Yıl: 2021 Cilt: 51 Sayı: 2 Sayfa Aralığı: 657 - 660 Metin Dili: İngilizce DOI: 10.3906/sag-2004-298 İndeks Tarihi: 21-01-2022

Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Öz:
Background/aim: The aim of this study was to summarize the experiences of a single medical center for genetic diagnosis and treatment of prenatal patients. Materials and methods: This study includes a retrospective data analysis of 2843 prenatally investigated cases using invasive methods during a 6-year period (2013–2019) at a single tertiary care center. Results: Chromosomal abnormalities were detected in 80 out of 1221 amniotic fluid samples;,178 out of 1608 chorionic villus samples, and 1 out of 14 cordocentesis samples. The most common chromosomal abnormality was trisomy 21. At least one mutation was detected in 63 of the 152 molecular tests performed on fetuses. Conclusion: Clinical procedures such as ultrasounds and genetic tests are able to provide a better clinical follow-up for pregnant women about the possible congenital anomalies or any genetic condition, with proper genetic counseling and testing methodology.Key words: Prenatal diagnosis, cytogenetics, molecular testing, molecular cytogenetics, genetic counseling
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Chen Y, Bartanus J, Liang D, Zhu H, Breman AM et al. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Human Mutation 2017; 38 (6): 669-677. doi: 10.1002/humu.23207
  • 2. Driscoll DA, Gross SJ. First trimester diagnosis and screening for fetal aneuploidy. Genetics in Medicine 2008; 10 (1): 73‐75. doi: 10.1097/GIM.0b013e31815efde8
  • 3. Hastings R, Howell R, Bricarelli FD, Kristoffersson U, Cavani S. General guidelines and quality assurance for cytogenetics. European Cytogeneticists Association Newsletter 2012; 29: 7-25.
  • 4. Genetic counseling. American Journal of Human Genetics 1975; 27: 240-242.
  • 5. Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors. Journal of Genetic Counseling 201; 20 (5): 432-441. doi: 10.1007/s10897-011-9375-8
  • 6. Allen JF, Stoll K, Bernhardt BA. Pre- and post-test genetic counseling for chromosomal and Mendelian disorders. Seminars in Perinatology 2016; 40 (1): 44-55. doi: 10.1053/j. semperi.2015.11.007
  • 7. Danisman N, Kahyaoglu S, Celen S, Kahyaoglu I, Candemir Z et al. A retrospective analysis of amniocenteses performed for advanced maternal age and various other indications in Turkish women. The Journal of Maternal-Fetal and Neonatal Medicine 2013; 26 (3): 242-245. doi: 10.3109/14767058.2012.733756
  • 8. Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M. Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases. The Journal of Obstetrics and Gynaecology Research 2014; 40 (1): 139-146. doi: 10.1111/ jog.12144
  • 9. Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. Journal of Medical Genetics 1992; 29 (2): 103-108. doi: 10.1136/jmg.29.2.103
  • 10. Thiboonboon K, Kulpeng W, Teerawattananon Y. An economic analysis of chromosome testing in couples with children who have structural chromosome abnormalities. Public Library of Science One 2018; 13 (6): e0199318. doi: 10.1371/journal. pone.0199318
APA tug bozdogan s, BUYUKKURT S, OZER S, Bisgin A (2021). Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. , 657 - 660. 10.3906/sag-2004-298
Chicago tug bozdogan sevcan,BUYUKKURT SELIM,OZER SINEM,Bisgin Atil Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. (2021): 657 - 660. 10.3906/sag-2004-298
MLA tug bozdogan sevcan,BUYUKKURT SELIM,OZER SINEM,Bisgin Atil Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. , 2021, ss.657 - 660. 10.3906/sag-2004-298
AMA tug bozdogan s,BUYUKKURT S,OZER S,Bisgin A Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. . 2021; 657 - 660. 10.3906/sag-2004-298
Vancouver tug bozdogan s,BUYUKKURT S,OZER S,Bisgin A Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. . 2021; 657 - 660. 10.3906/sag-2004-298
IEEE tug bozdogan s,BUYUKKURT S,OZER S,Bisgin A "Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles." , ss.657 - 660, 2021. 10.3906/sag-2004-298
ISNAD tug bozdogan, sevcan vd. "Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles". (2021), 657-660. https://doi.org/10.3906/sag-2004-298
APA tug bozdogan s, BUYUKKURT S, OZER S, Bisgin A (2021). Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. Turkish Journal of Medical Sciences, 51(2), 657 - 660. 10.3906/sag-2004-298
Chicago tug bozdogan sevcan,BUYUKKURT SELIM,OZER SINEM,Bisgin Atil Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. Turkish Journal of Medical Sciences 51, no.2 (2021): 657 - 660. 10.3906/sag-2004-298
MLA tug bozdogan sevcan,BUYUKKURT SELIM,OZER SINEM,Bisgin Atil Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. Turkish Journal of Medical Sciences, vol.51, no.2, 2021, ss.657 - 660. 10.3906/sag-2004-298
AMA tug bozdogan s,BUYUKKURT S,OZER S,Bisgin A Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. Turkish Journal of Medical Sciences. 2021; 51(2): 657 - 660. 10.3906/sag-2004-298
Vancouver tug bozdogan s,BUYUKKURT S,OZER S,Bisgin A Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles. Turkish Journal of Medical Sciences. 2021; 51(2): 657 - 660. 10.3906/sag-2004-298
IEEE tug bozdogan s,BUYUKKURT S,OZER S,Bisgin A "Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles." Turkish Journal of Medical Sciences, 51, ss.657 - 660, 2021. 10.3906/sag-2004-298
ISNAD tug bozdogan, sevcan vd. "Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles". Turkish Journal of Medical Sciences 51/2 (2021), 657-660. https://doi.org/10.3906/sag-2004-298