ChromosomesNoninvasive prenatalTumorsEmbryosNIPTFetal aneuploidiesInclude aneuploidyAutosomal aneuploidyMitoticTrisomy 21AbnormalGenomicCopy number alterationsHumans22q11.2FetusesTumorigenesisPregnant womenAlterationsTP53BlastomereAbnormalitiesPregnanciesCancerSyndromeDetection20232016DiagnosisMaternalArisesChromosomallyMethodsCharacteristicDefectsMiscarriageBirthsHeterogeneousAnalysesCellsRiskTrisomiesChromosome is a commonCentrosomeAmniocentesisInvasiveLikelihoodLossTriploidCellularDependentToleranceConsequencesDeterminationGeneticMeiosis
Chromosomes16
- Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. (wikipedia.org)
- Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). (wikipedia.org)
- Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. (wikipedia.org)
- It was the first to be shown to alter oogenesis and lead to the formation of oocytes with an abnormal number of chromosomes (aneuploidy), in turn responsible for numerous miscarriages and fertility disorders. (cea.fr)
- Humans have 23 pairs of chromosomes, but genetic accidents can alter that number, a condition called aneuploidy. (livescience.com)
- Some aneuploidies cause disorders such as Down syndrome , which occurs when there are three chromosomes on what should be the 21st pair. (livescience.com)
- Extra or missing chromosomes are shockingly common, affecting up to 75 percent of all embryos, studies find. (livescience.com)
- Aneuploidy is known to confer cellular biology effects both dependent and independent of the particular chromosomes altered. (techscience.com)
- Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder . (wikidoc.org)
- Aneuploidy of sex chromosomes can also occur. (wikidoc.org)
- PGS screens for a number of common embryonic chromosomal disorders, including a condition called aneuploidy - where embryos have too few or too many chromosomes. (sdfertility.com)
- By using this strategy, the researchers believed they could detect higher-than normal amounts of DNA belonging to the three chromosomes involved in the most common aneuploidies - chromosomes 21, 18, and 13. (medgadget.com)
- Either too many or two few sex chromosomes (aneuploidy) are linked to common X/Y conditions including the misunderstood double Y chromosome situation which, contrary to common wisdom, does not translate to super masculinity. (westsidespirit.com)
- Furthermore, we delve into the significant role of the mitotic spindle, the complex that serves as the catalyst for moving chromosomes during anaphase, and observe the consequential fallout in case of anaphase errors, putting emphasis on common mishaps like non-disjunction which could potentially trigger chromosomal disorders including cancer and Down syndrome. (biologyideas.com)
- Similarly, errors can also result in cells with missing or extra chromosomes, a condition known as 'aneuploidy', and can cause severe abnormalities. (biologyideas.com)
- Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect. (msdmanuals.com)
Noninvasive prenatal8
- Three clinical guideline publications address use of cfDNA for screening prenatal fetal aneuploidy, also referred to as noninvasive prenatal screening (NIPS). (cdc.gov)
- hence the study was planned to assess the acceptability of non-invasive prenatal testing in Indian settings, to study about the awareness and baseline knowledge about Down's syndrome, to study the correlation between various indications of prenatal testing for aneuploidy and results of noninvasive prenatal testing. (ijrcog.org)
- Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. (ijrcog.org)
- Noninvasive prenatal testing, or NIPT - performs much worse when it looks for less common conditions. (cdc.gov)
- Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment. (cdc.gov)
- Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population. (cdc.gov)
- Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. (cdc.gov)
- Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System. (cdc.gov)
Tumors5
- Conclusion: DNA aneuploidy may be a key indicator for tumors activity and malignancy in SGTs, while the SPF has a minor role in the evaluation of SGTs activity. (researchgate.net)
- Esophageal cancer is one of the most common malignant tumors. (spandidos-publications.com)
- The TP53 gene mutation is the most common gene alteration in many tumors, including esophageal cancer. (spandidos-publications.com)
- Disruption of the centrosome is common in many solid tumors including lung cancer. (cdc.gov)
- Here, we provide clinical evidence that high expression of PLK1 could have detrimental effects in tumors with DNA aneuploidy, which may increase the risk of recurrence in gastric cancer patients. (elsevierpure.com)
Embryos3
- Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to embryos that cease developing because of it. (wikipedia.org)
- The result is a common abnormality known as aneuploidy, which occurs in as many as 80 percent of human embryos. (nprc.org)
- Because aneuploidy has been linked to a risk of in vitro fertilization failure, miscarriage and certain genetic orders or birth defects, mosaic embryos- those with both normal and abnormal cells-have not been considered ideal candidates for IVF transfer. (nprc.org)
NIPT2
- Women with a "no call" NIPT result should receive counseling and be offered ultrasound or diagnostic testing because their risk of aneuploidy is increased. (genomeweb.com)
- Testing options for pregnant women at increased risk of common aneuploidies are non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis (PND). (eur.nl)
Fetal aneuploidies1
- Massively parallel sequencing of maternal cell-free DNA (cfDNA testing) has been shown better at predicting fetal aneuploidies than standard screening in a new study among a general obstetric population. (contemporaryobgyn.net)
Include aneuploidy2
- Given that aneuploidy is (a) known to contribute to cell biology and (b) is present at some detectable level in many cell types, it is valuable for single-cell sequencing studies to include aneuploidy information in their analyses. (techscience.com)
- examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
Autosomal aneuploidy1
- cfDNA testing previously has been proven to accurately detect fetal autosomal aneuploidy in high-risk pregnant women. (contemporaryobgyn.net)
Mitotic2
- However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a characteristic of many types of tumorigenesis (see below). (wikipedia.org)
- We conclude that ongoing CIN is common in colorectal cancer organoids, and propose that CIN levels and the tolerance for mitotic errors shape aneuploidy landscapes and karyotype heterogeneity. (nature.com)
Trisomy 213
- The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. (wikipedia.org)
- The most common trisomy in viable births is Trisomy 21. (wikidoc.org)
- However, we found that, 90 % of patients in a tertiary centre hospital in India were not aware of trisomy 21 and various options available for prenatal screening for aneuploidy. (ijrcog.org)
Abnormal2
- High hyperdiploid acute lymphoblastic leukemia (HeH ALL), one of the most common childhood malignancies, is driven by nonrandom aneuploidy (abnormal chromosome numbers) mainly comprising chromosomal gains. (lu.se)
- This defect can be transmitted over several generations, resulting in chromosomally abnormal products with complete aneuploidy. (bvsalud.org)
Genomic1
- Chromosome segregation errors cause aneuploidy and genomic heterogeneity, which are hallmarks of cancer in humans. (nature.com)
Copy number alterations2
- Whereas over 900 tools are available to analyze scRNA-seq data (as monitored on https://www.scrna-tools.org/), only a handful output aneuploidy data or its sub-chromosomal equivalent copy number alterations (CNAs). (techscience.com)
- TP53 loss elicited progressive aneuploidy, including copy number alterations and structural variants prevalent in gastric cancers, with evident preferred orders. (stanford.edu)
Humans3
- The most frequent aneuploidy in humans is trisomy 16 and fetuses affected with the full version of this chromosome abnormality do not survive to term, although it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all. (wikipedia.org)
- Trisomy 16 is the most common trisomy in humans, occurring in more than 1% of pregnancies. (wikidoc.org)
- These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
22q11.21
- ClariTest ® Core can be used to screen singleton and egg donor/IVF pregnancies for the common trisomies, sex chromosome aneuploidies and 22q11.2 microdeletions. (bioreference.com)
Fetuses1
- Karyotyping of cells obtained by either amniocentesis or CVS is the standard and definitive means of diagnosing aneuploidy in fetuses. (cdc.gov)
Tumorigenesis1
- Abnormalities in centrosome number and structure are a common feature of many cancer cells, suggesting that decoupling of centrosome duplication from the cell cycle is likely to contribute to the generation of aneuploidy during tumorigenesis. (pewtrusts.org)
Pregnant women2
- NEW YORK (GenomeWeb) - Patients of any risk group may choose noninvasive cell-free DNA-based prenatal screening for common aneuploidies, but conventional screening methods "remain the most appropriate choice" for most pregnant women in the general population, according to a new committee opinion by the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine. (genomeweb.com)
- 5 ACOG and SMFM confirm that cfDNA screening (NIPS) is an appropriate choice of testing for all pregnant women, regardless of age or risk and that NIPS is the most sensitive and specific screening test for common aneuploidies. (bioreference.com)
Alterations1
- Our results show that aneuploidy causes alterations in metabolism and redox homeostasis. (elifesciences.org)
TP532
- These TP53 abnormalities may lead to DNA damage and subsequent aneuploidy. (spandidos-publications.com)
- Here we model occult preneoplasia by biallelic inactivation of TP53, a common early event in gastric cancer, in human gastric organoids. (stanford.edu)
Blastomere2
- Although preimplantation genetic screening (PGS) of a removed blastomere for aneuploidy would theoretically increase the likelihood of embryonic implantation, reports in the literature have been conflicting with regard to the efficacy of this technique. (medscape.com)
- Ongoing research will use live-cell time-lapse imaging to better understand the relationship between aneuploidy, cell fragmentation and blastomere exclusion within the embryo. (nprc.org)
Abnormalities1
- Dental abnormalities are also common in this disorder. (medlineplus.gov)
Pregnancies2
- Twenty-one centers in the United States were included in the research, which was performed on 1914 women (mean age 29.6 years) with singleton pregnancies who were undergoing standard aneuploidy screening with serum biochemical assays with or without nuchal translucency measurement. (contemporaryobgyn.net)
- However, because aneuploidy is less common in general pregnancies, the positive predictive value is lower, meaning there will be more false positive test results than in high-risk pregnancies. (genomeweb.com)
Cancer5
- What Is Aneuploidy and Why Is It So Common in Cancer Cells? (cancer.gov)
- The resulting aneuploidy is a key event in the progression of cancer and is correlated with tumor stage. (cdc.gov)
- Gastric cancer is the fourth most common cancer worldwide. (elsevierpure.com)
- Indeed, high expression of PLK1 was also associated with DNA aneuploidy in clinical gastric cancer specimens. (elsevierpure.com)
- ctDNA is currently the most common form of liquid biopsy, a term used to refer to utilizing circulating cancer cells, DNA and other omic markers from blood or fluid sample. (cdc.gov)
Syndrome6
- In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to those with full trisomy. (wikipedia.org)
- The most recognized forms of aneuploidy are the trisomy diseases of Down syndrome and Edwards syndrome . (wikidoc.org)
- The most common forms of autosomal trisomy are trisomy of chromosome 21 which results in Down syndrome and trisomy of chromosome 18 which results in Edwards syndrome . (wikidoc.org)
- Polycystic Ovary Syndrome (PCOS), the most common endocrine disorder of women during the reproductive period, is often implicated with NAFLD.Aim: To investigate the potential involvement of PCOS on the aggravation of NAFLD by. (endocrine-abstracts.org)
- DiGeorge syndrome is an autosomal dominant condition, and is the second most common genetic cause of heart defects and developmental delay, after Down syndrome. (bioreference.com)
- In the United States, the current standard of care in obstetrical practice is to offer either CVS or amniocentesis to women who will be greater than or equal to 35 years of age when they give birth, because these women are at increased risk for giving birth to infants with Down syndrome and certain other types of aneuploidy. (cdc.gov)
Detection1
- The sequencing approach is polymorphism independent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. (medgadget.com)
20231
- Commons forms of osteoarthritis, as well as prevention methods, were discussed at The Menopause Society 2023 annual conference. (contemporaryobgyn.net)
20161
- Brazil in January 2016] before the epidemic began in French Guiana), fetal or neonatal central nervous system anomalies, or in cases of amniocentesis performed for suspected CZS or other indications (i.e., aneuploidy diagnosis). (cdc.gov)
Diagnosis1
- Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of foetal aneuploidy by shotgun sequencing DNA from maternal blood. (ijrcog.org)
Maternal1
- Conversely, expanding access to safe, legal abortion-a common medical procedure that carries very little risk when performed by a trained provider in an appropriate environment-is associated with improved maternal health outcomes. (bvsalud.org)
Arises3
- Aneuploidy arises from errors in chromosome segregation, which can go wrong in several ways. (wikipedia.org)
- In this study, we investigate how aneuploidy in HeH ALL arises. (lu.se)
- This shows that the aneuploidy in HeH ALL likely arises by an initial tripolar mitosis in a diploid cell followed by clonal evolution, in line with a punctuated evolution model. (lu.se)
Chromosomally1
- Single cell whole genome sequencing of 2847 cells from nine primary cases and one normal bone marrow reveals that HeH ALL generally display low chromosomal heterogeneity, indicating that they are not characterized by chromosomal instability and showing that aneuploidy-driven malignancies are not necessarily chromosomally heterogeneous. (lu.se)
Methods2
- While the use of multiple aneuploidy screening methods is "not cost-effective," cell-free DNA screening "is reasonable" as a follow-up test for patients with a positive conventional screening result, the committee said. (genomeweb.com)
- Objective: To assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. (endocrine-abstracts.org)
Characteristic1
- Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered metabolism and redox homeostasis. (elifesciences.org)
Defects1
- Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. (elifesciences.org)
Miscarriage1
- Other aneuploidies are incompatible with life, causing early miscarriage or later stillbirth. (livescience.com)
Births1
- It is the most common birth defect and the most recognized form of mental retardation, appearing in about one in every 700 live births. (bvsalud.org)
Heterogeneous1
- While one might predict that simply mapping read counts per chromosome readily identifies aneuploidy, the reality is that the data are too heterogeneous to quickly determine aneuploidy by eye. (techscience.com)
Analyses1
- Aneuploidy, the loss or gain of chromosome arms, appears less prevalent in normal tissue in these clonal mutant next-generation sequencing analyses. (techscience.com)
Cells3
- When aneuploidy is detected in a fraction of cells in an individual, it is called chromosomal mosaicism. (wikipedia.org)
- One biologically relevant variable is readily inferred from scRNA-seq gene count tables regardless of individual gene representation within single cells: aneuploidy. (techscience.com)
- Aneuploidy is common in cancerous cells. (wikidoc.org)
Risk1
- The diagnostic potential of cell free DNA for fetal aneuploidy matched equally with invasive tests avoiding slight but yet considerable risk of invasive tests. (ijrcog.org)
Trisomies2
- Twin gestations can be screened for the common trisomies and for presence of the Y chromosome. (bioreference.com)
- Participants had screening for trisomies 21, 18 and 13, as well as sex chromosome aneuploidies (SCA) performed with cffDNA testing after 10 weeks' gestation. (medscape.com)
Chromosome is a common2
- An extra or missing chromosome is a common cause of some genetic disorders. (wikipedia.org)
- Loss of the Y‐chromosome is a common feature of species with chromosomal sex determination. (philpapers.org)
Centrosome1
- In cell lines, overexpression of PLK1 induced centrosome amplification and multipolar spindles, potentially leading to DNA aneuploidy. (elsevierpure.com)
Amniocentesis1
- Clinicians can offer amniocentesis and fetal karyotyping if ultrasonography suggests fetal malformations or aneuploidy. (msdmanuals.com)
Invasive1
- Non-invasive foetal testing for foetal aneuploidy. (ijrcog.org)
Likelihood1
- It looks at fragments of your baby's DNA in your blood to provide accurate information about the likelihood for the most common chromosomal conditions as early as 10 weeks. (roche.com)
Loss1
- We therefore suggest that energy loss (e.g., through impaired mitochondria) or disturbance of information (e.g., through mutations or aneuploidy) or changes in the composition or distribution of matter (e.g., through micro-environmental changes or toxic agents) can irreversibly disturb molecular mechanisms, leading to increased local entropy of cellular functions and structures. (frontiersin.org)
Triploid1
- For organisms that are normally triploid or above, disomy is an aneuploidy. (wikidoc.org)
Cellular1
- Despite its profound effects, the cellular processes affected by aneuploidy are not well characterized. (elifesciences.org)
Dependent1
- Thus, fluconazole tolerance in C. albicans is regulated by temperature and by aneuploidy and is dependent upon aneuploidy, but this dependence can be bypassed by an additional aneuploidy. (microbiologyresearch.org)
Tolerance1
- Both temperature conditional tolerance and the associated aneuploidy were sensitive to FK506, an inhibitor of calcineurin. (microbiologyresearch.org)
Consequences1
- Here, we examined the consequences of aneuploidy on the proteome of aneuploid budding yeast strains. (elifesciences.org)
Determination1
- Intuitive "eyeball" calls are uncommon in bulk RNA-seq or DNA-seq determination of aneuploidy and CNAs, so it is unsurprising that a simple stacking of read counts is insufficient for quality inference of aneuploidy in scRNA-seq data. (techscience.com)
Genetic2
- About 80 percent of our rare diseases are genetic as, apparently, are such common health risks as heart disease , high blood pressure , arthritis , diabetes , and obesity . (westsidespirit.com)
- A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes. (lu.se)
Meiosis2
- These disturbances may lead ultimately to errors in chromosome segregation during the metaphase of meiosis, and that faulty segregation to oocyte aneuploidy. (cea.fr)
- The fragile Y hypothesis proposes that in species with chiasmatic meiosis the rate of Y‐chromosome aneuploidy and the size of the recombining region have a negative correlation. (philpapers.org)