Karampetsou Evangelia, Morrogh Deborah, Chitty Lyn
NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, 37 Queen Square, London WC1N 3BH, UK.
UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
J Clin Med. 2014 Jun 20;3(2):663-78. doi: 10.3390/jcm3020663.
The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. In this review we compare the performance of different array platforms (BAC, oligonucleotide CGH, SNP) and designs (targeted, whole genome, whole genome, and targeted, custom) and discuss their advantages and disadvantages in relation to prenatal testing. We also discuss the factors to consider when implementing a microarray testing service for the diagnosis of fetal chromosomal aberrations.
与传统核型分析相比，微阵列（芯片）在诊断胎儿致病性染色体异常方面具有优势，这促使其在产前诊断中得到应用。在本综述中，我们比较了不同阵列平台（BAC、寡核苷酸比较基因组杂交、单核苷酸多态性）和设计（靶向、全基因组、全基因组与靶向、定制）的性能，并讨论了它们在产前检测方面的优缺点。我们还讨论了在实施用于诊断胎儿染色体畸变的微阵列检测服务时需要考虑的因素。
