المؤلفون: E. Baranova E., G. Zobkova Yu., V. Izhevskaya L., Е. Баранова Е., Г. Зобкова Ю., В. Ижевская Л.

المصدر: Medical Genetics; Том 19, № 11 (2020); 39-46 ; Медицинская генетика; Том 19, № 11 (2020); 39-46 ; 2073-7998

مصطلحات موضوعية: genetic counseling, opportunistic screening, ethical issues, questionnaires, WGS, медико-генетическое консультирование, оппортунистический скрининг, этические проблемы, анкетирование, полногеномное секвенирование

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1794/1427; Green R.C., Berg J.S., Grody W.W. et al. American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013; 15: 565-574.; ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med. 2015; 17: 68-69.; Kalia S.S., Adelman K., Bale S.J. et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017; 19: 249-255.; The recommendations of the European Society of Human Genetics on Whole Genome Sequencing in the European Journal of Human Genetics 2013; 21: 580-584. doi:10.1038/ejhg.2013.46; Abul-Husn N.S., Manickam K., Jones L.K., Wright E.A., Hartzel D.N., Gonzaga-Jauregui C., et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23;354(6319):aaf7000. doi:10.1126/science.aaf7000; Perkins B.A., Caskey C.T, Brar P., et al. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults. Proc Natl Acad Sci U S A. 2018;115(14):3686-3691. doi:10.1073/pnas.1706096114; Committee on Bioethics, Committee on Genetics, and the American College on Medical Genetics and Genomics Social, Ethical, and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131(3):620-622; Bredenoord A.L., de Vries M.C., van Delden H. The right to an open future concerning genetic information. Am J Bioeth. 2014;14(3):21-23.; Frankel L.A., Pereira S., McGuire A.L. Potential psychosocial risks of sequencing newborns. Pediatrics. 2016;137(suppl 1):S24-S29.; ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012; 14: 759-761; Best S., Wou K., Vora N., et al. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2017 Jan;38(1):10-19; Hillman S.C., Willams D., Carss K.J, et al. Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2015;45(1):4-9.; Ижевская В.Л., Иванов В.И. Медико-генетическое консультирование в России: предпочтение директивного подхода. Медицинская генетика. 2004;.3(11): 521-528; Ижевская В.Л. Динамика этических установок российских медицинских генетиков Человек. 2006; 4: 78-83; Wertz D.C. Ethical views of European and Non-European Geneticists: Results of an International Survey. Report to European Society of Human Genetics, Berlin, May 24, 1995.; Cousens N. E., Gaff C. L., Metcalfe S. A., Delatycki M. B. (2010). Carrier screening for beta-thalassemia: a review of international practice. European journal of human genetics: EJHG, 18(10), 1077-1083. doi:10.1038/ejhg.2010.90; American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(4):1028-1031. doi:10.1097/AOG.0b013e31821922c2; Castellani C., Macek M. Jr, Cassiman J.J. et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros. 2010;9(3):165-178. doi:10.1016/j.jcf.2010.02.005; Мифология века НТР: утопии, мифы, надежды и реальность новейших направлений науки. От Франкенштейна и эликсира бессмертия до «биокиборгов» и «постчеловека». Отв.ред. Г.Л.Белкина. Ред.-сост. М.И. Фролова.-М.:ЛЕНАНД, 2020.-448 с.; Borry P., Goffin T., Nys H., Dierickx K.: Attitudes regarding carrier testing in incompetent children. A survey of European clinical geneticists. Eur J Hum Genet. 2007; 15: 1211 - 1217; Ross L., Saal H., David K. et al. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med. 2013; 15: 234-245 doi:10.1038/gim.2012.176; Borry P., Evers-Kiebooms G., Cornel M.C., Clarke A., Dierickx K., et al. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet. 2009; 17 (6):711-719. doi:10.1038/ejhg.2009.25.; Cao A., Rosatelli M.C., Monni G., Galanello R. Screening for thalassemia: a model of success. Obstet Gynecol Clin North Am 2002; 29: 305-vii.; ACOG Committee on Obstetrics ACOG Practice Bulletin No. 78: Hemoglobinopathies in pregnancy. Obstet. Gynecol. 2007;109:229-237. doi:10.1097/00006250-200701000-00055.; Henneman L., Borry P., Chokoshvili D., et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24:e1-e12.; Genetic Testing Protocol for Huntington’s Disease. Huntington’s Disease Society of America. 2016 http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf; Anderson К.E, Elberly S., Marder K S. The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study. Clinical Genetics. 2019; 96: 28-34; Borry P., Stultiens L., Nys H., Cassiman J.J., Dierickx K. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006; 70:374 - 381.; Borry P., Schotsmans P., Fryns J.P., Dierickx K. Carrier testing in minors: a systematic review of guidelines and positions statements. Eur J Hum Genet 2006; 14: 133 - 138; Danish Council of Ethics: Genetic Investigation of Healthy Subjects. Report on Presymptomatic Gene Diagnosis. http://www.etiskraad.dk/sw293.asp, 2001; https://www.medgen-journal.ru/jour/article/view/1794

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1794
https://doi.org/10.25557/2073-7998.2020.11.39-46

المؤلفون: G. Zobkova Yu., E. Baranova E., N. Demikova S., A. Donnikov E., N. Podzolkova M., Г. Зобкова Ю., Е. Баранова Е., Н. Демикова С., А. Донников Е., Н. Подзолкова М.

المصدر: Medical Genetics; Том 18, № 9 (2019); 19-23 ; Медицинская генетика; Том 18, № 9 (2019); 19-23 ; 2073-7998

مصطلحات موضوعية: носительство генов наследственных заболеваний, генетический риск, скрининг, carrier testing, genetic risk, screening

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/719/444; https://www.medgen-journal.ru/jour/article/view/719

الاتاحة: https://www.medgen-journal.ru/jour/article/view/719
https://doi.org/10.25557/2073-7998.2019.09.19-23

المؤلفون: G. Zobkova Yu., E. Baranova E., V. Izhevskaya L., Г. Зобкова Ю., Е. Баранова Е., В. Ижевская Л.

المصدر: Medical Genetics; Том 19, № 8 (2020); 15-16 ; Медицинская генетика; Том 19, № 8 (2020); 15-16 ; 2073-7998

مصطلحات موضوعية: genetic counseling, directiveness, ethical issues, медико-генетическое консультирование, директивность, этические проблемы

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1662/1298; https://www.medgen-journal.ru/jour/article/view/1662

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1662

المؤلفون: E. Baranova E., E. Zayaeva E., L. Zhuchenko A., S. Shchelykalina P., V. Izhevskaya L., Е. Баранова Е., Е. Заяева Е., Л. Жученко А., С. Щелыкалина П., В. Ижевская Л.

المصدر: Medical Genetics; Том 19, № 3 (2020); 74-75 ; Медицинская генетика; Том 19, № 3 (2020); 74-75 ; 2073-7998

مصطلحات موضوعية: анкетирование, пренатальный скрининг, НИПТ, questionnaire, prenatal screening, NIPT

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/839/511; https://www.medgen-journal.ru/jour/article/view/839

الاتاحة: https://www.medgen-journal.ru/jour/article/view/839
https://doi.org/10.25557/2073-7998.2020.03.74-75

المؤلفون: E. Zaiaeva E., E. Baranova E., L. Zhuchenko A., L. Ivanova Yu., V. Izhevskaya L., Е. Заяева Е., Е. Баранова Е., Л. Жученко А., Л. Иванова Ю., В. Ижевская Л.

المصدر: Medical Genetics; Том 18, № 6 (2019); 3-10 ; Медицинская генетика; Том 18, № 6 (2019); 3-10 ; 2073-7998

مصطلحات موضوعية: неинвазивный пренатальный тест, синдром Дауна, эксперимент с дискретным выбором, non-invasive prenatal test, Down syndrome, discrete choice experiment

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/689/424; https://www.medgen-journal.ru/jour/article/view/689

الاتاحة: https://www.medgen-journal.ru/jour/article/view/689
https://doi.org/10.25557/2073-7998.2019.06.3-10

المؤلفون: E. Baranova E., M. Belenikin S., L. Zhuchenko A., V. Izhevskaya L., Е. Баранова Е., М. Беленикин С., Л. Жученко А., В. Ижевская Л.

المصدر: Medical Genetics; Том 16, № 8 (2017); 3-10 ; Медицинская генетика; Том 16, № 8 (2017); 3-10 ; 2073-7998

مصطلحات موضوعية: неинвазивный пренатальный тест, внеклеточная ДНК (вкДНК), рекомендации, non-invasive prenatal test, cell-free DNA (cfDNA), ACMG recommendation

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/314/230; Жученко ЛА, Андреева ЕН, Калашникова ЕА. Основные итоги и современное состояние программы комбинированного пренатального скрининга 1 триместра беременности в Российской Федерации. Журнал акушерства и женских болезней. 2013. LXII(3):20-25.; Курцер МА, Гнетецкая ВА. Диагностика хромосомных анеуплодий с помощью неинвазивного пренатального теста. Акушерство и гинекология. 2015. 8:65-69.; Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997. 350(9076):485-7.; Benachi A and Costa JM. Non-invasive prenatal diagnosis of fetal aneuploidies. Lancet. 2007. 369(9560):440-2.; Dhallan R, Guo X, Emche S et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet. 2007. 369(9560):474-81.; Lo YM. and Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet. 2007. 8(1):71-7.; Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002. 42(8):1079-85.; Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA. 2008. 105(42):16266-71.; Kinnings SL, Geis JA, Almasri E, et al. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing. Prenat Diagn. 2015. 35(8):816-22.; Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013. 15(5):395-8.; Wataganara T, Chen AY, LeShane ES, et al. Cell-free fetal DNA levels in maternal plasma after elective first-trimester termination of pregnancy. Fertil Steril. 2004. 81(3):638-44.; Ashoor G, Syngelaki A, Poon LC, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2012. 41(1):26-32.; Krishna I, Badell M, Loucks TL, et al. Adverse perinatal outcomes are more frequent in pregnancies with a low fetal fraction result on noninvasive prenatal testing. Prenat Diagn. 2016. 36(3):210-5.; Thurik FF, Lamain-de Ruiter M, Javadi A, et al. Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenat Diagn. 2016. 36(12):1104-11.; Lim JH, Kim MH, Han YJ, et al. Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy. PLoS One. 2013. 8(2):e56787.; Gregg AR, Skotko BG, Benkendorf JL et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016. 18(10):1056-65.; Smith M, Lewis KM, Holmes A, Visootsak J. A Case of False Negative NIPT for Down Syndrome-Lessons Learned. Case Rep Genet. 2014. 2014:823504.; Ashoor G, Syngelaki A, Wang E, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013. 41(1):21-5.; Наследственные болезни: национальное руководство : краткое издание / под ред. Е.К. Гинтера, В.П. Пузырева. - М: ГЭОТАР-Медиа, 2017. - 464 с; Pan Q, Sun B, Huang X, et al. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. Mol Cytogenet. 2014. 7:48.; Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 370(9):799-808.; Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol. 2013. 209(5):415-9.; Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med. 2015. 17(3):234-6.; Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014. 211(5):527.e1-527.e17.; Zhang H, Gao Y, Jiang F, et al. Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies. Ultrasound Obstet Gynecol. 2015 May;45(5):530-8.; Colosi E, D’Ambrosio V, and Periti E. First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public health system? J Matern Fetal Neonatal Med. 2017 Jan 4:1-6.; Gil MM, Revello R, Poon LC, et al. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol. 2016 Jan; 47(1)45-52.; Sonek JD. and Cuckle HS. What will be the role of first-trimester ultrasound if cell-free DNA screening for aneuploidy becomes routine? Ultrasound Obstet Gynecol. 2014. 44(6):621-30.; Wang L, Meng Q, Tang X, et al. Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Taiwan J Obstet Gynecol. 2015. 54(5):527-31.; Vanstone M, King C, de Vrijer B, Nisker J. Non-invasive prenatal testing: ethics and policy considerations. J Obstet Gynaecol Can. 2014. 36(6):515-26.; Медведев МВ, Алтынник НА. Основы ультразвукового скрининга в 11-14 недель беременности: практическое пособие для врачей. 2009. 2-е изд., доп. - М.: Реал Тайм: 96 с.; Cheung SW, Shaw CA, Yu W, et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005. 7(6):422-32.; Munne S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr Genomics. 2012. 13(6):463-70.; Liu H, Gao Y, Hu Z, et al. Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA. PLoS One. 2016. 11(7):e0159233.; Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem. 2012. 58(7):1148-51.; Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013 Feb 7;92(2):167-76.; Yu SC, Jiang P, Choy KW, et al., Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013 Apr 17;8(4):e60968.; Brison N, Van Den Bogaert K, Dehaspe L, et al. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. Genet Med. 2017 Mar;19(3):306-313.; Lun FM, Chiu RW, Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem. 2008. 54(10):1664-72.; Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000. 46(2):301-2.; Saito H, Sekizawa A, Morimoto T. et al. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000. 356(9236):1170.; Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn. 2003. 23(3):232-4.; van den Oever JM, Bijlsma EK, Feenstra I, et al. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenat Diagn. 2015. 35(10):945-9.; Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, et al., Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study. Eur J Neurol. 2008. 15(12):1338-44.; Chiu RW, Lau TK, Leung TN, et al. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet. 2002. 360(9338):998-1000.; Ding C., Chiu RW, Lau TK, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA. 2004. 101(29):10762-7.; Chang MY, Kim AR, Kim MY, et al. Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital. Sci Rep. 2016 Dec 7;6:37153.; Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015. 23(11):1438-50.; Van den Berg M, Timmermans DRM, ten Kate LP et al. Are pregnant women making informed choices about prenatal screening? Genet. Med. 2005. V. 7. P.332-337; Stapleton G. Qualifying choice: ethical reflection on the scope of prenatal screening. Med Health Care Philos. 2016 Sep 8.; De Jong A, Maya I, and van Lith JM. Prenatal screening: current practice, new developments, ethical challenges. Bioethics. 2015. 29(1):1-8.; Hill M, Johnson JA, Langlois S, et al. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet. 2016. 24(7):968-75.; Neyt M, Hulstaert F, and Gyselaers W. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis. BMJ Open. 2014. 4(11):e005922.; Сухих ГТ, Трофимов ДЮ, Барков ИЮ и др. Неинвазивный пренатальный ДНК-скрининг анеуплоидий плода по крови матери методом высокопроизводительного секвенирования (Клинические рекомендации). Акушерство и гинекология, 2016. №6.; https://www.medgen-journal.ru/jour/article/view/314

الاتاحة: https://www.medgen-journal.ru/jour/article/view/314

المؤلفون: E. Baranova E., L. Ivanova Yu., I. Zhuravleva V., V. Izhevskaya L., E. Ginter K., Е. Баранова Е., Л. Иванова Ю., И. Журавлева В., В. Ижевская Л., Е. Гинтер К.

المصدر: Medical Genetics; Том 14, № 5 (2015); 3-7 ; Медицинская генетика; Том 14, № 5 (2015); 3-7 ; 2073-7998

مصطلحات موضوعية: genetic counseling, psychological approach, estimation of the efficiency, медико-генетическое консультирование, психологический подход, оценка эффективности

وصف الملف: application/pdf

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الاتاحة: https://www.medgen-journal.ru/jour/article/view/12
https://doi.org/10.1234/XXXX-XXXX-2015-5-3-7