-on prévenir les translocations génétiques ?
Il n'existe pas de méthode garantie pour prévenir les translocations, mais des conseils génétiques aident.
PréventionConseils génétiques
#2
Le dépistage prénatal est-il utile ?
Oui, le dépistage prénatal peut identifier des anomalies chromosomiques chez le fœtus.
Dépistage prénatalAnomalies chromosomiques
#3
Quels facteurs environnementaux influencent les translocations ?
L'exposition à des agents cancérigènes peut augmenter le risque de translocations.
Agents cancérigènesFacteurs environnementaux
#4
Les antécédents familiaux jouent-ils un rôle ?
Oui, des antécédents familiaux de maladies génétiques peuvent augmenter le risque.
Antécédents familiauxMaladies génétiques
#5
Des conseils génétiques sont-ils recommandés ?
Oui, les conseils génétiques sont recommandés pour les familles à risque de translocations.
Conseils génétiquesRisque
Traitements
5
#1
Quels traitements sont disponibles pour les translocations ?
Les traitements incluent la chimiothérapie, la radiothérapie et les thérapies ciblées.
ChimiothérapieRadiothérapie
#2
La chirurgie est-elle une option de traitement ?
Oui, la chirurgie peut être nécessaire pour retirer des tumeurs causées par des translocations.
ChirurgieTumeurs
#3
Les thérapies géniques sont-elles efficaces ?
Les thérapies géniques sont en développement et peuvent offrir des options prometteuses.
Thérapies géniquesOptions de traitement
#4
Comment la surveillance est-elle effectuée après traitement ?
La surveillance inclut des examens réguliers et des tests génétiques pour détecter des récidives.
SurveillanceRécidives
#5
Les traitements sont-ils personnalisés ?
Oui, les traitements peuvent être personnalisés en fonction du type de translocation et du patient.
Traitements personnalisésTranslocation
Complications
5
#1
Quelles complications peuvent survenir avec des translocations ?
Les complications incluent des cancers, des troubles de développement et des maladies héréditaires.
CancersTroubles de développement
#2
Les translocations augmentent-elles le risque de cancer ?
Oui, certaines translocations sont associées à un risque accru de cancers spécifiques.
Risque de cancerTranslocation
#3
Comment les translocations affectent-elles la fertilité ?
Elles peuvent entraîner des problèmes de fertilité ou des fausses couches chez les porteurs.
FertilitéFausses couches
#4
Les complications sont-elles réversibles ?
Certaines complications peuvent être traitées, mais d'autres peuvent être permanentes.
ComplicationsTraitement
#5
Les enfants de porteurs sont-ils à risque ?
Oui, les enfants de porteurs de translocations peuvent avoir un risque accru de maladies.
RisqueEnfants
Facteurs de risque
5
#1
Quels sont les facteurs de risque de translocations ?
Les facteurs incluent l'exposition à des agents cancérigènes, l'âge avancé et des antécédents familiaux.
Facteurs de risqueAgents cancérigènes
#2
L'âge maternel influence-t-il les translocations ?
Oui, un âge maternel avancé est associé à un risque accru de translocations chromosomiques.
Âge maternelTranslocations chromosomiques
#3
Les radiations augmentent-elles le risque ?
Oui, l'exposition aux radiations ionisantes peut augmenter le risque de translocations.
Radiations ionisantesRisque
#4
Les maladies génétiques augmentent-elles le risque ?
Oui, certaines maladies génétiques peuvent être liées à un risque accru de translocations.
Maladies génétiquesRisque
#5
Le mode de vie influence-t-il les translocations ?
Oui, des facteurs comme le tabagisme et l'alimentation peuvent influencer le risque.
Mode de vieTabagisme
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"@type": "Answer",
"text": "Oui, des facteurs comme le tabagisme et l'alimentation peuvent influencer le risque."
}
}
]
}
]
}
National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China. Electronic address: linggf@hotmail.com.
Hunan Normal University School of Medicine, Changsha, People's Republic of China; National Engineering and Research Center of Human Stem Cell, Changsha, People's Republic of China.
Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, People's Republic of China; Laboratory of Reproductive and Stem Cell Engineering, Key Lab National Health and Family Planning Commission, Central South University, Changsha, People's Republic of China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha Hunan, China; Clinical Research Center For Reproduction and Genetics in Hunan Province, Changsha Hunan, China; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha Hunan, China; HC Key Laboratory of Human Stem Cell and Reproductive Engineering (Central South University), Changsha Hunan, China. Electronic address: tanyueqiu@csu.edu.cn.
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Department of Medicine, Harvard Medical School, Boston, MA 02215, USA.
Department of Data Science, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02215, USA; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Embryo transfer(ET) is one of the main procedures to become pregnant by assisted reproductive technology(ART). Simulation training is a way to improve the skills of clinicians. The objective of this s...
An observational study was conducted at the University hospital-based research center. Trainees, comprising midwives and resident or graduated gynecologists, who attended the medical training for infe...
Thirty-two trainees were included. Trainees felt that ET simulators should be used in medical education to promote learning how to perform the ET procedure (n=26, 81.3% for Simulator A and n=21, 65.5%...
Students expressed a high level of interest in ET simulators to improve their skills. Although the simulators displayed some differences regarding learning the precision of the ET procedure, both impr...
This study was approved for publication by the Ethics Review Committee of the Cochin University Hospital (CLEP) (n° AAA-2020-08016) retrospectively registered....
This study compared the pregnancy and neonatal outcomes between fresh embryo transfer and frozen-thawed embryo transfer (FET). These patients were split into two groups: the fresh embryo transfer grou...
Recurrent implantation failure (RIF) is more common among patients receiving assisted reproductive treatment. Many efforts have been made to increase the incidence of clinical pregnancy among patients...
In total, 1774 frozen-thawed embryo transfer (FET) cycles in RIF patients were included. Of these cycles, 302 were sequential embryo transfer (ET) cycles, 979 were double day 3 cleavage-stage ET cycle...
The implantation, hCG positive, and clinical pregnancy rates in the sequential ET group (32.1%, 58.9%, 50.7%) were significantly higher than those in the day 3 cleavage-stage ET group (24.9%, 46.5%, 4...
Sequential embryo transfer in FET cycles could improve the clinical outcomes of patients with RIF....
Embryo transfer (ET) is considered as a critical step in the process of in vitro fertilization. Interestingly, studies have consistently shown significant outcome differences between physicians. Altho...
The process of implantation is characterized by a complex cross-talk between the endometrium and the blastocyst, with the endometrium only being receptive to implantation during a transient window of ...
Physicians need an appropriate embryo transfer strategy to address the challenge of reducing multiple birth rates, while maintaining the couples' live birth rate during assisted reproductive technolog...
We included 10,060 frozen embryo transfer cycles from January 2015 to March 2020 in reproductive medical center of Ruijin hospital, Shanghai, China. Patients were grouped according to the number and g...
The transfer of double good-quality embryos was an independent predictor for multiple birth in women aged <30 years and those aged 36-39 years [<30 years: aOR =1.54 (95% CI: 1.14-2.06, P < 0.01); 36-3...
Single-good-quality blastocyst transfer is recommended for women of all ages. When good-quality cleavage embryos are available, the choice of single or double embryo transfer with good- or average-qua...
To investigate the effects of fresh embryo transfer and frozen-thawed embryo transfer on perinatal outcomes among patients with PCOS....
Patients who underwent in vitro fertilization and embryo transfer at the reproductive medicine center of the Affiliated Hospital of Guangdong Medical University from February 2013 to March 2021 were r...
The level of E2 on the HCG test day in the ET group was lower than that in the FET group. The natural birth rate of group D was lower than that of group A and group B, and the cesarean section rate wa...
Young PCOS patients without risk of OHSS have a high clinical pregnancy rate with fresh transplant cycles. PCOS disease itself has no significant effect on the perinatal outcomes of the mother or sing...
After an assisted reproductive technology (ART) cycle, embryo transfer (ET) involves the placement of one or more embryos into the uterine cavity, usually by passing a catheter through the cervical os...
To evaluate the benefits and harms of antibiotic administration prior to or at the time of embryo transfer (ET) during assisted reproductive technology (ART) cycles....
We searched the Cochrane Gynaecology and Fertility (CGF) Group trials register, CENTRAL (now containing output from two trial registers and CINAHL), MEDLINE, Embase and PsycINFO, together with referen...
We included two randomized controlled trials (RCT) that compared antibiotics administered by any route versus no antibiotics prior to ET....
We used standard methodological procedures recommended by Cochrane, including assessing risk of bias of the included studies using the RoB 2 tool. The primary review outcome was live birth rate (LBR) ...
We included two RCTs with 377 women in the review. Using the GRADE method, we assessed the certainty of the evidence as very low to low across measured outcomes. We are uncertain whether antibiotics g...
We are uncertain if administration of antibiotics prior to or at the time of ET improves LBR in women undergoing ART based on a single study of 27 women with low-certainty evidence. We are uncertain w...
This study aims to investigate the factors affecting the ectopic pregnancy (EP) rate in the frozen-thawed embryo transfer (FET) cycle....
This study retrospectively analyzed 5606 FET cycles, including 5496 cycles resulting in intrauterine pregnancy and 110 cycles resulting in EP. Smooth curve fitting and piece-wise linear regression wer...
After accounting for the confounding factors, the segmented linear regression analysis indicated that the EMT inflection point was 9 mm; the EP rate significantly decreased by 28% with each additional...
Undergoing EMT on the day of ET poses a separate EP risk in the FET cycle; to mitigate the EP incidence, the EMT should exceed 9 mm before ET. Furthermore, previous EPs and tubal factor infertility we...
To compare clinical outcomes following transfer of euploid blastocysts of varying quality biopsied on day 5 versus day 6....
Retrospective cohort study to evaluate embryo transfer outcomes for women undergoing autologous cryopreserved next generation sequencing euploid single embryo transfer from 10/2015 to 2/2022 at an aca...
Five hundred and fifty-five transfers from 418 patients were analyzed. Euploid embryos biopsied on day 5 resulted in higher LBR compared to those biopsied on day 6 (62.3% vs. 49.6%; aRR 0.81 95% CI 0....
Overall LBR are higher for euploid embryos biopsied on day 5 versus day 6. When stratified by embryo quality and day of biopsy, LBR are significantly higher for good quality day 5 versus day 6 embryos...
