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Статті в журналах з теми "Aneuploidiya"

Автор: Grafiati

Опубліковано: 7 червня 2025

Оновлено: 2 серпня 2025

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1

Zhuchenko, Lyudmila Aleksandrovna, Elena Nikolaevna Andreeva, Fatima Katabinovna Lagkuyeva, et al. "The main results and a current state of the program of the combined prenatal screening of 1 trimester in the Russian Federation." Journal of obstetrics and women's diseases 62, no. 3 (2013): 20–25. http://dx.doi.org/10.17816/jowd62320-25.

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Prenatal diagnostics of anatomic and chromosomal defects at future child is represents high-allowing technology in system of obstetric monitoring behind the course of pregnancy and a condition of a fruit. Carrying out reform of system of prenatal screening in territorial subjects of the Russian Federation within transition to the international standard of diagnostics to early terms of the pregnancy which is carried out with support of the Government, demands regular audit. The analysis of the first results innovative for the country of mass combined PS of 1 trimester is carried out with use of

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2

Rodrigo, Lorena, Mónica Clemente-Císcar, Inmaculada Campos-Galindo, Vanessa Peinado, Carlos Simón, and Carmen Rubio. "Characteristics of the IVF Cycle that Contribute to the Incidence of Mosaicism." Genes 11, no. 10 (2020): 1151. http://dx.doi.org/10.3390/genes11101151.

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Highly sensitive next-generation sequencing (NGS) platforms applied to preimplantation genetic testing for aneuploidy (PGT-A) allow the classification of mosaicism in trophectoderm biopsies. However, the incidence of mosaicism reported by these tests can be affected by a wide number of analytical, biological, and clinical factors. With the use of a proprietary algorithm for automated diagnosis of aneuploidy and mosaicism, we retrospectively analyzed a large series of 115,368 trophectoderm biopsies from 27,436 PGT-A cycles to determine whether certain biological factors and in vitro fertilizati

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3

WILKINS-HAUG, LOUISE, and REBECCA REIMERS. "Unique Challenges of NIPT for Sex Chromosome Aneuploidy." Clinical Obstetrics & Gynecology 66, no. 3 (2023): 568–78. http://dx.doi.org/10.1097/grf.0000000000000804.

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Noninvasive prenatal testing (NIPT) for the sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, and 47,XYY) differs significantly from that for the autosomal aneuploidies (trisomy 13, 18, and 21). As a group, sex chromosome aneuploidies occur more commonly (1/400) than any one isolated autosomal aneuploidy, the phenotypic variation is greater, the role of mosaicism more challenging, and the positive predictive value of a high-risk NIPT result is substantially lower. These considerations should be identified during pretest counseling, the inclusion of sex chromosome testing offered separately, a

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4

Sheppard, Olivia, Frances K. Wiseman, Aarti Ruparelia, Victor L. J. Tybulewicz, and Elizabeth M. C. Fisher. "Mouse Models of Aneuploidy." Scientific World Journal 2012 (2012): 1–6. http://dx.doi.org/10.1100/2012/214078.

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Abnormalities of chromosome copy number are called aneuploidies and make up a large health load on the human population. Many aneuploidies are lethal because the resulting abnormal gene dosage is highly deleterious. Nevertheless, some whole chromosome aneuploidies can lead to live births. Alterations in the copy number of sections of chromosomes, which are also known as segmental aneuploidies, are also associated with deleterious effects. Here we examine how aneuploidy of whole chromosomes and segmental aneuploidy of chromosomal regions are modeled in the mouse. These models provide a whole an

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5

Zhang, Shuai, Ruixue Wang, Ludan Zhang, James A. Birchler, and Lin Sun. "Inverse and Proportional Trans Modulation of Gene Expression in Human Aneuploidies." Genes 15, no. 5 (2024): 637. http://dx.doi.org/10.3390/genes15050637.

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Genomic imbalance in aneuploidy is often detrimental to organisms. To gain insight into the molecular basis of aneuploidies in humans, we analyzed transcriptome data from several autosomal and sex chromosome aneuploidies. The results showed that in human aneuploid cells, genes located on unvaried chromosomes are inversely or proportionally trans-modulated, while a subset of genes on the varied chromosomes are compensated. Less genome-wide modulation is found for sex chromosome aneuploidy compared with autosomal aneuploidy due to X inactivation and the retention of dosage sensitive regulators o

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6

Zou, Ying, and Jaclyn Murry. "Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature." OBM Genetics 06, no. 04 (2022): 1–16. http://dx.doi.org/10.21926/obm.genet.2204168.

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Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosomy of X is the only such type of aberration that may be compatible with life. It is hypothesized that two successive malsegregation events must occur in early development to be observed constitutionally. Mechanisms like trisomy rescue or selection aga

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7

He, Meng, Eun Jung Kim, Yangmeng Wang, Alejandro Chibly, and Kristel Dorighi. "Abstract 4305: Targeting the exonuclease domain of POLE to induce synthetic lethality in highly aneuploidic tumor cells." Cancer Research 85, no. 8_Supplement_1 (2025): 4305. https://doi.org/10.1158/1538-7445.am2025-4305.

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Abstract Aneuploidy is a hallmark of cancer evolution, it is associated with fast disease progression and drug resistance across many tumor types. The underlying molecular aberration that causes aneuploidy remains largely unknown. Currently, there are no established therapeutics for tumors with high levels of aneuploidy. We propose that inhibition of the exonuclease domain of the DNA polymerase, POLE, could induce synthetic lethality in tumor cells with high levels of aneuploidy. We observed that loss of function mutations in the exonuclease domain of POLE are mutually exclusive with high leve

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8

Rubio, Carmen, Lorena Rodrigo, and Carlos Simón. "PREIMPLANTATION GENETIC TESTING: Chromosome abnormalities in human embryos." Reproduction 160, no. 5 (2020): A33—A44. http://dx.doi.org/10.1530/rep-20-0022.

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Aneuploidy is a frequent event in human embryos, and its incidence is higher in oocytes and embryos from women of advanced maternal age. Aneuploidy may also be a contributing factor in infertile populations, such as couples with recurrent miscarriages, repetitive implantation failure, or male infertility. For these reasons, preimplantation genetic testing for aneuploidy (PGT-A) has been proposed to prevent miscarriages and increase live birth rates in infertile couples undergoing in vitro fertilisation. Next-generation sequencing is currently being applied for the detection of aneuploidies in

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9

Krepischi, Ana Cristina Victorino. "Revisitando a origem cromossômica do câncer: aneuploidias promovem ou suprimem o processo tumorigênico?" Semina: Ciências Biológicas e da Saúde 38, no. 1supl (2018): 34. http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp34.

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Alterações citogenéticas que modificam o número de cópias cromossômicas (aneuploidias) são marca do câncer. Entretanto, o papel das aneuploidias no início e na progressão tumoral ainda não é totalmente elucidado. Parte da dificuldade no estudo de seu efeito provém do conjunto complexo e diverso de anormalidades cromossômicas dos diferentes tipos de tumores. Evidências recentes mostram que aneuloidias poderiam agir para antagonizar a tumorigênese em certos contextos genômicos. Ao contrário de mutações de ponto, que afetam poucos genes, ganho ou perda de um cromossomo altera a transcrição de cen

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10

Akutsu, Silvia Natsuko, Kazumasa Fujita, Keita Tomioka, Tatsuo Miyamoto, and Shinya Matsuura. "Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders." Cells 9, no. 1 (2020): 239. http://dx.doi.org/10.3390/cells9010239.

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Chromosomal segregation errors in germ cells and early embryonic development underlie aneuploidies, which are numerical chromosomal abnormalities causing fetal absorption, developmental anomalies, and carcinogenesis. It has been considered that human aneuploidy disorders cannot be resolved by radical treatment. However, recent studies have demonstrated that aneuploidies can be rescued to a normal diploid state using genetic engineering in cultured cells. Here, we summarize a series of studies mainly applying genome editing to eliminate an extra copy of human chromosome 21, the cause of the mos

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11

Bihunyak, T. V., Yu I. Bondarenko, O. O. Кulyanda, S. M. Charnosh, A. S. Sverstiuk, and K. O. Bihuniak. "CHROMOSOMAL DISEASES IN THE HUMAN PATHOLOGY." International Journal of Medicine and Medical Research 6, no. 1 (2020): 50–60. http://dx.doi.org/10.11603/ijmmr.2413-6077.2020.1.11501.

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Background. Chromosomal diseases are the cause of 45-50 % of multiple birth defects. Basic research on mutations is performed using genomic technologies to identify a correlation between genotype and phenotype in aneuploidies and to understand its pathogenesis. Objective. The aim of the research is to study the etiology, pathogenesis of symptoms and diagnostics for patients with Down, Klinefelter, Turner syndromes and double aneuploidies by 21 and sex chromosomes. Methods. A literature review by the keywords “Down syndrome”, “Klinefelter syndrome”, “Turner syndrome”, “double aneupl

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12

Navratil, Rostislav, Jakub Horak, Miroslav Hornak, et al. "Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies." Molecular Human Reproduction 26, no. 4 (2020): 269–76. http://dx.doi.org/10.1093/molehr/gaaa012.

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Abstract Chromosomal mosaicism detected during preimplantation genetic testing for aneuploidy (PGT-A) and its impact on embryo implantation have been widely discussed, and healthy live births from mosaic embryos were reported by many groups. On the other hand, only very few studies have focused on segmental chromosome aneuploidies and their clinical impact. Eighty-nine embryos with various PGT-A results (trophectoderm 1: TE1) were re-analysed using a second trophectoderm biopsy (TE2) and the rest of the embryo (RE) for testing. Of 19 euploid TE1 biopsies, 18 were concordant across TE2 and RE.

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13

Pieters, J. J. P. M., A. J. A. Kooper, A. Geurts van Kessel, D. D. M. Braat, and A. P. T. Smits. "Incidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility." ISRN Obstetrics and Gynecology 2011 (December 12, 2011): 1–10. http://dx.doi.org/10.5402/2011/807106.

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Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22–100%), behavior (0–56%), a

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14

Mallick, Samyukta, Yeseo Choi, Alison M. Taylor, and Pippa F. Cosper. "Human Papillomavirus-Induced Chromosomal Instability and Aneuploidy in Squamous Cell Cancers." Viruses 16, no. 4 (2024): 501. http://dx.doi.org/10.3390/v16040501.

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Chromosomal instability (CIN) and aneuploidy are hallmarks of cancer. CIN is defined as a continuous rate of chromosome missegregation events over the course of multiple cell divisions. CIN causes aneuploidy, a state of abnormal chromosome content differing from a multiple of the haploid. Human papillomavirus (HPV) is a well-known cause of squamous cancers of the oropharynx, cervix, and anus. The HPV E6 and E7 oncogenes have well-known roles in carcinogenesis, but additional genomic events, such as CIN and aneuploidy, are often required for tumor formation. HPV+ squamous cancers have an increa

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15

Rodrigo, Lorena, Marcos Meseguer, Emilia Mateu, et al. "Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy." Biology of Reproduction 101, no. 6 (2019): 1091–101. http://dx.doi.org/10.1093/biolre/ioz125.

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Abstract In this work we reviewed 18 years of experience using fluorescence in situ hybridization (FISH) for sperm aneuploidy testing. We evaluated parameters associated with increased numerical sperm chromosome abnormalities and determined the male contribution to embryo aneploidies in terms of reproductive outcome by increased sperm aneuploidy. This retrospective study analyzed data from 2008 sperm samples of infertile males undergoing FISH analysis because of clinical history of repetitive implantation failure, recurrent miscarriage, impaired sperm parameters, or mixed causes. Sperm concent

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16

Disharoon, Andrew O., and Joe R. Delaney. "Half the Chromosome It Used to Be: Identifying Cancer Treatments Targeting Aneuploid Losses." Genes 16, no. 6 (2025): 708. https://doi.org/10.3390/genes16060708.

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Background/Objectives: Aneuploidy is near-ubiquitous in cancer and can decrease chemotherapy efficacy while also sensitizing cells to other drugs. Methods: To systematically identify treatment strategies that target aneuploid cancers, data were integrated from The Cancer Genome Atlas (TCGA; 10,967 samples, 16,948 aneuploidy events) and the Broad Institute’s Profiling Relative Inhibition Simultaneously in Mixtures (PRISM) screen of 578 cancer cell lines and 4518 compounds. Results: Our analyses uncovered 37,720 significant positive and negative associations linking specific aneuploidies and tre

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17

Tsai, Hung-Ji, and Anjali Nelliat. "A Double-Edged Sword: Aneuploidy is a Prevalent Strategy in Fungal Adaptation." Genes 10, no. 10 (2019): 787. http://dx.doi.org/10.3390/genes10100787.

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Aneuploidy, a deviation from a balanced genome by either gain or loss of chromosomes, is generally associated with impaired fitness and developmental defects in eukaryotic organisms. While the general physiological impact of aneuploidy remains largely elusive, many phenotypes associated with aneuploidy link to a common theme of stress adaptation. Here, we review previously identified mechanisms and observations related to aneuploidy, focusing on the highly diverse eukaryotes, fungi. Fungi, which have conquered virtually all environments, including several hostile ecological niches, exhibit wid

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18

Ye, J. Christine, Liying Chen, Jason Chen, et al. "Aneuploidy Is Associated with Inferior Survival in Relapsed Refractory Multiple Myeloma Patients." Blood 134, Supplement_1 (2019): 4360. http://dx.doi.org/10.1182/blood-2019-124135.

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Objective To identify the association between aneuploidy and clinical outcome in patients with relapsed and/or refractory multiple myeloma (RRMM) who participated in MMRF (Multiple Myeloma Research Foundation) sequencing study at University of Michigan. Background: Aneuploidy, defined by abnormal copy number changes of chromosomes, is one of the hallmarks in cancer, reflecting and also contributing to genome instability (Ye, Regan et al. 2018). Approximately 90% of cancers have gained or lost one or both arms of at least one chromosome (Taylor, Shih et al. 2018). In recent years, large scale s

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19

Ellison, Christopher K., Youting Sun, Grant Hogg, et al. "Using Targeted Sequencing of Paralogous Sequences for Noninvasive Detection of Selected Fetal Aneuploidies." Clinical Chemistry 62, no. 12 (2016): 1621–29. http://dx.doi.org/10.1373/clinchem.2016.260034.

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Abstract BACKGROUND Current methods for noninvasive prenatal testing (NIPT) ascertain fetal aneuploidies using either direct counting measures of DNA fragments from specific genomic regions or relative measures of single nucleotide polymorphism frequencies. Alternatively, the ratios of paralogous sequence pairs were predicted to reflect fetal aneuploidy. We developed a NIPT assay that uses paralog sequences to enable noninvasive detection of fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA (cfDNA) from maternal plasma. METHODS A total of 1060 primer pairs were designed to determ

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20

Lázár, Levente, Gyula Richárd Nagy, János Rigó jr., and Bálint Nagy. "Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies." Orvosi Hetilap 153, no. 43 (2012): 1687–91. http://dx.doi.org/10.1556/oh.2012.29474.

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Prenatal detection of fetal aneuploidies is one of the main goals of the prenatal diagnostic approach. As a benefit of the development of advanced ultrasound equipment and advances in molecular biology in the last decade, there is a significant progress in screening methods for fetal aneuploidies, although invasive methods remain the gold standard for aneuploidy detection. Non-invasive prenatal diagnosis has substantial medical impact as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Identification

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21

Бескоровайная, Т. С., А. Л. Чухрова, В. Б. Черных, О. А. Щагина, and А. В. Поляков. "The role of the QF-PCR method in the detection of frequent aneuploidies." Nauchno-prakticheskii zhurnal «Medicinskaia genetika 22, no. 7 (2023): 11–20. http://dx.doi.org/10.25557/2073-7998.2023.07.11-20.

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Анеуплоидия – это изменение числа гомологичных хромосом в диплоидном наборе в клетке. Наиболее распространенными анеуплоидиями, совместимыми с живорождением, являются анеуплоидии по хромосомам 13, 18, 21, X и Y. В настоящее время для диагностики частых анеуплоидий возможно использование быстрого, надежного и недорогого метода количественной флуоресцентной полимеразной цепной реакции (КФ-ПЦР). В результате исследования данным методом 1192 пренатальных и 195 постнатальных образцов в 15% случаев были выявлены различные хромосомные аномалии. Наиболее часто детектируемой анеуплоидией являлась трисо

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22

Abib, Laila, Renato Sá, and Fernando Peixoto-Filho. "First-trimester Combined Screening Test for Aneuploidies in Brazilian Unselected Pregnancies: Diagnostic Performance of Fetal Medicine Foundation Algorithm." Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics 40, no. 07 (2018): 384–89. http://dx.doi.org/10.1055/s-0038-1666996.

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Objective The main objective of this study was to examine the diagnostic performance of the first-trimester combined test for aneuploidies in unselected pregnancies from Rio de Janeiro and compare it with the examples available in the literature. Methods We investigated 3,639 patients submitted to aneuploidy screening from February 2009 to September 2015. The examination is composed of the Fetal Medicine Foundation risk evaluation based on nuchal translucency evaluation, mother's age, presence of risk factors, presence of the nasal bone and Doppler of the ductus venous in addition to biochemic

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23

Zadesenets, K. S., and N. B. Rubtsov. "From cytogenetics to proteogenomics: new horizons in the study of aneuploidies." Vavilov Journal of Genetics and Breeding 29, no. 3 (2025): 335–48. https://doi.org/10.18699/vjgb-25-37.

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Aneuploidy is defined as the loss or gain of a whole chromosome or its region. Even at early stages of development, it usually leads to fatal consequences, including developmental defects/abnormalities and death. For a long time, it was believed that the disruption of gene balance results in pronounced effects at both the cellular and organismal levels, adversely affecting organism formation. It has been shown that the gene imbalance resulting from aneuploidy leads to proteotoxic and metabolic stress within the cell, reduced cell proliferation, genomic instability, oxidative stress, etc. Howev

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24

Zhakula-Kostadinova, Nadja, Sejal Jain, Laura Byron, Matthew L. Meyerson, and Alison M. Taylor. "Abstract PR016: Investigating vulnerabilities associated with chromosome arm aneuploidy in cancer." Molecular Cancer Therapeutics 23, no. 6_Supplement (2024): PR016. http://dx.doi.org/10.1158/1538-8514.synthleth24-pr016.

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Abstract Aneuploidy – loss or gain of whole chromosomes or chromosome arms, is rare and poorly tolerated in normal cells but occurs in ∼90% of solid tumors; however, the mechanisms through which specific aneuploidies affect cancer development are unclear. Additionally, generating mammalian models of specific chromosome arm alterations is technically difficult, limiting further study. Cancers have tumor, cell, and tissue type-specific patterns of chromosome arm copy-number alterations that influence tumor evolution and sensitivity to anti-cancer therapies. Squamous cell carcinomas (SCCs) affect

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25

Winnard, Paul T., Laura Morsberger, Raluca Yonescu, Liqun Jiang, Ying S. Zou, and Venu Raman. "Isogenic Cell Lines Derived from Specific Organ Metastases Exhibit Divergent Cytogenomic Aberrations." Cancers 15, no. 5 (2023): 1420. http://dx.doi.org/10.3390/cancers15051420.

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Aneuploidy, a deviation in chromosome numbers from the normal diploid set, is now recognized as a fundamental characteristic of all cancer types and is found in 70–90% of all solid tumors. The majority of aneuploidies are generated by chromosomal instability (CIN). CIN/aneuploidy is an independent prognostic marker of cancer survival and is a cause of drug resistance. Hence, ongoing research has been directed towards the development of therapeutics aimed at targeting CIN/aneuploidy. However, there are relatively limited reports on the evolution of CIN/aneuploidies within or across metastatic l

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Tosh, Justin, Victor Tybulewicz, and Elizabeth M. C. Fisher. "Mouse models of aneuploidy to understand chromosome disorders." Mammalian Genome 33, no. 1 (2021): 157–68. http://dx.doi.org/10.1007/s00335-021-09930-z.

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AbstractAn organism or cell carrying a number of chromosomes that is not a multiple of the haploid count is in a state of aneuploidy. This condition results in significant changes in the level of expression of genes that are gained or lost from the aneuploid chromosome(s) and most cases in humans are not compatible with life. However, a few aneuploidies can lead to live births, typically associated with deleterious phenotypes. We do not understand why phenotypes arise from aneuploid syndromes in humans. Animal models have the potential to provide great insight, but less than a handful of mouse

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27

Morales de Machín, Alisandra, and Enrique Machín Cáceres. "Cribado prenatal de aneuploidías mediante análisis de ácido desoxirribonucleíco libre total circulante en plasma materno. Revisión narrativa." Revista de Obstetricia y Ginecología de Venezuela 84, no. 02 (2024): 185–204. http://dx.doi.org/10.51288/00840212.

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The non-invasive prenatal test is a screening method for fetal aneuploidies and if the result is at high risk, it must be confirmed through diagnostic genetic test. It is the most sensitive and specific detection test for common fetal aneuploidies and minimizes the use of invasive techniques, only for pregnant women at high risk. Genetic counseling should be performed before and after screening. This study aims to describe the basic fundamentals of non-invasive prenatal testing by analyzing free circulating deoxyribonucleic acid in maternal plasma for aneuploidy screening, and the primary meth

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28

Kershenovich Sefchovich, Ronny. "Inconclusive prenatal sex determination in an NIPT due to probable confined placental mosaicism and the importance of amniocentesis." Journal of Reproduction 2, no. 2 (2023): 86–89. http://dx.doi.org/10.58779/issn.2954-467x.tjor2023.v2.n2.29.

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Non-invasive prenatal diagnosis in maternal blood from placental has become the first-line test for the early detection of chromosomal aneuploidies. Amniocentesis remains the gold standard for the accurate diagnosis of any chromosomal aneuploidy. However, sometimes noninvasive prenatal tests can report inconclusive results which presents a dilemma for decision making. We report a case where fetal sex was inconclusive and confirmation by amniocentesis was performed on a couple.

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29

García-Pascual, Carmen M., Luis Navarro-Sánchez, Roser Navarro, et al. "Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR." Genes 11, no. 7 (2020): 724. http://dx.doi.org/10.3390/genes11070724.

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The detection of chromosomal aneuploidies and mosaicism degree in preimplantation embryos may be essential for achieving pregnancy. The aim of this study was to determine the robustness of diagnosing homogenous and mosaic aneuploidies using a validated algorithm and the minimal resolution for de novo and inherited deletions and duplications (Del/Dup). Two workflows were developed and validated: (a,b) preimplantation genetic testing for uniform whole and segmental aneuploidies, plus mixtures of euploid/aneuploid genomic DNA to develop an algorithm for detecting mosaicism; and (c) preimplantatio

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BOHILTEA, Roxana-Elena, Alina VEDUTA, Ana-Maria CIOCA, et al. "First-trimester Doppler ultrasound examination." Romanian Journal of Medical Practice 16, no. 4 (2021): 460–65. http://dx.doi.org/10.37897/rjmp.2021.4.11.

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First-trimester screening is focused on both markers of aneuploidies and structural abnormalities detection. In the past ten years, clinicians have been increasingly interested in using Doppler ultrasound in the first trimester of pregnancy. Doppler examination can help estimate the risk of aneuploidy and early diagnose severe fetal malformations. The purpose of this article is to highlight the importance of color Doppler ultrasound examination of the fetus in the first trimester. Color Doppler examination also has a great significance in studying maternal-fetal circulation. According to the I

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Taylor, Alison M. "Abstract NG03: Functional and computational approaches to uncover selection advantages of cancer aneuploidy." Cancer Research 84, no. 7_Supplement (2024): NG03. http://dx.doi.org/10.1158/1538-7445.am2024-ng03.

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Abstract Aneuploidy, including the gain or loss of whole chromosomes or chromosome arms, is a near-universal feature of cancer. We previously applied methods that define chromosome arm aneuploidy to over 10,000 tumors in the Cancer Genome Atlas (TCGA). Cancer subtypes are often characterized by tumor specific patterns of chromosome arm copy number alterations and breakpoints; for example, squamous cell carcinomas (SCCs) from different tissues of origin are characterized by chromosome 3p (chr3p) loss and chromosome 3q (chr3q) gain. From the TCGA aneuploidy data, we developed an algorithm called

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Guyot, Charlotte, Marlène Gandula, Wendy Noordermeer, et al. "FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)." International Journal of Molecular Sciences 22, no. 19 (2021): 10383. http://dx.doi.org/10.3390/ijms221910383.

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Numerical chromosomal aberrations in sperm are considered to be a major factor in infertility, early pregnancy loss and syndromes with developmental and cognitive disabilities in mammals, including primates. Despite numerous studies in human and farm animals, the incidence and importance of sperm aneuploidies in non-human primate remains mostly undetermined. Here we investigated the incidence and distribution of sperm aneuploidy in chimpanzees (Pan troglodytes), the species closest to human. We identify evolutionary conserved DNA sequences in human and chimpanzee and selected homologous sub-te

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Tkach, I. R., N. L. Huleyuk, D. V. Zastavna, G. M. Bezkorovaina, N. V. Helner, and O. V. Benko. "Cytogenetic analysis of 2554 samples of the products of conception from early reproductive losses." Faktori eksperimental'noi evolucii organizmiv 35 (September 25, 2024): 79–82. http://dx.doi.org/10.7124/feeo.v35.1662.

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Aim. Early pregnancy losses (EPL), to some extent, can be considered a mechanism of natural selection that prevents the development of defective fetuses, since it is believed that even up to 80 % of the causes have genetic disorders. Among the genetic factors of EPL karyotype disorders should be included first of all. Overall, up to 50 % of early miscarriages are caused by karyotype abnormalities. The purpose of this study was studied the contribution of chromosomal abnormalities to the genesis of EPL. Methods. Banding cytogenetic and interphase mFISH with the centromeric probe panel for chrom

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Ting, Ning-Shiuan, Ying-Hsi Chen, Shih-Fen Chen, and Pao-Chu Chen. "Successful Live Twin Birth through IVF/ICSI from a Couple with an Infertile Father with Pericentric Inversion of Chromosome 9 (p12q13): A Case with a High Aneuploidy Rate." Medicina 58, no. 11 (2022): 1646. http://dx.doi.org/10.3390/medicina58111646.

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Evidence suggests that the pericentric inversion of chromosome 9 (inv(9)) does not affect the aneuploidy rate (38.5%) after IVF. Herein, we report a successful live female twin birth through IVF/ICSI with a high aneuploidy rate from a couple within which the infertile father has inv(9)(p12q13). A couple (a 34-year-old male and a 35-year-old female) was referred to our clinic due to infertility. The wife has a child with her previous husband. Results from the infertility workup of both parents were normal. Karyotyping revealed that the inv(9)(p12q13) of the father was the only cytogenetic abnor

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Atlıhan, Ufuk, Tevfik Berk Bıldacı, Selçuk Erkılınç, Onur Yavuz, Hüseyin Aytuğ Avşar, and Can Ata. "Retrospective Results of Our Non-Invasive Prenatal Test (NIPT) Experience." Ege Tıp Dergisi 63, no. 4 (2024): 611–17. https://doi.org/10.19161/etd.1496635.

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Aim: Non-invasive prenatal test (NIPT) has become widespread over the years with higher probabilities of detection and fewer false positives with regard to traditionally used screening techniques. We aimed to document the experience of introducing this kind of equipment intoiclinical practice, evaluate its impact on the detection of fetal-aneuploidies, analyze the demographic characteristics of females undergoing 1.trimester fetal-aneuploidy screening testing with those choosing the NIPT, and assess elements influencing cfDNA fetal fraction. Materials and Methods: Our research was designed as

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Heasley, Lydia R., Ruth A. Watson, and Juan Lucas Argueso. "Punctuated Aneuploidization of the Budding Yeast Genome." Genetics 216, no. 1 (2020): 43–50. http://dx.doi.org/10.1534/genetics.120.303536.

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Remarkably complex patterns of aneuploidy have been observed in the genomes of many eukaryotic cell types, ranging from brewing yeasts to tumor cells. Such aberrant karyotypes are generally thought to take shape progressively over many generations, but evidence also suggests that genomes may undergo faster modes of evolution. Here, we used diploid Saccharomyces cerevisiae cells to investigate the dynamics with which aneuploidies arise. We found that cells selected for the loss of a single chromosome often acquired additional unselected aneuploidies concomitantly. The degrees to which these gen

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Sturich, A., P. Calafat, M. Botterón, et al. "Aneuploidies of chromosome 17 in breast cancer: Relative prevalence in a series of 170 patients from Córdoba, Argentina, studied with fluorescent in-situ hybridization (FISH)." Journal of Clinical Oncology 27, no. 15_suppl (2009): e22195-e22195. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22195.

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e22195 Background: The amplification of HER-2 oncogen, located in 17q11.2–12, occurs in 20–30% of invasive breast cancer. Numerical anomalies of chromosome 17 are frequent findings in these patients, during the study of the amplification of HER-2 oncogen with FISH technique, though clinical implications are yet not defined. Objectives: To determine the presence of chromosome 17 aneuploidies in a series of patients with histological diagnosis of breast cancer and to correlate these data with amplification and overexpression of HER-2 oncogen. Methods: Samples of 170 patients included in paraffin

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Rush, Eric T., G. Bradley Schaefer, Warren G. Sanger, and Peter F. Coccia. "Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies." Cytogenetic and Genome Research 147, no. 1 (2015): 31–34. http://dx.doi.org/10.1159/000441585.

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Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature rev

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Guo, Qiwei, Li Xiao, and Yulin Zhou. "Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of Segmental Duplications." Clinical Chemistry 58, no. 6 (2012): 1019–25. http://dx.doi.org/10.1373/clinchem.2011.178475.

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Abstract BACKGROUND Several molecular methods, such as quantitative fluorescence PCR and multiplex ligation-dependent probe amplification, currently serve as important adjuncts to traditional karyotyping for the diagnosis of aneuploidy; however, the performance or throughput limitations of these methods hinder their use for routine prenatal diagnosis and population-based postnatal screening. We developed a novel approach, called “high-resolution melting analysis of segmental duplications,” to detect common aneuploidies. METHODS In this method, similar sequences located on different chromosomes

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Mohammad Khuzaini, Aliyyah, Adilah W. Ab Rahim, Halimah Abdul Halim, Eva Foong, and Yee Shan Lim. "Double Autosomal Aneuploidy: A Case of Trisomy 18 and 21 Mosaicism in A Neonate with Clinical Down Syndrome." Malaysian Journal of Paediatrics and Child Health 30, no. 1 (2024): 37–43. http://dx.doi.org/10.51407/mjpch.v30i1.273.

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Background: Double aneuploidy is the phenomenon where two aneuploidies co-exist in the same individual, usually involving one autosomal chromosome and one sex chromosome. Double autosomal aneuploidy is rare and usually results in spontaneous abortions. There are only six published case reports of liveborn with trisomy 18 and trisomy 21 and all of which involve mosaicism. Case Presentation: This case report documents an infant born at 35 weeks with phenotypic features of Down Syndrome. However, cytogenetic analysis showed a mosaic of both trisomy 18 and 21. The patient initially had patent duct

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Milachich, Tanya. "New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies." BioMed Research International 2014 (2014): 1–8. http://dx.doi.org/10.1155/2014/306505.

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The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplant

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Ferraretti, AP, L. Gianaroli, and MC Magli. "O-48. Prognostic value of PGD for aneuploidy: genetic screening of aneuploidies." Reproductive BioMedicine Online 4 (January 2002): 31–32. http://dx.doi.org/10.1016/s1472-6483(12)60067-4.

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García-Herrero, Sandra, Inmaculada Campos-Galindo, José Antonio Martínez-Conejero, et al. "BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis." BioMed Research International 2014 (2014): 1–7. http://dx.doi.org/10.1155/2014/590298.

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The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used t

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Avent, Neil D., A. Webb, TE Madgett, et al. "Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?" Balkan Journal of Medical Genetics 15, Supplement (2012): 17–26. http://dx.doi.org/10.2478/v10034-012-0013-z.

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ABSTRACT Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discover

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Yuan, Yuan, Fuman Jiang, Sang Hua, et al. "Feasibility Study of Semiconductor Sequencing for Noninvasive Prenatal Detection of Fetal Aneuploidy." Clinical Chemistry 59, no. 5 (2013): 846–49. http://dx.doi.org/10.1373/clinchem.2012.196725.

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BACKGROUND Noninvasive prenatal detection of common fetal aneuploidies with cell-free DNA from maternal plasma has been achieved with high-throughput next-generation sequencing platforms. Turnaround times for previously tested platforms are still unsatisfactory for clinical applications, however, because of the time spent on sequencing. The development of semiconductor sequencing technology has provided a way to shorten overall run times. We studied the feasibility of using semiconductor sequencing technology for the noninvasive detection of fetal aneuploidy. METHODS Maternal plasma DNA from 1

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Taylor, Alison Marie. "Abstract LE03-01: Functional and computational approaches to uncover selection advantages of cancer aneuploidy." Cancer Research 82, no. 12_Supplement (2022): LE03–01—LE03–01. http://dx.doi.org/10.1158/1538-7445.am2022-le03-01.

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Abstract Aneuploidy, including the gain or loss of whole chromosomes or chromosome arms, is a near-universal feature of cancer. We previously applied methods that define chromosome arm aneuploidy to over 10,000 tumors in the Cancer Genome Atlas (TCGA). Cancer subtypes are often characterized by tumor specific patterns of chromosome arm copy number alterations and breakpoints; for example, squamous cell carcinomas (SCCs) from different tissues of origin are characterized by chromosome 3p (chr3p) loss and chromosome 3q (chr3q) gain. From the TCGA aneuploidy data, we developed an algorithm called

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Olenev, A. S., E. E. Baranova, O. V. Sagaydak, et al. "International experience in organizing non-invasive prenatal testing." Voprosy ginekologii, akušerstva i perinatologii 20, no. 1 (2021): 129–37. http://dx.doi.org/10.20953/1726-1678-2021-1-129-137.

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Non-invasive prenatal testinging (NIPT) is a relatively new method aimed at detecting fetal chromosomal aneuploidies by analyzing extracellular fetoplacental DNA in the blood of a pregnant woman. NIPT has high sensitivity and specificity, and many professional communities now recommend its use as a screening method. Since its introduction into clinical practice in Hong Kong in 2011, NIPT has expanded rapidly around the world. The experience of various countries in organizing non-invasive prenatal testing is described in this article. Key words: NIPT, non-invasive prenatal testing, extracellula

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Norton, Mary E. "Cell-free DNA Screening for Aneuploidy." Clinical Obstetrics & Gynecology 66, no. 3 (2023): 557–67. http://dx.doi.org/10.1097/grf.0000000000000796.

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Cell-free DNA (cfDNA) screening has high detection for the common fetal autosomal aneuploidies, but is not diagnostic. The positive predictive value should be utilized in counseling after a positive cell-free DNA screen, and diagnostic testing should be offered for confirmation. cfDNA screening does not report a result in ~3% of cases; nonreportable results indicate an increased risk for aneuploidy and some adverse perinatal outcomes. False-positive cfDNA screening occurs due to confined placental mosaicism, maternal copy number variants, mosaicism, and cancer. Pretest education and counseling

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McCoy, Rajiv C., Michael C. Summers, Abeo McCollin, Christian S. Ottolini, Kamal Ahuja, and Alan H. Handyside. "Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos." Genome Medicine 15, no. 1 (2023). http://dx.doi.org/10.1186/s13073-023-01231-1.

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Abstract Background The high incidence of aneuploidy in early human development, arising either from errors in meiosis or postzygotic mitosis, is the primary cause of pregnancy loss, miscarriage, and stillbirth following natural conception as well as in vitro fertilization (IVF). Preimplantation genetic testing for aneuploidy (PGT-A) has confirmed the prevalence of meiotic and mitotic aneuploidies among blastocyst-stage IVF embryos that are candidates for transfer. However, only about half of normally fertilized embryos develop to the blastocyst stage in vitro, while the others arrest at cleav

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Girish, Vishruth, Asad A. Lakhani, Sarah L. Thompson, et al. "Oncogene-like addiction to aneuploidy in human cancers." Science, July 6, 2023. http://dx.doi.org/10.1126/science.adg4521.

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Most cancers exhibit aneuploidy, but its functional significance in tumor development is controversial. Here, we describe ReDACT ( Re storing D isomy in A neuploid cells using C RISPR T argeting), a set of chromosome engineering tools that allow us to eliminate specific aneuploidies from cancer genomes. Using ReDACT, we created a panel of isogenic cells that have or lack common aneuploidies, and we demonstrate that trisomy of chromosome 1q is required for malignant growth in cancers harboring this alteration. Mechanistically, gaining chromosome 1q increases the expression of MDM4 and suppresse

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