Review
Pathology
Cechuan Deng, Sau Wai Cheung, Hongqian Liu
Summary: Sex chromosome aneuploidies (SCAs) are common chromosome abnormalities in humans, with manifestations including low fertility and delayed development. Noninvasive prenatal screening (NIPS) based on cell-free fetal DNA is increasingly used for screening. This review evaluated published studies on NIPS for SCAs to facilitate a comprehensive understanding and highlighted the potential of NIPS as a primary screening test for various chromosomal abnormalities.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2021)
Article
Genetics & Heredity
Xiaosha Jing, Hongqian Liu, Qian Zhu, Sha Liu, Jianlong Liu, Ting Bai, Cechuan Deng, Tianyu Xia, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Lin Chen, Lingping Li, Jiamin Wang
Summary: This study evaluated prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results. The results showed that QF-PCR can quickly and accurately identify common aneuploidies, and when combined with karyotyping and CNV detection techniques, can provide more comprehensive results. In cases of sex chromosome aneuploidy (SCA) or other abnormalities, CMA and CNVseq may increase the detection rate. The addition of fluorescence in situ hybridization assay may help identify true fetal mosaicism.
FRONTIERS IN GENETICS
(2022)
Article
Health Care Sciences & Services
Yanmei Lu, Shihao Zhou, Siyuan Linpeng, Siyi Ding, Shihong Li, Yujiao Li, Liangcheng Shi, Jun He, Yalan Liu
Summary: This study evaluated the effectiveness of non-invasive prenatal screening (NIPT) for detecting fetal sex chromosome abnormalities. The results showed that the positive predictive value (PPV) of NIPT was 45.37%, with higher accuracy in detecting sex chromosome polysomes compared to sex chromosome monomers. Furthermore, the study found an increase in the detection rate of fetal sex chromosome abnormalities in recent years, indicating the great efficiency of NIPT in this regard.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biotechnology & Applied Microbiology
Yanmei Luo, Huamei Hu, Rong Zhang, Yongyi Ma, Yan Pan, Yang Long, Bin Hu, Hong Yao, Zhiqing Liang
Summary: This study aimed to evaluate the efficacy of non-invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies (SCAs). The results showed that NIPT had lower accuracy in predicting monosomy X compared to sex chromosome trisomies, with higher termination rates for fetuses with 45,X and 47,XXY compared to 47,XXX and 47,XYY.
JOURNAL OF GENE MEDICINE
(2021)
Article
Genetics & Heredity
Tamara Mossfield, Erica Soster, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Monika Jurkowska, Pascale Kleinfinger, Kelly Loggenberg, Pablo Marchili, Roberto Sirica
Summary: This study retrospectively analyzed the clinical outcomes of cell-free DNA screening for rare autosomal aneuploidies, and found adverse pregnancy outcomes associated with the presence of such anomalies. The study also proposed suggestions for pregnancy management and counseling in these cases.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Nan Guo, Meiying Cai, Min Lin, Huili Xue, Hailong Huang, Liangpu Xu
Summary: Early and intermediate serological screening cannot detect sex chromosome abnormalities. Noninvasive prenatal testing (NIPT) is the only available procedure for screening such disorders. This study found that karyotype analysis and SNP array can improve the diagnostic accuracy for pregnant women with a positive NIPT result indicating sex chromosome abnormalities. The study also identified age-related differences in the positive predictive value.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Genetics & Heredity
Kimberly Martin, Pe ' er Dar, Cora MacPherson, Melissa Egbert, Zachary Demko, Sheetal Parmar, Katelyn Hashimoto, Sina Haeri, Fergal Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Noel Strong, Robert M. Silver, Nidhi Vohra, Jon Hyett, Matt Rabinowitz, Charlly Kao, Hakon Hakonarson, Bo Jacobsson, Mary E. Norton
Summary: This study aimed to evaluate the performance of cfDNA screening for sex chromosome aneuploidies in an unselected obstetrical population with genetic confirmation. The results showed that cfDNA had comparable performance for detecting sex chromosome aneuploidies as reported in other studies. The accuracy of fetal sex prediction by cfDNA was 100%.
GENETICS IN MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Evan Gatev, Amy M. Inkster, Gian Luca Negri, Chaini Konwar, Alexandre A. Lussier, Anne Skakkebaek, Marla B. Sokolowski, Claus H. Gravholt, Erin C. Dunn, Michael S. Kobor, Maria J. Aristizabal
Summary: Sex is an important modulator of health that has been historically overlooked in biomedical research; specific autosomal DNAm regions show consistent sex differences and are linked to health conditions; a predictor of sex based on DNAm data can achieve high accuracy.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Medicine, General & Internal
Ganye Zhao, Peng Dai, Conghui Wang, Lina Liu, Xuechao Zhao, Xiangdong Kong
Summary: This study evaluated the clinical performance of noninvasive prenatal testing (NIPT) for screening sex chromosome aneuploidies (SCAs) in singleton pregnancies in central China. The results showed that NIPT can be a useful method to screen SCAs, with a moderate positive predictive value for certain types of SCAs.
FRONTIERS IN MEDICINE
(2022)
Article
Obstetrics & Gynecology
Yunfang Shi, Xiaozhou Li, Duan Ju, Yan Li, Xiuling Zhang, Ying Zhang
Summary: The study found that NIPT has a positive predictive value of 43.40% in screening fetal sex chromosome aneuploidies, but there were cases of false positives caused by maternal karyotype abnormalities.
GYNECOLOGIC AND OBSTETRIC INVESTIGATION
(2021)
Article
Medicine, General & Internal
Xinwen Chen, Yifan Li, Qiuying Huang, Xingming Lin, Xudong Wang, Yafang Wang, Ying Liu, Qiushun He, Yinghua Liu, Ting Wang, Zhi-Liang Ji, Qingge Li
Summary: The study developed a computational program ChAPDes that automated the search, optimization, and design of primer/probe sets for SD sequences, providing a new approach for non-invasive prenatal screening of fetal chromosomal abnormalities. Through multiplex multicolour melting curve analysis and digital PCR technology, the method demonstrated high sensitivity and specificity in clinical trials.
Article
Obstetrics & Gynecology
Aaron W. W. Roberts, Melissa K. K. Maisenbacher, Sheetal Parmar, Julia Wilkinson, Sarah Poll, Nicole Faulkner, Siddharth K. K. Prakash
Summary: This study evaluated the patients' experience with counseling and follow-up diagnostic testing after noninvasive prenatal screening (NIPS) identifies a potential maternal sex chromosome aneuploidy (SCA). The results showed that although most patients received pretest counseling and were offered fetal genetic testing, the completion rate of diagnostic maternal testing was low, which may affect the health outcomes of some patients.
AMERICAN JOURNAL OF PERINATOLOGY
(2023)
Article
Pathology
Yanmei Luo, Bin Hu, Yang Long, Yan Pan, Lupin Jiang, Wei Xiong, Huanhuan Xu, Liang Xu, Dan Wang
Summary: This study evaluates the clinical efficiency of noninvasive prenatal testing (NIPT) for screening fetal chromosomal aneuploidy in twin pregnancies. The results show that NIPT is a highly sensitive and specific test for detecting fetal aneuploidy in twin pregnancies.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Acoustics
C. A. Samango-Sprouse, F. R. Grati, M. Brooks, M. P. Hamzik, K. Khaksari, A. Gropman, A. Taylor, F. Malvestiti, B. Grimi, R. Liuti, S. Milani, S. Chinetti, A. Trotta, C. Agrati, E. Repetti, K. A. Martin
Summary: This study investigates the evolution and frequency of invasive prenatal diagnostic testing and the detection of sex chromosome aneuploidy (SCA) in cell-free DNA (cfDNA) samples. The findings show a significant decrease in invasive procedures and an increase in prenatal SCA detection after the introduction of cfDNA screening in 2015. Rating: 7 points
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Medicine, General & Internal
Burak Durmaz, Hilmi Bolat, Zehra Cengisiz, Fuat Akercan, Tuba Sozen Turk, Erhan Pariltay, Asli Ece Solmaz, Mert Kazandi, Emin Karaca, Asude Durmaz, Ayca Aykut, Sermet Sagol, Haluk Akin, Ferda Ozkinay, Ozgur Cogulu
Summary: The study evaluated the demographic data, indications, and cytogenetic results of 9297 patients who underwent prenatal invasive genetic analysis in a University Medical Genetics Center over the past 20 years. Results showed a significant increase in the risk of trisomies 21, 13, and 18 with advanced maternal age, and significant differences in risk between different age groups. The findings provide insights for genetic counseling and development of more effective genetic strategies.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Feridun Akkafa, Ismail Koyuncu, Ebru Temiz, Hasan Dagli, Fuat Dilmec, Halit Akbas
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2018)
Meeting Abstract
Biotechnology & Applied Microbiology
Halit Akbas, Mahmut Balkan, Mahir Binici, Abdullah Gedik
JOURNAL OF BIOTECHNOLOGY
(2018)
Article
Endocrinology & Metabolism
Sevgi Irtegun-Kandemir, Irmak Icen-Taskin, Mehtap Bozkurt, Sevgi Kalkanli-Tas
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2019)
Article
Obstetrics & Gynecology
Halit Akbas, Suna Kahraman, Sibel Sak, Feridun Akkafa
JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2020)
Article
Urology & Nephrology
Bennur Esen, Tarik Sayin, Halit Akbas, Emel Saglam Gokmen, Ahmet Engin Atay, Saadet Pilten Guzel, Numan Gorgulu, Dilek Gogas Yavuz
CLINICAL NEPHROLOGY
(2020)
Article
Gastroenterology & Hepatology
Sevgi Kalkanli Tas, Duygu Kirkik, Alpaslan Tanoglu, Resul Kahraman, Kubra Ozturk, Muhammed Fevzi Esen, Mehmet Ender Coskunpinar, Eylem Cagiltay
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
(2020)
Review
Biology
Sevgi Kalkanli Tas, Merve Saide Uzunoglu, Aylin Seher Uzunoglu, Duygu Kirkik, Derya Altunkanat, Nevin Kalkanli
Summary: The COVID-19 pandemic has had a significant global impact, requiring extensive research into the immunology of the disease for the development of effective therapies. Adoptive T cell therapy and COVID-19 vaccines are promising approaches to address the virus and its impact on the immune system. This review provides an overview of the immunopathology of COVID-19 and discusses current treatment strategies, highlighting the emerging use of adoptive T cell therapy as a potential therapeutic approach against SARS-CoV-2 infection.
TURKISH JOURNAL OF BIOLOGY
(2022)
Article
Medicine, General & Internal
Sevgi Kalkanli Tas, Ender Coskunpinar, Pinar Yildiz, Mesut Bayraktaroglu, Tuba Kose, Derya Altunkanat, Duygu Kirkik, Mustafa Tukenmez
Summary: This study investigated the association between two variants of the miR-219-1 gene and NSCLC in the Turkish population. The results showed that these two variants were not related to NSCLC in this population.
AFRICAN HEALTH SCIENCES
(2022)
Article
Medicine, General & Internal
Mehmet Emirhan Isik, Ramazan Korkusuz, Gulcin Erdal Sahingoz, Arzu Cennet Isik, Ali Karagoz, Nilgun Isiksacan, Sevgi Kalkanli Tas, Kadriye Kart Yasar
Summary: In this study, it was found that serum PTX3 levels in patients hospitalized with COVID-19 were significantly increased at admission and showed significant association with disease severity.
ACTA CLINICA CROATICA
(2022)
Article
Biology
Arif Kalkanli, Duygu Kirkik, Emre Bostanci, Sevgi Kalkanli Tas
Summary: A study found a connection between TMPRSS2 and ACE2, as well as the important role of the AR gene in prostate cancer.
BRAZILIAN ARCHIVES OF BIOLOGY AND TECHNOLOGY
(2021)
Article
Medicine, General & Internal
Eylem Cagiltay, Sjaak Pouwels, Oytun Erbas, Dilek Taskiran, Sevgi Kalkanli Tas, Ismael Aslan
Summary: The study showed that metoprolol, pilocarpine, and diltiazem effectively prevented hypoglycemia-induced QTc prolongation in male rats when compared to insulin alone group.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Gastroenterology & Hepatology
Sevgi Kalkanli Tas, Duygu Kirkik, Kubra Ozturk, Alpaslan Tanoglu
TURKISH JOURNAL OF GASTROENTEROLOGY
(2020)
Article
Urology & Nephrology
Halit Akbas, Mahmut Balkan, Mahir Binici, Abdullah Gedik
Article
Obstetrics & Gynecology
Sibel Sak, Adnan Incebiyik, Nese Gul Hilali, Elif Agacayak, Hacer Uyanikoglu, Halit Akbas, Muhammet Erdal Sak
JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION
(2019)
Article
Biology
Sevgi Kalkanli Tas, Duygu Kirkik, Mehmet Emirhan Isik, Nevin Kalkanli, Aylin Seher Uzunoglu, Merve Saide Uzunoglu, Derya Altunkanat, Jalal Mohammed Mohammed Alragabi, Alpaslan Tanoglu
BRAZILIAN ARCHIVES OF BIOLOGY AND TECHNOLOGY
(2020)