评估向库尤罗瓦大学医学遗传学系申请产前诊断和确定遗传咨询原则的患者的结果。
Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles.
机构信息
Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey
Adana Genetic Disease Diagnosis and Treatment Center (AGENTEM), Çukurova University Adana, Turkey
出版信息
Turk J Med Sci. 2021 Apr 30;51(2):657-660. doi: 10.3906/sag-2004-298.
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.
背景/目的：本研究旨在总结单一医疗中心在产前患者遗传诊断和治疗方面的经验。
材料和方法
本研究包括对 6 年内（2013-2019 年）在单一三级保健中心采用侵入性方法进行产前检查的 2843 例病例的回顾性数据分析。
结果
在 1221 份羊水样本中发现 80 份、1608 份绒毛膜样本中发现 178 份和 14 份脐带穿刺样本中发现 1 份染色体异常。最常见的染色体异常是 21 三体。在对 152 个胎儿进行的分子检测中，有 63 个至少检测到一个突变。
结论
超声和基因检测等临床程序能够为孕妇提供更好的临床随访，了解可能的先天畸形或任何遗传状况，并进行适当的遗传咨询和检测方法。
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