• Title/Summary/Keyword: Aneuploidy

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Clinical outcomes of preimplantation genetic testing for aneuploidy in high-risk patients: A retrospective cohort study

  • Jun Woo Kim;So Young Lee;Chang Young Hur;Jin Ho Lim;Choon Keun Park
    • Clinical and Experimental Reproductive Medicine
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    • v.51 no.1
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    • pp.75-84
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    • 2024
  • Objective: The purpose of this study was to evaluate the impact of preimplantation genetic testing for aneuploidy (PGT-A) on clinical outcomes among high-risk patients. Methods: This retrospective study involved 1,368 patients and the same number of cycles, including 520 cycles with PGT-A and 848 cycles without PGT-A. The study participants comprised women of advanced maternal age (AMA) and those affected by recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or severe male factor infertility (SMF). Results: PGT-A was associated with significant improvements in the implantation rate (IR) and the ongoing pregnancy rate/live birth rate (OPR/LBR) per embryo transfer cycle in the AMA (39.3% vs. 16.2% [p<0.001] and 42.0% vs. 21.8% [p<0.001], respectively), RIF (41.7% vs. 22.0% [p<0.001] and 47.0% vs. 28.6% [p<0.001], respectively), and RPL (45.6% vs. 19.5% [p<0.001] and 49.1% vs. 24.2% [p<0.001], respectively) groups, as well as the IR in the SMF group (43.3% vs. 26.5%, p=0.011). Additionally, PGT-A was associated with lower overall incidence rates of early pregnancy loss in the AMA (16.7% vs. 34.3%, p=0.001) and RPL (16.7% vs. 50.0%, p<0.001) groups. However, the OPR/LBR per total cycle across all PGT-A groups did not significantly exceed that for the non-PGT-A groups. Conclusion: PGT-A demonstrated beneficial effects in high-risk patients. However, our findings indicate that these benefits are more pronounced in carefully selected candidates than in the entire high-risk patient population.

The Effect of Extremely Low Frequency Electromagnetic Fields on the Chromosomal Instability in Bleomycin Treated Fibroblast Cells (Bleomycin이 처리된 사람 섬유아세포에서 극저주파 전자기장의 효과)

  • Cho, Yoon-Hee;Kim, Yang-Jee;Lee, Joong-Won;Kim, Gye-Eun;Chung, Hai-Won
    • Journal of Radiation Protection and Research
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    • v.33 no.4
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    • pp.161-166
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    • 2008
  • In order to determine the effect of extremely low frequency electromagnetic fields (ELF-EMF) on the frequency of micronuclei (MN), aneuploidy and chromosomal rearrangement induced by bleomycin (BLM) in human fibroblast cells, a 60 Hz ELF-EMF of 0.8 mT field strength was applied either alone or with ELM throughout the culture period and a micronucleus-centromere assay was performed. Our results indicate that the frequencies of MN, aneuploidy and chromosomal rearrangement induced by ELM increased in a dose-dependent manner. The exposure of cells to 0.8 mT ELF-EMF followed by ELM exposure for 3 hours led to significant increases in the frequencies of MN and aneuploidy compared to BLM treatment for 3 hours alone (p<0.05), but no significant difference was observed between field exposed and sham exposed control cells. The obtained results suggest that low density ELF-EMF could act as an enhancer of the initiation process of BLM rather than as an initiator of mutagenic effects in human fibroblast.

Relationship between DNA ploidy and Survival Time in Small Cell Lung Cancer (소세포 폐암에서 DNA 배수성과 생존 기간과의 관계)

  • Song, Joong-Ho;Yang, Se-Hoon;Jung, Byung-Hak;Jeong, Eun-Taik
    • Tuberculosis and Respiratory Diseases
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    • v.42 no.3
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    • pp.314-321
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    • 1995
  • Background: Flow cytometric study has been used to measure the DNA content of solid tumors for the last decade. DNA ploidy is an important property commonly measured by flow cytometry. The possibility to study archival paraffin-embedded tumors has hastened an appreciation of prognostic utility of this method. The aim of this study is to look for biologic prognostic indicator for survival time of patients with small cell carcinoma of lung in addition to the well known clinical prognostic factors. Method: DNA ploidy was measured by flow cytometric method using tumor cells isolated from paraffin embedded tissue. To evaluate the prognostic significance, DNA ploidy of small cell lung cancer was analysed in 42 patients who died after receiving anticancer chemotherapy. Results: 1) Mean survival time of all patients was 190(${\pm}156$) days. Survival time was shortened, when TNM stage and PS scale were advanced. 2) 62% of all patients was DNA aneuploidy. DNA ploidy had nothing to do with advance of TNM stage and PS scale. 3) Mean survival time of aneuploid tumor was significantly shorter($138{\pm}90$ days) than that of diploid tumors($272{\pm}197$ days).(p<0.001) 4) To exclude the influence of clinical prognostic factors such as TNM stage and PS scale, the analysis was restricted to subgroups of identical stage. We were able to find the same tendency. Conclusion: DNA ploidy is an independent prognostic factor in small cell lung cancer.

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Prenatal Aneuploidy Detection in Uncultured Amniotic Fluid Interphase Cells by Fluorescence in situ Hybridization (FISH) (형광직접보합법을 이용한 미배양 양수세포에서 산전 이수배수체 확인)

  • Seol, Hye-Won;Ko, Hee-Jung;Song, Nam-Hee;Kim, Sook-Ryoung;Lee, Hwa-Jin;Oh, Sun-Kyung;Park, Joong-Shin;Jun, Jong-Kwan;Yoon, Bo-Hyun;Syn, Hee-Chul;Moon, Shin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.30 no.3
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    • pp.223-231
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    • 2003
  • Objective: The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy. Methods: We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared. Results: There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Conclusion: Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.

Assessment of DNA Ploidy Patterns in Connection with Prognostic Factors in Patients with Papillary Thyroid Carcinoma (유두상 갑상선암에서 예후인자와 DNA배수성의 상관관계)

  • Chung Woung-Youn;Lee Jong-Hoon;Park Cheong-Soo
    • Korean Journal of Head & Neck Oncology
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    • v.12 no.2
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    • pp.153-160
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    • 1996
  • Regardless of the prognostic factors in papillary thyroid cancer, such as sex, age, size of tumor, extent of disease, and distant metastasis, the prognosis of papillary thyroid cancer is sometimes difficult to predict from clinical and microscopic analysis alone and additional prognostic indicators are needed. Recent studies of thyroid cancer have indicated that DNA aneuploidy may be correlated to the biological behavior of malignancy and inversely correlated to the prognosis, but it still remains contraversal. We performed this study to assess DNA ploidy patterns in relation with the previously known prognostic factors in AMES scoring system and lateral neck node metastasis in papillary thyroid cancer. A series of 132 patients with papillary thyroid cancer and 80 patients with benign thyroid tumor(27 follicular adenomas and 53 adenomatous goiters) as a control group from October 1993 to Feburary 1995 were analyzed and their nuclear DNA content was measured with flow cytometry using fresh tissue specimens. DNA aneuploidy was found in 8(6.1%) in papillary cancer and 8(10%) in benign tumor. S-phase traction(SFP) and proliferative index(PI) were higher in thyroid cancers, being 2.18$\pm$4.24%, 6.34$\pm$4.94% in the papillary thyroid cancers and 1.97$\pm$2.93%, 4.44$\pm$3.80% in the benign tumors, respectively. However there was no significant difference of values between two groups(p>0.05). Among variable prognostic factors studied(age, sex, size of tun or, extent of disease, distant metastasis in AMES scoring system and lateral neck node metastasis), DNA aneuploidy was found to be common in distant metastasis(p<0.001) and in lateral neck node metastasis(p>0.035), but there was no significant difference between the high risk and low risk group according to the AMES scoring system(p<0.08). In our study, DNA aneuploidy was not valuable in determining the presence of malignancy and did not correlate to the AMES scoring system. However, follow-up study of more cases will be needed for accurate information about the DNA ploidy as a independent prognostic factor.

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Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

  • Kim, Soo Hyun;Kim, Kun Woo;Han, You Jung;Lee, Seung Mi;Lee, Mi-Young;Shim, Jae-Yoon;Cho, Geum Joon;Lee, Joon Ho;Oh, Soo-young;Kwon, Han-Sung;Cha, Dong Hyun;Ryu, Hyun Mee
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.72-78
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    • 2018
  • Purpose: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for fetal aneuploidy including non-invasive prenatal testing (NIPT) in South Korea. Materials and Methods: Questionnaires were distributed and collected at several obstetrics-gynecological conferences and meetings. The questionnaire included 31 multiple choice and 5 fill-in-the-blank questions. Seven questions requested physicians' demographic information, 17 questions requested information about the NIPT with cell-free fetal DNA, and 12 questions requested information about general prenatal screening practices. Results: Of the 203 obstetricians that completed the survey. In contrast with professional guidelines recommending the universal offering of aneuploidy screening, only 53.7% answered that prenatal aneuploidy testing (screening and/or invasive diagnostic testing) should be offered to all pregnant women. Physicians tended to have positive attitudes toward the clinical application of NIPT as both primary and secondary screening methods for patients at high-risk for fetal trisomy. However, for patients at average-risk for fetal trisomy, physicians tended to have positive attitudes only as a secondary screening method. Physicians with more knowledge about NIPT were found to tend to inform their patients that the detection rate of NIPT is higher. Conclusion: This is the first study to investigate expert opinion on prenatal screening in South Korea. Education of physicians is essential to ensure responsible patient counseling, informed consent, and appropriate management after NIPT.

Study on the Analysis of Chromosome Abnormality by Flow Cytometric and Cytogenetic Methods (유식세포분리기와 세포유전학적 방법에 의한 염색체이상 분석에 관한 연구)

  • Baik, C.S.;Kim, M.K.;Lee, S.M.;Kim, J.H.;Baik, Y.K.;Lee, H.T.;Chung, K.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.23 no.1
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    • pp.73-79
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    • 1996
  • 골수나 유산물질에 대한 세포유전학적 검사에 있어 통상적인 염색체검사는 검사에 적합한 중기핵상을 얻기 어려워 실패하는 경우가 많다. 이러한 경우에 진단이나 치료에 도움을 줄 수 있는 방법으로 유식세포분리기를 사용하여 단일 세포내 DNA량에 따른 aneuploidy를 추적할 수 있는 가를 확인하기 위해 본 실험을 실시하였다. 79 (혈액 30, 골수 37, 유산물 12)예에서 염색체 검사와 유식세포 분리검사를 동시에 실시하여 각각의 결과를 비교한 결과 79.7% (63/79)의 일치율을 얻었다. 그러나 염색체의 손실이 없는 전좌와 역위의 경우는 물론 작은 조각의 염색체 부분이 늘어나거나 줄어든 경우에 있어서는 유식세포분리방법에 의해서 추적되지 못하였지만, 염색체 검사의 결과를 얻는데 실패한 경우에는 유식세포분리방법이 DNA량의 변화에 대한 정보를 얻을 수 있다는 것을 확인할 수 있었다. 따라서 본 연구결과는 세포유전학적 검사에서 유식세포분리방법이 염색체 검사보다 신속하며 염색체검사가 불가능한 시료에서도 DNA양에 따른 aneuploidy의 추적이 가능하다는 것을 시사한다.

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Chromosomal Variation among Brown Planthopper, Nilaparvata lugens (Stal), Biotypes in Korea (한국산 벼멸구 생태형의 염색체 변이)

  • ;R.C. Saxena;A.A. Barrion
    • Korean journal of applied entomology
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    • v.31 no.4
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    • pp.366-370
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    • 1992
  • Salient chromosomal variations during the first meiotic division in primary spermatocyLes of the three brown planthopper, Nilaparvata lugens (Stal) , biotypes were observed. The meiotic index was highest in biotype 3 (58.6), followed by biotype 1 (39.4) and biotype 2 (23.6). Total chromosomal aberration including agmatoploidy, aneuploidy, loose pairings of sex chromosomes, and cytoplasmic shrinkage was found high in the order of biotype 1 (60.6%),2 (47.9 %), and 3 (38.1 %). However, percent agmatoploidy was highest in biotype 2 (19.6%) whereas in biotypes 3 and 1, it was 9.5% and 2.5%, respectively. The number of cells with isolated sex chrosomomes was observed highest in biotype 2.

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Meiotic chromosome numbers of five Carex taxa in Korea (Cyperaceae)

  • CHUNG, Kyong-Sook;IM, Hyoung-Tak
    • Korean Journal of Plant Taxonomy
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    • v.48 no.3
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    • pp.201-205
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    • 2018
  • Carex L. (Cyperaceae) is the largest angiosperm genus in the temperate zones with more than 2,000 species worldwide. Unusual chromosome structures, called holocentric chromosomes, have been postulated to contribute to species diversity in the genus. In Korea, this genus has the greatest number of species, but chromosome information as it pertains to the taxa is mostly unknown. Here, we report meiotic chromosome numbers of five Carex taxa in Korea. The following observations are made: Carex jaluensis Kom. ($n=27_{II}$, $28_{II}$, $29_{II}$, $30_{II}$), C. japonica Thunb. ($n=28_{II}$, $29_{II}$), C. planiculmis Kom. ($n=30_{II}$), C. miyabei Franch. ($n=33_{II}$, $36_{II}$), C. neurocarpa Maxim. ($n=51_{II}$, $53_{II}$, $54_{II}$). Except for C. planiculmis, all of the species exhibit variations in chromosome numbers within individuals and/or taxa. The findings with regard to chromosome number diversity in Carex suggest that chromosome number variation (aneuploidy, agmatoploidy and/or symploidy) plays an important role in the richness of the species in the genus. Further cytological investigations are needed for a better understanding of sedge diversity in Korean flora.

Karyomorphological Studies on the Genus Spirogyra Link (Conjugales, Chlorophyta) from Korea

  • Kim, Jee-Hwan;Chaudhary, B.R.;Kim, Young-Hwan;Lee, In-Kyu
    • Korean Journal of Ecology and Environment
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    • v.42 no.2
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    • pp.192-199
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    • 2009
  • Freshwater green algae are one of the important sources of bioenergy in the future. Spirogyra is a conjugating filamentous zygnematacean green algal genus that is widely distributed worldwide with more than 400 species. Despite its widespread occurrence throughout the world, cytological studies of the genus have been limited. We investigated karyological features and chromosome numbers for seven Korean Spirogyra species. Most of the species examined in the present study showed significant karyological features, inner organization of nucleolus, heavily stainable nucleolar substance and the diffuse-centric nature of chromosomes, typical of the Conjugales. Chromosome number ranged from n=12 in S. varians to n=38 in S. africana. Aberrant cytokinesis resulted in binucleate and tetranucleate cells, which sometimes provide cytological explanation for different morphology and ploidal changes in clonal culture of Spirogyra or even different cells within the same filament. The present chromosome data also substantiates the earlier held assumption that aneuploidy must have been the chief driving force for speciation and evolution of the genus Spirogyra.