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Journal articles on the topic 'Chromosomal aneuploidies'

Author: Grafiati

Published: 4 June 2021

Last updated: 5 February 2022

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1

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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Vorsanova, Svetlana G., Alexei D. Kolotii, Ivan Y. Iourov, et al. "Evidence for High Frequency of Chromosomal Mosaicism in Spontaneous Abortions Revealed by Interphase FISH Analysis." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 375–80. http://dx.doi.org/10.1369/jhc.4a6424.2005.

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Numerical chromosomal imbalances are a common feature of spontaneous abortions. However, the incidence of mosaic forms of chromosomal abnormalities has not been evaluated. We have applied interphase multicolor fluorescence in situ hybridization using original DNA probes for chromosomes 1, 9, 13, 14, 15, 16, 18, 21, 22, X, and Y to study chromosomal abnormalities in 148 specimens of spontaneous abortions. We have detected chromosomal abnormalities in 89/148 (60.1%) of specimens. Among them, aneuploidy was detected in 74 samples (83.1%). In the remaining samples, polyploidy was detected. The mos

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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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Chai, Hongyan, Autumn DiAdamo, Brittany Grommisch, et al. "Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities." Medical Sciences 7, no. 2 (2019): 16. http://dx.doi.org/10.3390/medsci7020016.

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Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements, and pathogenic copy number variants (pCNV), we performed a retrospective analysis on a case series initially analyzed by aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then followed by array comparative genomic hybridization (aCGH). Of the 386 cases retrieved from the past decade, common aneuploidies were detected in 137

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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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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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Ebrahimian, Neda, Fatemeh Montazeri, Mohammad Reza Sadeghi, Seyed Mehdi Kalantar, Kambiz Gilany, and Mohannad Ali Khalili. "Reanalysis of discarded blastocysts for autosomal aneuploidy after sex selection in cleavage-stage embryos." Clinical and Experimental Reproductive Medicine 47, no. 4 (2020): 293–99. http://dx.doi.org/10.5653/cerm.2019.03426.

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Objective: The goal of the present study was to investigate the rate of chromosomal aneuploidies in surplus embryos after sex determination at the cleavage stage. Then, the same chromosomal aneuploidies were evaluated in blastocysts after extended culture.Methods: Sixty-eight surplus embryos were biopsied at the cleavage stage and incubated for an additional 3 days to allow them to reach the blastocyst stage. The embryos were reanalyzed via fluorescence in situ hybridization (FISH) to examine eight chromosomes (13, 15, 16, 18, 21, 22, X, and Y) in both cleavage-stage embryos and blastocysts.Re

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Vicic, Ana, Vedrana Skaro, Petar Projic, Petra Korac, Romana Gjergja-Juraski, and Feodora Stipoljev. "Antenatal detection of chromosomal abnormalities combining QF-PCR and cytogenetic analysis." Molecular and experimental biology in medicine 3, no. 1 (2020): 34–43. http://dx.doi.org/10.33602/mebm.3.1.6.

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Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities. Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure. Results: Among 133 analyzed prena

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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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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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Li, Chunyan, Biliang Chen, Jiao Zheng, et al. "Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells." Reproductive Sciences 26, no. 7 (2018): 1005–12. http://dx.doi.org/10.1177/1933719118804416.

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Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes. Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Results: The overall abnormality detection rate (BoBs combined with karyotyping) was 7.73% (282/3647). A t

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12

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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Pande, Shailesh, Mani Bhushan, Anurita Pais, Gauri Pradhan, Chaitali Kadam, and Sunmeet Matkar. "Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome." International Journal of Contemporary Pediatrics 4, no. 4 (2017): 1545. http://dx.doi.org/10.18203/2349-3291.ijcp20172706.

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Instability of the heterochromatic centromeric regions of chromosomes 1 associated with immunodeficiency was found in a 3 and half months old girl. The case was referred to Department of Genetics, Global Reference Laboratory, Metropolis Healthcare Ltd, Mumbai with the suspicion of Downs Syndrome for chromosomal karyotyping. This patient had facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1 and homologous and non-homologous associations of these regions were the most common cytogenetic fi

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Weise, Anja, and Thomas Liehr. "Fluorescencein situhybridization for prenatal screening of chromosomal aneuploidies." Expert Review of Molecular Diagnostics 8, no. 4 (2008): 355–57. http://dx.doi.org/10.1586/14737159.8.4.355.

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15

Viville, Stéphane, Richard Mollard, Marie-Lorraine Bach, Cédric Falquet, Pierre Gerlinger, and Stéphanie Warter. "Do morphological anomalies reflect chromosomal aneuploidies?*: Case Report." Human Reproduction 15, no. 12 (2000): 2563–66. http://dx.doi.org/10.1093/humrep/15.12.2563.

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Escudero, T., L. Ribustello, A. Suhotliv, et al. "Are partial aneuploidies linked with chromosomal structural abnormalities?" Fertility and Sterility 102, no. 3 (2014): e94. http://dx.doi.org/10.1016/j.fertnstert.2014.07.321.

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17

Cioni, Riccardo, Cecilia Bussani, and Mariarosaria Di Tommaso. "Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples." ISRN Genetics 2013 (December 23, 2013): 1–5. http://dx.doi.org/10.5402/2013/810120.

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Objective. To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). Study Design. DNA analysis was performed on cells of seemingly trophoblastic origin isolated from IUL samples collected prior to first trimester termination of pregnancy. The analysis was performed by multiplex QF-PCR, using a panel of 29 polymorphic short tandem repeats (STRs) for the chromosomes X, Y, 21, 13, and 18. Results. The QF-PCR analys

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Giraldo, A. M., M. C. Gomez, B. L. Dresser, R. F. Harris, A. L. King, and C. E. Pope. "4CHROMOSOMAL STABILITY OF AFRICAN WILD CAT (FELIS SILVESTRIS LIBICA) SOMATIC CELLS AND CLONED EMBRYOS." Reproduction, Fertility and Development 16, no. 2 (2004): 124. http://dx.doi.org/10.1071/rdv16n1ab4.

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Nuclear transfer (NT) procedures are generally inefficient and chromosomal abnormalities have been suggested as one causative factor. Embryos derived by somatic cell NT show a high incidence of aneuploidy, which seems to be reflective of the donor cell line with high chromosomal abnormalities (Bureau et al., 2003, Theriogenology 59, 239). Also, aneuploidies in some cell lines increase progressively with the number of passages (Denning et al., 2001, Cloning 3, 221–231). Therefore, the aim of the present study was to analyze the chromosomal stability of donor cells at different passages as well

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Wu, L., L. Jin, W. Chen, et al. "The true incidence of chromosomal mosaicism after preimplantation genetic testing is much lower than that indicated by trophectoderm biopsy." Human Reproduction 36, no. 6 (2021): 1691–701. http://dx.doi.org/10.1093/humrep/deab064.

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Abstract STUDY QUESTION What is the true incidence of chromosomal mosaicism in embryos analyzed by preimplantation genetic testing (PGT) SUMMARY ANSWER The true incidence of chromosomal mosaicism is much lower than we usually surmise. WHAT IS KNOWN ALREADY In recent years, contemporary methods for chromosome analysis, along with the biopsy of more than one cell, have given rise to an increased rate of chromosomal mosaicism detection after preimplantation genetic testing for aneuploidy. However, the exorbitant incidence of mosaicism represents a dilemma and imposes restrictions on the applicati

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Biricik, Anil, Ettore Cotroneo, Maria Giulia Minasi, et al. "Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model." Life 11, no. 4 (2021): 340. http://dx.doi.org/10.3390/life11040340.

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Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since their higher capability to detect chromosomal mosaicism in human embryos. In the recent years, new NGS systems were released, however their performance for chromosomal mosaicism are variable. We performed a cross-validation analysis of two different NGS platforms in order to assess the feasibility of these techniques and provide standard parame

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Athanasiadis, Apostolos P., and AI Zavlanos. "Screening for Fetal Aneuploidies in 1st Trimester." Donald School Journal of Ultrasound in Obstetrics and Gynecology 10, no. 2 (2016): 147–53. http://dx.doi.org/10.5005/jp-journals-10009-1458.

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ABSTRACT Effective screening of fetal aneuploidy started in the early 1960s, initially based on the age of the mother. Recent screening protocols based on various maternal serum factors and on new ultrasound techniques during the 1st and 2nd trimester offered to all pregnant women noninvasive prognostic methods for risk assessment of chromosomal abnormalities and performanceinvasive prenatal diagnostic methods only in high-risk cases. In this review, we discuss the ultrasound and biochemical markers of chromosomal abnormalities in the 1st trimester, the evaluation of free fetal deoxyribonuclei

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Łazarczyk, Ewelina, Magdalena Pasińska, Katarzyna Osmańska-Załuska, and Olga Haus. "Selected genetic causes of miscarriages." Postępy Higieny i Medycyny Doświadczalnej 75 (February 26, 2021): 116–21. http://dx.doi.org/10.5604/01.3001.0014.7758.

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Approximately 15–25% of pregnancies end in spontaneous abortion, which is an expulsion from the mother body of the fetus weighing less than 500 g or before the 20th week of gestation. Determining abortions etiology is difficult due to its multifactorial character. Chromosomal abnormalities cause 38.6–80% of miscarriages. The largest group (93%) of chromosomal aberrations found in miscarried fetuses are numerical changes – aneuploidies and polyploidies. Much rarer (7%) are unbalanced structural aberrations, which can arise de novo or can be inherited from a carrier parent. In couples with spont

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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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Karadzov-Orlic, Natasa, Amira Egic, Dejan Filimonovic, et al. "Screening for aneuploidies by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-13+6 gestational weeks." Srpski arhiv za celokupno lekarstvo 140, no. 9-10 (2012): 606–11. http://dx.doi.org/10.2298/sarh1210606k.

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Introduction. Aneuploidies are the major cause of perinatal death and early psychophysical disorders. Objective. In this study, we analyzed detection and false-positive rates of screening for aneuploidies in the first trimester by the combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotrophin (?-hCG), and pregnancy-associated plasma protein-A (PAPP-A) at 11-13+6 weeks of gestation, using the appropriate software developed by the Fetal Medicine Foundation. Methods. Our screening study for aneuploidies analyzed 4172 singleton

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Jones, S. R., S. E. Evans, W. E. Mackenzie, and P. Hodgkins. "FIRST TRIMESTER ALPHA-FETOPROTEIN LEVELS AND FETAL CHROMOSOMAL ANEUPLOIDIES." Lancet 331, no. 8589 (1988): 826–27. http://dx.doi.org/10.1016/s0140-6736(88)91688-1.

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Stenberg, Per, Lina E. Lundberg, Anna-Mia Johansson, Patrik Rydén, Malin J. Svensson, and Jan Larsson. "Buffering of Segmental and Chromosomal Aneuploidies in Drosophila melanogaster." PLoS Genetics 5, no. 5 (2009): e1000465. http://dx.doi.org/10.1371/journal.pgen.1000465.

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Smith, R., J. Stevens, T. Schlenker, S. McCormick, W. B. Schoolcraft, and M. Katz-Jaffe. "Sibling immature oocytes exhibit higher rates of chromosomal aneuploidies." Fertility and Sterility 94, no. 4 (2010): S52. http://dx.doi.org/10.1016/j.fertnstert.2010.07.203.

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Erdogan, Murat, Asli Subasioglu Uzak, Sevda Yesim Karabulut, et al. "A case with 49, XXXXY syndrome: rare chromosomal aneuploidies." Current Opinion in Biotechnology 22 (September 2011): S106. http://dx.doi.org/10.1016/j.copbio.2011.05.338.

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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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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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Duesberg, Peter, Ruhong Li, Alice Fabarius, and Ruediger Hehlmann. "The Chromosomal Basis of Cancer." Analytical Cellular Pathology 27, no. 5-6 (2005): 293–318. http://dx.doi.org/10.1155/2005/951598.

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Conventional genetic theories have failed to explain why cancer (1) is not heritable and thus extremely rare in newborns, (2) is caused by non-mutagenic carcinogens, (3) develops only years to decades after initiation by carcinogens, (4) follows pre-neoplastic aneuploidy, (5) is aneuploid, (6) is chromosomally and phenotypically “unstable”, (7) carries specific aneusomies, (8) generates much more complex phenotypes than conventional mutation such as multidrug resistance, (9) generates nonselective phenotypes such as metastasis (no benefit at native site) and “immortality” (not necessary for tu

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Жигалина, Д. И., Н. А. Скрябин, О. Р. Канбекова, А. Н. Марошкина, Е. О. Чуркин, and И. Н. Лебедев. "Structure of chromosomal abnormalities in the cycles of IVF-PGS." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 3() (March 29, 2019): 47–54. http://dx.doi.org/10.25557/2073-7998.2019.03.47-54.

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Актуальность: Ограниченный репродуктивный потенциал у человека и прогрессирующее ухудшение репродуктивного здоровья населения стали причиной развития вспомогательных репродуктивных технологий в последние десятилетия. С целью повышения вероятности имплантации бластоцисты, снижения частоты спонтанных абортов у семейных пар, которые имеют проблемы репродукции, в клиническую практику был введен преимплантационный генетический скрининг (ПГС). Культивирование эмбрионов человека in vitro в циклах экстракорпорального оплодотворении (ЭКО), а также возможность получения генетического материала при прове

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Rubio, Carmen, and Carlos Simón. "Embryo Genetics." Genes 12, no. 1 (2021): 118. http://dx.doi.org/10.3390/genes12010118.

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Advances in embryo and reproductive genetics have influenced clinical approaches to overcome infertility. Since the 1990s, many attempts have been made to decipher the genetic causes of infertility and to understand the role of chromosome aneuploidies in embryo potential. At the embryo stage, preimplantation genetic testing for chromosomal abnormalities and genetic disorders has offered many couples the opportunity to have healthy offspring. Recently, the application of new technologies has resulted in more comprehensive and accurate diagnoses of chromosomal abnormalities and genetic condition

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ZHU, Yuan, Qiong-fang WU, Cai-lin XIN, et al. "Study of the Sperm Chromosomal Aneuploidies of Isolated Teratozoospermic Men." Journal of Reproduction and Contraception 24, no. 1 (2013): 1–9. http://dx.doi.org/10.1016/s1001-7844(13)60015-2.

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Morales, Ruth, Belén Lledó, José A. Ortiz, Jorge Ten, Joaquin Llácer, and Rafael Bernabeu. "Chromosomal polymorphic variants increase aneuploidies in male gametes and embryos." Systems Biology in Reproductive Medicine 62, no. 5 (2016): 317–24. http://dx.doi.org/10.1080/19396368.2016.1212949.

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Liau, Joy, Lorene Romine, Lauren A. Korty, et al. "Simplifying the Ultrasound Findings of the Major Fetal Chromosomal Aneuploidies." Current Problems in Diagnostic Radiology 43, no. 6 (2014): 300–316. http://dx.doi.org/10.1067/j.cpradiol.2014.04.004.

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Dennis Lo, Y. M., and Rossa W. K. Chiu. "Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis." Clinical Chemistry 54, no. 3 (2008): 461–66. http://dx.doi.org/10.1373/clinchem.2007.100016.

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Abstract Background: The discovery of circulating cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. The potential application of this technology for the noninvasive prenatal detection of fetal chromosomal aneuploidies is an aspect of this field that is being actively investigated. The main challenge of work in this area is the fact that cell-free fetal nucleic acids represent only a minor fraction of the total nucleic acids in maternal plasma. Methods and Results: We performed a review of the literature, which revealed that inv

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Van, Steireghem AC, G. Pados, P. Devroey, M. Bonduelle, Assche E. Van, and I. Liebaers. "Oocyte Donation for Genetic Indications." Reproduction, Fertility and Development 4, no. 6 (1992): 681. http://dx.doi.org/10.1071/rd9920681.

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Oocyte donation is now a 'routine' treatment for infertility. Oocyte donation is mainly carried out in women with primary ovarian failure or premature menopause or in women in whom different regimens of ovarian stimulation prevent the development of ovarian follicles. In our Centres, oocyte donation is also offered to women or couples who prefer not to use their own gametes because of high recurrent risk of chromosomal or monogenic diseases. The resulting pregnancies in these women as well as in a series of women with gonadal dysgenesis due to X-chromosome aneuploidies are reported.

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Pertile, Mark D., Nicola Flowers, Darcy Vavrek, et al. "Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies." Clinical Chemistry 67, no. 9 (2021): 1210–19. http://dx.doi.org/10.1093/clinchem/hvab067.

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Abstract Background Noninvasive prenatal tests (NIPTs) detect fetal chromosomal anomalies with high clinical sensitivity and specificity. We examined the performance of a paired-end sequencing-based NIPT in the detection of genome-wide fetal chromosomal anomalies including common trisomies, sex chromosomal aneuploidies (SCA), rare autosomal aneuploidies (RAAs), and partial deletions/duplications ≥7 Mb. Methods Frozen plasma samples from pregnant women were tested using the VeriSeq NIPT Solution v2 assay. All samples were previously tested with a laboratory-developed NIPT and had known clinical

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Szczerbal, Izabela, and Marek Switonski. "Clinical Cytogenetics of the Dog: A Review." Animals 11, no. 4 (2021): 947. http://dx.doi.org/10.3390/ani11040947.

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The dog is an important companion animal and has been recognized as a model in biomedical research. Its karyotype is characterized by a high chromosome number (2n = 78) and by the presence of one-arm autosomes, which are mostly small in size. This makes the dog a difficult subject for cytogenetic studies. However, there are some chromosome abnormalities that can be easily identified, such as sex chromosome aneuploidies, XX/XY leukocyte chimerism, and centric fusions (Robertsonian translocations). Fluorescence in situ hybridization (FISH) with the use of whole-chromosome painting or locus-speci

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Gambardella, Stefano, Erika Ciabattoni, Francesca Motta, et al. "Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities." Genomics Insights 3 (January 2010): GEI.S3683. http://dx.doi.org/10.4137/gei.s3683.

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We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for telomeres, and for regions involved in common genomic diseases. In order to evaluate clinical diagnostic applicability of GOLDChip, analytical validity was carried-out via retrospective analysis of DNA iso

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Kogan, Igor Yu, Pavel P. Iakovlev, Alexander M. Gzgzyan, et al. "A preimplantation genetic testing of monogenic diseases. Description of clinical case." Journal of obstetrics and women's diseases 67, no. 1 (2018): 92–95. http://dx.doi.org/10.17816/jowd67192-95.

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Preimplantation genetic testing performed to analyze the chromosomal structural rearrangements, monogenic/single gene defects and aneuploidies. The aim of this study is to show the discussion of a clinical case of preimplantation genetic testing in the family of SMN1 gene mutation carriers with the subsequent birth of a healthy child.

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Wang, Leilei, Qian Meng, Xinxin Tang, et al. "Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing." Taiwanese Journal of Obstetrics and Gynecology 54, no. 5 (2015): 527–31. http://dx.doi.org/10.1016/j.tjog.2014.10.009.

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Yakin, K. "Certain forms of morphological anomalies of spermatozoa may reflect chromosomal aneuploidies." Human Reproduction 16, no. 8 (2001): 1779–80. http://dx.doi.org/10.1093/humrep/16.8.1779.

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Cuzzi, J. F., T. M. Vulcani-Freitas, A. Obradors, M. Rius, J. Navarro, and P. A. Hassun. "Preimplantation genetic diagnosis for chromosomal aneuploidies in embryos: CGH versus FISH." Fertility and Sterility 92, no. 3 (2009): S204. http://dx.doi.org/10.1016/j.fertnstert.2009.07.1456.

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Tekesin, Ismail. "The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities." Ultraschall in der Medizin - European Journal of Ultrasound 40, no. 06 (2018): 743–48. http://dx.doi.org/10.1055/a-0640-3148.

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Abstract Purpose To evaluate the performance of first-trimester ultrasound screening involving a detailed anomaly scan for the detection of trisomy 18, trisomy 13, triploidy, Turner syndrome and trisomy 21. Methods Data of pregnant women who underwent aneuploidy screening at 11–13 weeks of gestation was retrospectively analyzed. Crown-rump length (CRL), fetal nuchal translucency thickness (NT) and nasal bone (NB) anatomy, blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) were assessed. Furthermore, a detailed scan for fetal anatomical anomalies (FA) was carried out

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Pellestor, Franck, Petra Paulasova, Milan Macek, and Samir Hamamah. "The Use of Peptide Nucleic Acids for In Situ Identification of Human Chromosomes." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 395–400. http://dx.doi.org/10.1369/jhc.4r6399.2005.

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The peptide nucleic acids (PNAs) constitute a remarkable new class of synthetic nucleic acid analogues, based on their peptide-like backbone. This structure gives to PNAs the capacity to hybridize with high affinity and specificity to complementary RNA and DNA sequences and a great resistance to nucleases and proteinases. Originally conceived as ligands for the study of double-stranded DNA, the unique physicochemical properties of PNAs have led to the development of a large variety of research and diagnostic assays, including antigene and antisense therapy, genome mapping, and mutation detecti

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Tong, Yu K., Chunming Ding, Rossa WK Chiu, et al. "Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations." Clinical Chemistry 52, no. 12 (2006): 2194–202. http://dx.doi.org/10.1373/clinchem.2006.076851.

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Abstract Background: The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not been reported. We postulate that the aneuploidy status of a fetus could be revealed by an epigenetic allelic ratio approach, i.e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma. Methods: Placental-derived fetal-specific unmethyla

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Wang, Yanlin, Yan Chen, Feng Tian, et al. "Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing." Clinical Chemistry 60, no. 1 (2014): 251–59. http://dx.doi.org/10.1373/clinchem.2013.215145.

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Abstract BACKGROUND In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent as the common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 21, 18, and 13, because the sensitivity and specificity are markedly higher than for the sex chromosomes. Limited studies suggest that the reduced accuracy associated with detecting SCAs is due to confined placental, placental, or true fetal mosaicism. We hypothesized that an altered maternal karyotype may also be an important contributor to discordant SCA NIPT result

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Subramaniyam, Shivakumar, Susan Mathew, and VenkatR Pulijaal. "Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience." Journal of Human Reproductive Sciences 7, no. 4 (2014): 262. http://dx.doi.org/10.4103/0974-1208.147494.

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