Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Expert Rev Mol Diagn. 2011 Jul;11(6):579-92. doi: 10.1586/erm.11.43.
Until recently, the prenatal detection of genetic disease was available to only a subset of the pregnant population deemed to be at an increased risk for chromosomal abnormalities or, more rarely, other genetic disorders, based on family history, multiple-marker screening or ultrasound findings. Guided by recent data that indicate that screening for Down syndrome has improved and that risks of invasive procedures are smaller than previously ascertained, the American College of Obstetricians and Gynecologists has recommended that all women have access to invasive prenatal diagnosis. The parallel development of newer genetic diagnostic technologies, such as chromosomal microarray analysis, has made it feasible to simultaneously test for more conditions than was possible with standard karyotype analysis complemented by targeted fluorescence in situ hybridization or mutation detection for specific conditions. In the pediatric and adult population, chromosomal microarray analysis has already been thoroughly evaluated and is now recommended as a first-line diagnostic test for clinically suspected genetic disorders. In this article, we review the current status of array-based comparative genomic hybridization use for prenatal diagnosis and predict that, in the future, it will replace karyotyping as a first-line test for detecting chromosomal abnormalities in the prenatal setting.
直到最近，只有一部分被认为有更高的染色体异常或更罕见的其他遗传疾病风险的孕妇人群，才能进行产前遗传疾病检测。这些风险因素包括家族史、多重标志物筛查或超声检查结果。根据最近的数据表明，唐氏综合征筛查已经得到改善，并且侵入性手术的风险比以前确定的要小，美国妇产科医师学会已经建议所有女性都可以进行侵入性产前诊断。较新的遗传诊断技术的平行发展，如染色体微阵列分析，使得同时检测更多疾病成为可能，这比标准核型分析辅以针对特定疾病的靶向荧光原位杂交或突变检测所能做到的要多。在儿科和成人人群中，染色体微阵列分析已经得到了彻底的评估，现在被推荐作为临床疑似遗传疾病的一线诊断测试。在本文中，我们回顾了基于阵列的比较基因组杂交在产前诊断中的应用现状，并预测在未来，它将取代核型分析，成为产前检测染色体异常的一线测试方法。
