TY  - JOUR
TI  - Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles
AB  - 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
AU  - Bisgin, Atil
AU  - tug bozdogan, sevcan
AU  - BUYUKKURT, SELIM
AU  - OZER, SINEM
DO  - 10.3906/sag-2004-298
PY  - 2021
JO  - Turkish Journal of Medical Sciences
VL  - 51
IS  - 2
SN  - 1300-0144
SP  - 657
EP  - 660
DB  - TRDizin
UR  - http://search/yayin/detay/483915
ER  -