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首页> 外文期刊>Medical Sciences >Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed?
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Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed?

机译：具有中枢神经系统异常和相关异常的胎儿的常规染色体分析：有什么变化吗？

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Central nervous system (CNS) abnormalities are often isolated but can accompany various genetic syndromes. In this study, we evaluated conventional karyotype results and associated findings of fetuses that were diagnosed with CNS abnormalities. Cases included in the study were diagnosed with fetal CNS anomalies and underwent conventional karyotyping. Conventional karyotype results of subjects were compared with karyotype results of fetal karyotyped patients as a result of maternal anxiety in a two-year period. In this period, 69 patients were diagnosed with fetal CNS anomalies and 64 of them underwent invasive fetal karyotyping. Of these, 32 patients had isolated CNS anomalies, while 32 were associated with other anomalies. There was no significant difference between karyotype results when compared with the control group ( p = 0.76). Apart from some specific anomalies, the aneuploidy rate does not significantly differ between fetuses with CNS anomalies and the control group. Advanced genetic evaluation may provide additional diagnostic benefits, especially for this group.
机译：中枢神经系统（CNS）异常通常是孤立的，但可以伴随多种遗传综合征。在这项研究中，我们评估了常规的染色体核型结果以及被诊断为中枢神经系统异常的胎儿的相关发现。研究中包括的病例被诊断出胎儿中枢神经系统异常，并进行了常规的核型分析。在两年的时间里，将孕产妇的焦虑导致受试者的常规核型结果与胎儿核型患者的核型结果进行比较。在此期间，有69名患者被诊断出胎儿中枢神经系统异常，其中64名接受了侵入性胎儿核型分析。其中32例患有孤立的CNS异常，而32例与其他异常相关。与对照组相比，核型结果之间无显着差异（p = 0.76）。除了某些特定的异常，具有中枢神经系统异常的胎儿与对照组之间的非整倍体率没有显着差异。先进的基因评估可能会提供额外的诊断益处，尤其是对于该人群。

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