Titre : Aberrations des chromosomes

Aberrations des chromosomes : Questions médicales fréquentes

Termes MeSH sélectionnés :

Polyhydramnios

Questions fréquentes et termes MeSH associés

Diagnostic 5

#1

Comment diagnostique-t-on une aberration chromosomique ?

Le diagnostic se fait par analyse cytogénétique, comme le caryotype.
Caryotype Analyse cytogénétique
#2

Quels tests sont utilisés pour détecter les aberrations chromosomiques ?

Les tests incluent le caryotype, l'hybridation in situ et le séquençage génétique.
Hybridation in situ Séquençage génétique
#3

Les échographies peuvent-elles détecter des anomalies chromosomiques ?

Oui, certaines anomalies peuvent être suspectées par échographie prénatale.
Échographie prénatale Anomalies congénitales
#4

Quel rôle joue le conseil génétique dans le diagnostic ?

Le conseil génétique aide à évaluer le risque et à interpréter les résultats des tests.
Conseil génétique Tests génétiques
#5

Les tests sanguins peuvent-ils révéler des aberrations chromosomiques ?

Oui, des tests sanguins peuvent détecter des anomalies chromosomiques spécifiques.
Tests sanguins Anomalies chromosomiques

Symptômes 5

#1

Quels sont les symptômes des aberrations chromosomiques ?

Les symptômes varient, incluant des malformations congénitales et des retards de développement.
Malformations congénitales Retard de développement
#2

Les aberrations chromosomiques causent-elles des troubles mentaux ?

Oui, certaines aberrations peuvent être associées à des troubles du développement intellectuel.
Troubles mentaux Développement intellectuel
#3

Peut-on avoir des symptômes sans aberration chromosomique visible ?

Oui, certaines anomalies peuvent ne pas être visibles mais entraîner des symptômes.
Anomalies chromosomiques Symptômes
#4

Les symptômes varient-ils selon le type d'aberration ?

Oui, les symptômes dépendent du type d'aberration et des gènes affectés.
Types d'aberrations Gènes
#5

Les anomalies chromosomiques peuvent-elles affecter la fertilité ?

Oui, certaines aberrations peuvent entraîner des problèmes de fertilité ou des fausses couches.
Fertilité Fausses couches

Prévention 5

#1

Peut-on prévenir les aberrations chromosomiques ?

Certaines aberrations ne peuvent pas être prévenues, mais le conseil génétique aide à évaluer les risques.
Prévention Conseil génétique
#2

Le dépistage prénatal peut-il réduire les risques ?

Oui, le dépistage prénatal permet d'identifier les risques d'anomalies chromosomiques.
Dépistage prénatal Anomalies chromosomiques
#3

Les habitudes de vie influencent-elles les aberrations chromosomiques ?

Certaines habitudes, comme l'alcool et le tabac, peuvent augmenter le risque d'anomalies.
Habitudes de vie Risque
#4

Les vaccinations peuvent-elles prévenir des anomalies ?

Certaines vaccinations peuvent prévenir des infections qui pourraient causer des anomalies.
Vaccinations Infections
#5

Le suivi médical avant la grossesse est-il important ?

Oui, un suivi médical peut aider à identifier et gérer les risques avant la grossesse.
Suivi médical Grossesse

Traitements 5

#1

Quels traitements existent pour les aberrations chromosomiques ?

Le traitement dépend des symptômes, incluant thérapies, chirurgie ou soutien éducatif.
Thérapies Chirurgie
#2

La thérapie génique est-elle une option pour ces anomalies ?

La thérapie génique est en recherche, mais pas encore largement disponible pour ces anomalies.
Thérapie génique Recherche
#3

Les médicaments peuvent-ils aider à gérer les symptômes ?

Oui, des médicaments peuvent être prescrits pour gérer certains symptômes associés.
Médicaments Gestion des symptômes
#4

Le suivi médical est-il important pour ces patients ?

Oui, un suivi régulier est crucial pour surveiller les complications et ajuster les traitements.
Suivi médical Complications
#5

Les interventions précoces sont-elles bénéfiques ?

Oui, les interventions précoces peuvent améliorer le développement et la qualité de vie.
Interventions précoces Qualité de vie

Complications 5

#1

Quelles complications peuvent survenir avec des aberrations chromosomiques ?

Les complications incluent des malformations, des troubles de la croissance et des problèmes de santé.
Complications Malformations
#2

Les aberrations chromosomiques augmentent-elles le risque de cancer ?

Oui, certaines aberrations chromosomiques sont associées à un risque accru de cancer.
Cancer Risque
#3

Les problèmes cardiaques sont-ils fréquents avec ces anomalies ?

Oui, certaines aberrations chromosomiques peuvent entraîner des malformations cardiaques.
Problèmes cardiaques Malformations cardiaques
#4

Les troubles du comportement sont-ils liés aux aberrations chromosomiques ?

Oui, des troubles du comportement peuvent être associés à certaines anomalies chromosomiques.
Troubles du comportement Anomalies chromosomiques
#5

Les complications peuvent-elles affecter la qualité de vie ?

Oui, les complications peuvent significativement impacter la qualité de vie des patients.
Qualité de vie Complications

Facteurs de risque 5

#1

Quels sont les facteurs de risque d'aberrations chromosomiques ?

Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et des expositions environnementales.
Facteurs de risque Âge maternel
#2

L'exposition à des substances toxiques augmente-t-elle le risque ?

Oui, l'exposition à des substances toxiques peut augmenter le risque d'anomalies chromosomiques.
Substances toxiques Risque
#3

Les antécédents familiaux jouent-ils un rôle ?

Oui, des antécédents familiaux d'anomalies chromosomiques augmentent le risque.
Antécédents familiaux Anomalies chromosomiques
#4

Le stress peut-il influencer le risque d'anomalies ?

Certaines études suggèrent que le stress peut avoir un impact sur le risque d'anomalies chromosomiques.
Stress Risque
#5

Les infections pendant la grossesse sont-elles un facteur de risque ?

Oui, certaines infections pendant la grossesse peuvent augmenter le risque d'anomalies chromosomiques.
Infections Grossesse
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{ "@type": "Question", "name": "Les habitudes de vie influencent-elles les aberrations chromosomiques ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Certaines habitudes, comme l'alcool et le tabac, peuvent augmenter le risque d'anomalies." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir des anomalies ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations peuvent prévenir des infections qui pourraient causer des anomalies." } }, { "@type": "Question", "name": "Le suivi médical avant la grossesse est-il important ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi médical peut aider à identifier et gérer les risques avant la grossesse." } }, { "@type": "Question", "name": "Quels traitements existent pour les aberrations chromosomiques ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement dépend des symptômes, incluant thérapies, chirurgie ou soutien éducatif." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option pour ces anomalies ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais pas encore largement disponible pour ces anomalies." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider à gérer les symptômes ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des médicaments peuvent être prescrits pour gérer certains symptômes associés." } }, { "@type": "Question", "name": "Le suivi médical est-il important pour ces patients ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller les complications et ajuster les traitements." } }, { "@type": "Question", "name": "Les interventions précoces sont-elles bénéfiques ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les interventions précoces peuvent améliorer le développement et la qualité de vie." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec des aberrations chromosomiques ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des malformations, des troubles de la croissance et des problèmes de santé." } }, { "@type": "Question", "name": "Les aberrations chromosomiques augmentent-elles le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines aberrations chromosomiques sont associées à un risque accru de cancer." } }, { "@type": "Question", "name": "Les problèmes cardiaques sont-ils fréquents avec ces anomalies ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines aberrations chromosomiques peuvent entraîner des malformations cardiaques." } }, { "@type": "Question", "name": "Les troubles du comportement sont-ils liés aux aberrations chromosomiques ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles du comportement peuvent être associés à certaines anomalies chromosomiques." } }, { "@type": "Question", "name": "Les complications peuvent-elles affecter la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque d'aberrations chromosomiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et des expositions environnementales." } }, { "@type": "Question", "name": "L'exposition à des substances toxiques augmente-t-elle le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des substances toxiques peut augmenter le risque d'anomalies chromosomiques." } }, { "@type": "Question", "name": "Les antécédents familiaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux d'anomalies chromosomiques augmentent le risque." } }, { "@type": "Question", "name": "Le stress peut-il influencer le risque d'anomalies ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certaines études suggèrent que le stress peut avoir un impact sur le risque d'anomalies chromosomiques." } }, { "@type": "Question", "name": "Les infections pendant la grossesse sont-elles un facteur de risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines infections pendant la grossesse peuvent augmenter le risque d'anomalies chromosomiques." } } ] } ] }
Dr Olivier Menir

Contenu validé par Dr Olivier Menir

Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale


Validation scientifique effectuée le 05/05/2025

Contenu vérifié selon les dernières recommandations médicales

Auteurs principaux

Kari Hemminki

4 publications dans cette catégorie

Affiliations :
  • Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
  • Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), 69120 Heidelberg, Germany.

Yasmeen Niazi

4 publications dans cette catégorie

Affiliations :
  • Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
  • Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.

Ludmila Vodickova

4 publications dans cette catégorie

Affiliations :
  • Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
  • Department of Molecular Biology of Cancer, Institute of Experimental Medicine, of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.
  • Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic.

Pavel Vodicka

4 publications dans cette catégorie

Affiliations :
  • Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
  • Department of Molecular Biology of Cancer, Institute of Experimental Medicine, of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.
  • Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic.

Asta Försti

4 publications dans cette catégorie

Affiliations :
  • Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
  • Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.

Jiamin Wang

3 publications dans cette catégorie

Affiliations :
  • Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :

Zhu Zhang

3 publications dans cette catégorie

Affiliations :
  • Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :

Shanling Liu

3 publications dans cette catégorie

Affiliations :
  • Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :

He Wang

3 publications dans cette catégorie

Affiliations :
  • Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :

Ting Hu

3 publications dans cette catégorie

Affiliations :
  • Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China. huting4123@163.com.
  • Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. huting4123@163.com.
Publications dans "Aberrations des chromosomes" :

Ianik Plante

3 publications dans cette catégorie

Affiliations :
  • KBR, Houston, TX 77058, USA.
  • NASA Johnson Space Center, Houston, TX 77058, USA.

Hauke Thomsen

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • GeneWerk GmbH, Heidelberg, Germany.

Bozena Smolkova

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Oncology, Cancer Research Institute, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.

Michal Kroupa

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czechia.
  • Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Prague, Czecia.

Veronika Vymetalkova

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czechia.
  • First Faculty of Medicine, Institute of Biology and Medical Genetics, Charles University, Prague, Czechia.
  • Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Prague, Czecia.

Alena Kazimirova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Magdalena Barancokova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Katarina Volkovova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Marta Staruchova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Per Hoffmann

3 publications dans cette catégorie

Affiliations :
  • Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Division of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland.

Sources (55 au total)

Isolated polyhydramnios in the third trimester or polyhydramnios secondary to late-onset gestational diabetes: is it worth distinguishing?

The aim of this study was to compare pregnancy outcomes of patients with polyhydramnios due to late-onset gestational diabetes mellitus and patients with isolated polyhydramnios.... Of the women who fully participated in prenatal examinations at Etlik Lady Zübeyde Hospital between January 1, 2018, and December 31, 2019, women with polyhydramnios of nonfetal-placental origin manif... There were a total of 295 participants, of whom 35 (11.8%) were diagnosed with polyhydramnios due to late-onset gestational diabetes mellitus. There were no differences in the main outcomes. Birthweig... Polyhydramnios in late pregnancy without evidence of pregnancy-related causes leading to polyhydramnios may be a sign of late-onset gestational diabetes mellitus in women with a normal prior oral gluc...

Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.

Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear.... We retrospectively analyzed 428 cases with an abnormal level of amniotic fluid, comprising of 139 cases of single ultrasound findings (SU group) and 289 cases of multiple ultrasound findings (MU group... The overall detection rate of clinically significant findings was 8%, with 5% in the SU group and 11% in MU group. Besides, 18 microdeletion/microduplication syndromes were detected, with the highest ... Our results showed that the abnormal level of amniotic fluid, especially combined with other ultrasound abnormalities, is closely related to chromosomal abnormalities and genetic CNVs. CNV-Seq may be ...

Discrimination of blood metabolomics profiles in neonates with idiopathic polyhydramnios.

This study aimed to compare the blood metabolic status of neonates with idiopathic polyhydramnios (IPH) and those with normal amniotic fluid, and to explore the relationship between IPH and fetal heal... This study is the first to investigate metabolomic profiles in newborns with IPH and examine the correlation between IPH and fetal health. Differential metabolites and pathways may affect amino acid s... • There is an increased risk of adverse pregnancy outcomes with IPH, such as perinatal death, neonatal asphyxia, neonatal intensive care admission, cesarean section rates, and postpartum hemorrhage. •... • In neonates with IPH, six differential metabolites were identified with significant differences and good AUC values using LC-MS/MS analysis: glutamic acid, serine, asparagine, aspartic acid, homocys...

Amnioreduction vs expectant management in pregnancies with moderate to severe polyhydramnios.

The rate of polyhydramnios is higher in pregnancies complicated by congenital anomalies. These pregnancies have higher rates of peripartum complications. Amnioreduction is offered to relieve maternal ... This study aimed to report the rates of amnioreduction and its associated complications in pregnancies with moderate to severe polyhydramnios secondary to fetal anomalies. We also sought to determine ... This was a retrospective review of anomalous singleton pregnancies with moderate to severe polyhydramnios that were evaluated and delivered at a single center between 2013 and 2021. Peripartum outcome... A total of 218 singleton pregnancies met the inclusion criteria of moderate to severe polyhydramnios in the study period. Of those, 110 patients (50.5%) underwent amnioreduction and 108 patients (49.5... Amnioreduction in the setting of moderate-severe polyhydramnios has a reasonably low rate of complications but does not provide any benefits in terms of prolonging the pregnancy. The procedure may inc...

Idiopathic polyhydramnios and pregnancy outcome: systematic review and meta-analysis.

To analyze outcomes of singleton pregnancies with idiopathic polyhydramnios through a systematic review and meta-analysis.... Electronic databases, including MEDLINE, OVID, EBSCO, Cochrane collection and Science Citation Index, were searched from 1946 to 2019. Gray literature and tables of contents of relevant journals were ... Twelve studies met the inclusion criteria, giving a total of 2392 patients with idiopathic polyhydramnios and 160 135 patients with normal amniotic fluid volume. Pregnancies complicated by idiopathic ... This study suggests that pregnancies complicated by idiopathic polyhydramnios are at increased risk of adverse outcome. Future investigations should aim to determine an amniotic fluid volume threshold...

Foetal cerebral blood redistribution in idiopathic polyhydramnios and the impact on perinatal outcomes.

Idiopathic polyhydramnios is associated with adverse neonatal outcome. The aim of this study was to examine the value of the middle cerebral artery pulsatility index (MCA-PI) in predicting adverse per... A retrospective study was performed during 2013-2022 at a tertiary-care university affiliated hospital. The study included singleton pregnancies with idiopathic polyhydramnios. Obstetrical and perinat... Among 45,459 pregnancies, 128 (0.3%) had idiopathic polyhydramnios; 27 exhibited MCA-PI <10th percentile. Among the latter, compared to pregnancies with MCA-PI ≥10th percentile group, the rates were h... Idiopathic polyhydramnios might be associated with foetal cerebral blood flow redistribution, potentially contributing to an increased risk of adverse neonatal outcomes. Prospective studies are requir...

Fetal pharyngeal glial heterotopia manifested as polyhydramnios: a rare case with difficult prenatal diagnosis.

Glial heterotopia is a rare congenital developmental malformation that presents as tumor-like lesions of the nerve tissue that grow outside the nervous system, but are not true tumors. At present, mos... A 32-year-old pregnant woman was admitted to the hospital with polyhydramnios. An ultrasound examination revealed a hypoechoic mass in the neck of the fetus. Magnetic resonance imaging showed a well-d... Polyhydramnios due to pharyngeal glial heterotopia is extremely rare and accurate prenatal diagnosis is challenging. Clinical diagnosis of glial heterotopia in preterm fetuses is difficult. Therefore,...

Comparing pregnancy, childbirth, and neonatal outcomes in women with idiopathic polyhydramnios: a prospective cohort study.

In this prospective cohort study, the perinatal outcome in idiopathic polyhydramnios compared with normal pregnancies was examined.... This was a prospective cohort study of 180 singleton pregnancies who received care at the referral gynecology clinic of Yasuj, Iran between 2018-2020. The inclusion criteria comprised singleton pregna... Postpartum hemorrhage (7.8% vs. 2.2; OR: 1.60; 95% CI 1.09-2.34) and cesarean delivery (51.11% vs. 21.11; OR: 1.88; 95% CI 1.42-2.50) and respiratory distress (4.4 v vs. 0; OR: 2.04; 95 C CI 1.75-2.80... In conclusion, the results of the current study, suggest that idiopathic polyhydramnios may be associated with a higher rate of postpartum hemorrhage, cesarean delivery, and respiratory distress than ...

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis and pregnancy outcomes of fetuses with polyhydramnios.

To explore the prenatal clinical utility of chromosome microarray analysis (CMA) for polyhydramnios and evaluate the short and long-term prognosis of fetuses with polyhydramnios.... A total of 600 singleton pregnancies with persistent polyhydramnios from 2014 to 2020 were retrospectively enrolled in this study. All cases received amniocentesis and were subjected to CMA results. A... The detection rates of either aneuploidy or pathogenic copy number variants in fetuses with non-isolated polyhydramnios were significantly higher than those with isolated polyhydramnios (5.0... For low-risk pregnancies, invasive prenatal diagnosis of isolated polyhydramnios might be unnecessary. CMA should be considered for fetuses with structural anomalies. In CMA-negative cases, the progno...