Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

Journal of Clinical Medicine

Evangelia Karampetsou¹  Deborah Morrogh¹ 

[1] NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, 37 Queen Square, London WC1N 3BH, UK; E-Mails:

关键词: prenatal microarray;    implementation;    BAC;    SNP;   

DOI  :  10.3390/jcm3020663

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.