Turkish Journal of Medical Sciences
Abstract
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.
DOI
10.3906/sag-2004-298
Keywords
Prenatal diagnosis, cytogenetics, molecular testing, molecular cytogenetics, genetic counseling
First Page
657
Last Page
660
Recommended Citation
BOZDOĞAN, S. T, BÜYÜKKURT, S, ÖZER, S, & BİŞGİN, A (2021). Evaluation of the results of patients who applied to the Çukurova University, MedicalGenetics Department for prenatal diagnosis and determination of genetic counselingprinciples. Turkish Journal of Medical Sciences 51 (2): 657-660. https://doi.org/10.3906/sag-2004-298
