• 作者：Marí ; a Eugenia Querejeta^a ; Beatriz Nieva^a ; Juncal Navajas^a ; Juan Cruz Cigudosa^b ; ^c ; Javier Suela^c ; ^{jsuela@nimgenetics.com}
• 关键词：Array-CGH ; Hibridació ; n genó ; mica comparada ; Variació ; n de n&uacute ; mero de copia ; Diagnó ; stico prenatal
• 刊名：Diagn贸stico Prenatal
• 出版年：2012
• 期刊代码：pca115_21734127
• 类别：med
• 出版时间：April-June, 2012
• 卷：23
• 期：2
• 页码：49-55
• 文件大小：514 K

The array-CGH technique has recently been established as a first-tier diagnostic test for studying patients with congenital anomalies, idiopathic mental retardation and other neurological disorders. However, its use in prenatal diagnosis is still being evaluated, especially in low-risk pregnancies. A study was conducted on a population of 530 low-risk pregnancy women using both conventional karyotype and array-CGH for prenatal diagnosis. Whereas conventional karyotype detected 3 foetuses (0.5%) with unbalanced cytogenetic aberrations (one of them was undefined), array-CGH detected 8 foetuses with copy number aberrations (1.5%), and positively identified the undefined cytogenetic aberration detected using karyotype. In conclusion, this study proposes array-CGH as a useful tool in prenatal diagnosis for low-risk pregnancies.