• 作者：Marí ; a de los Á ; ngeles Mori^a ; ^b ; Elena Mansilla^b ; ^c ; Fe Garcí ; a-Santiago^b ; ^c ; Elena Vallespí ; n^a ; ^b ; Marí ; a Palomares^a ; ^b ; Rubé ; n Martí ; n^a ; ^b ; Roberto Rodrí ; guez^d ; Cristina Martí ; nez-Payo^e ; Belé ; n Gil-Fournier^f ; Soraya Ramiro^f ; Pablo Lapunzina^b ; ^g ; Juliá ; n Nevado^a ; ^b ; ^{jnevado.hulp@salud.madrid.org}
• 关键词：Diagnó ; stico prenatal ; Array de (hibridació ; n genó ; mica comparada) ; Alteraciones ecográ ; ficas ; Casos con riesgo elevado ; Variació ; n en numero de copia ; Variante de significado clí ; nico incierto
• 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：34-48
• 文件大小：2051 K

Objectives

Review the principles of microarrays (in particular array-CGH), their benefits for prenatal diagnosis and the associated challenges, through the currently published works and those derived from our practical experience over the past two years.

Methods

A literature review was carried out, as well as comparisons with prospective and retrospective studies with array-CGH in cases of pregnancies at high risk (preferably with ultrasound anomalies).

Results

The detection rate of genomic alterations by array-CGH in our cases with ultrasound anomalies was between 13.3-15%.

Conclusion

The combination of the increased capacity of microarrays in screening of the human genome to detect changes in copy numbers variations, within a single experimental assay, as well as their greater technical resolution in cases of high-risk pregnancies, could lead to array-CGH to be a very interesting diagnostic approach in the next decade to replace the karyotype as a gold standard in such prenatal studies.